Appendix 1. MRC Centre Principal Investigators Director Professor Michael Hanna

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1 Appendix 1. MRC Centre Principal Investigators 2016 Director Professor Michael Hanna Co-directors London Professor Mary M. Reilly Professor Francesco Muntoni Co-directors Newcastle Professor Kate Bushby Professor Doug Turnbull London Dr Chris Clark Professor Giulio Cossu Professor Michael Duchen Professor Elizabeth Fisher Professor Xavier Golay Professor Linda Greensmith Professor John Hardy Professor Henry Houlden Professor Kristjan Jessen Professor Dimitri Kullmann Professor Martin Koltzenburg Dr Michael Lunn Professor Paul Matthews Professor Jennifer Morgan Dr Gita Ramdharry Professor Gipi Schiavo Dr Stephanie Schorge Dr John Thornton Professor Thomas Voit Professor Paul Whiting (as of Oct 2016) Professor Tarek Yousry Newcastle Professor Andrew Blamire Dr Grainne Gorman Professor Rita Horvath Dr Kieren Hollingsworth Professor Hanns Lochmüller Dr Robert McFarland Dr James Miller Professor Avan Aihie Sayer (as of Aug 2016) Professor Volker Straub Professor Robert Taylor Professor Michael Trenell Cambridge Professor Patrick Chinnery

2 Senior Team Professor Michael Hanna I am interested in how molecular genetic and pathophysiological knowledge can translate into precision diagnostics and treatments in neuromuscular diseases. I established and funded collaborative interdisciplinary clinical, genetic and cellular research programmes in channelopathies, mitochondrial disease and degenerative myopathies that have progressed molecular understanding, resulted in new diagnostic tests and improved patient outcomes in experimental trials. My channel research has translated into the UK national NHS highly specialist clinical service and diagnostic reference laboratory and was selected as a REF 2014 UCL impact case. I am interested in tackling the translational gap between discovery and patient benefitthe MRC Centre links UCL and Newcastle universities and provides a national experimental medicine platform. Our translational impact includes stratified patient cohorts >10,000 patients, 99 natural history studies and experimental trials completed, 8000 human cell lines in MRC biobank, 24 clinical and non-clinical PhD students graduated, new MRI biomarkers for NMD adopted internationally, >1000 publications across all PIs, European Medicines Agency orphan drug status & recent, 2015, FDA licensing based on MRC Centre trials. Added value of being an MRC Centre PI My research has benefitted enormously from the MRC Centre. The support from the trial coordinators has been crucial for the development of patient cohorts, the natural history studies and the clinical trials. Access to the state of the art biobank facilities has facilitated pathogenetic and pre-clinical studies in channelopathies and IBM. The MRI biomarker development in UCL has allowed us to develop a biomarker which is responsive over 1 year in IBM which will be revolutionary in future clinical trials. The training programme of the centre has allowed us to recruit excellent clinical and non-clinical PhD students who have contributed to may of my studies in channelopathy, mitochondrial diseases and IBM. Professor Mary M. Reilly 2 P a g e

3 I have a long standing research interest in the inherited neuropathies with an emphasis on translational research. A major part of our current programme is gene identification (e.g. NEFH, BICD2, MARS, FBOX38) and functional analysis of identified genes (e.g. BICD2, FBOX38 and IGHMPB2). My more clinically focused translational research incudes detailed natural history studies in many inherited neuropathies (CMT, HNPP, HMN, HSN, TTR-FAP) with the aim of being trial ready as well as understanding the disease pathogenesis and evolution better, developing new outcomes measures (e.g. CMT neuropathy score for CMT) and new disease biomarkers for disease progression (e.g. MRI neuromuscular protocol for CMT1A). I was the UK PI for the first international UK-Italian trial in CMT1A and currently am conducting a pre-clinical trial outcome measure identification study in HSN1 in preparation for a clinical trial of serine in HSN1 based on work of our group and others in the pathogenesis of this condition and an aerobic exercise trial in CMT1A. Added value of being an MRC Centre PI My group has had major benefit from the MRC Centre. The support from the experimental medicine trial coordinators has allowed us to setup and develop the MRC Centre inherited neuropathy stratified cohort which currently has 3668 patients entered. The use of this cohort and also fibroblasts from the MRC Centre biobank has been instrumental in helping both new gene discovery and functional studies in these new genes. The experimental medicine trial coordinators have also helped the setting up of and the coordination of the ongoing aerobic exercise study in CMT. The MRI biomarker development in UCL has allowed us to develop a biomarker which is responsive over 1 year in CMT1A which will be revolutionary in future clinical trials. The training programme of the centre has allowed us to recruit excellent clinical and non-clinical PhD students who are the first authors in many of our studies and publication. Professor Francesco Muntoni I am a paediatric neurologist clinician scientists interested in clinical and molecular aspects of paediatric neuromuscular disorders, and responsible for a national clinical and diagnostic service for rare congenital muscle diseases. I have been co-director of the MRC Centre since its inception. Regarding my research interests, I am actively involved in the deep phenotyping of children with neuromuscular diseases which led to the identification of more than 30 neuromuscular disease genes, 8 of which by my group. I have pursued functional characterisation of some of these genes by relevant knock-in or knock down animal models. I have a strong translational research interest in Duchenne muscular dystrophy (DMD) and spinal muscular atrophy. I am the Principal Clinical Investigator of an UK Consortium established a decade ago to pursue genetic therapies for Duchenne muscular dystrophy (DMD), and spinal muscular atrophy (SMA) using splice switching antisense oligonucleotides. I performed 3 investigator led clinical trials to induce exon skipping in DMD using antisense oligonucleotides (targeting exon 51, and exon 53 using a morpholino chemistry, see Added value of being an MRC Centre PI The MRC Centre allows me to: i. have study coordinators support for the clinical trials and natural history studies currently underway in the Dubowitz Neuromuscular Centre (more than 20 at the moment); ii. access state of the art biobank facilities to assess the identification of novel targets for 3 P a g e

4 antisense oligonucleotides and other approaches relevant for a variety of neuromuscular diseases; iii. develop novel non-invasive muscle imaging; iv. access animal facilities for testing efficacy of novel therapeutic approaches; v. Train the next generation of clinician scientists with expertise in experimental trials in children Professor Kate Bushby Kate Bushby is a clinical academic with joint appointments between the John Walton Muscular Dystrophy Research Centre at Newcastle University and the NHS. She is a member of the Neuromuscular Research Group within the Institute of Genetic Medicine at Newcastle University and plays a leading role in the National Commissioning Group (NCG) for rare neuromuscular diseases. Along with Volker Straub, Professor Bushby was one of the founding coordinators the TREAT-NMD network for accelerating therapy development in neuromuscular diseases. She now plays a leading role in the European and national rare disease policy areas, and is acting as an invited expert on the new Commission expert group on rare diseases. In addition to this, she has overall responsibility for activities relating to the impact of FP7 project RD-Connect on the broader rare disease field. Professor Bushby has a longstanding interest in the molecular genetics of the limb-girdle muscular dystrophies and related disorders and is interested in the best possible development and implementation of care guidelines as well as clinical trials. Her team has developed an extensive programme of research in NMD from basic molecular pathology to clinical studies. Added value of being an MRC Centre PI My research has benefitted in multiple ways from the MRC Centre. The support from the trial coordinators, the access to a biobank and the PhD students have all contributed to my research in muscular dystrophies. The interaction between PIs in Newcastle and UCL through the MRC centre has had major benefits to the Newcastle Neuromuscular disease research programme. Professor Sir Doug Turnbull Professor Sir Doug Turnbull is Director and PI of the MRC/BBSRC Centre for Ageing and Vitality focused on mechanisms of ageing and how these are modified by lifestyle interventions. The MRC/BBSRC Centre was renewed in 2013 and predominantly explores the role of mitochondria in 4 P a g e

5 ageing and age related disease. Professor Turnbull is also Director of the Wellcome Trust Centre for Mitochondrial Research, which has had a major impact on mitochondrial disease over the last four years. Professor Turnbull also had a major role in changing the law to allow mitochondrial donation in the UK, working closely with policy makers and patients. Professor Turnbull led the commissioning of a new and unique NHS service for patients with mitochondrial disease the NHS Highly Specialised Service for Rare Mitochondrial Diseases of Adults and Children. Coordinating activity across three UK centres (Newcastle, London and Oxford), this NHS service provides optimal care for patients and provides an outlet for the clinical research undertaken at MRC Centre for Neuromuscular Diseases. Added value of being an MRC Centre PI Being a centre PI gives unique ability to develop long term cohorts and then translate the findings from this research into improved healthcare. Being on two sites allows unrivalled access to expertise in neuromuscular disease across two sites. London Professor Linda Greensmith Our group uses a range of techniques and animal and cellular models, to examine the underlying pathomechanisms of neuromuscular disorders that affect motor neurons and muscles, including ALS, dhmn and IBM. We have extensive experience of undertaking preclinical studies of novel agents in mouse models of neuromuscular disease and have a longstanding interest in the therapeutic potential of chaperones for protein mis-folding disorders. We have shown that a novel co-inducer of protein chaperones called arimoclomol, ameliorates disease in models of ALS and IBM. These results have resulted in clinical trials in both ALS and IBM patients. We are also developing a novel approach to restore function to paralysed muscles using stem cell-derived grafts of motor neurons that express channelrhodopsin-2, a molecular photo-sensor, to establish functional neuromuscular junctions with denervated muscles. Added value of being an MRC Centre PI The added value of being an MRC Centre PI include access to outstanding clinical and basic PhD students, access to the neuromuscular biobank, opportunities to deliver translational studies in patients in investigator led clinical trials. 5 P a g e

6 Dr Chris Clark My research focus is on the development and application of diffusion tensor imaging (DTI) and tractography for the understanding of neurological disability. Tractography uniquely allows the mapping of the white matter tracts of the living human brain. These methods can be used to reconstruct a wide range of clinically eloquent tracts such as the cortico-spinal tracts, fornix, optic radiations and uncinate fasciculus among others. A particular theme of research in which I have been active is the development of these methods for the purposes of neurosurgical planning in both children and adults. I am also using these methods to investigate the relationship between white matter damage and post-surgical deficits. I am leading a number of research projects both on the development of tractography methods, using for example Markov Chain Monte Carlo methods, as well as a wide range of clinical studies in children focused on epilepsy (temporal lobe epilepsy, febrile convulsions, infantile spasm) and brain tumour diagnosis and collaborate with colleagues on studies in developmental amnesia. I am also actively participating in adult studies of stroke recovery and early white matter damage in familial Alzheimer s disease. Added value of being an MRC Centre PI Membership of the MRC consortium has allowed the development of a programme of research in imaging muscle in children at Great Ormond Street Hospital in particular diffusion MRI techniques. Access to collaborators across the consortium has strengthened this work including important interactions with the adult imaging team at Queen Square. Professor Giulio Cossu Giulio Cossu (GC) is recognized for his pioneering work on skeletal myogenesis and for the first cell therapy trial with stem cells for muscular dystrophy. He originally showed that neural tube (Vivarelli and Cossu, Dev. Biol. 1986) and, subsequently, dorsal ectoderm (Cossu et al., Development 1996) activate, through different Wnts, distinct myogenic programs in epaxial and hypaxial somitic progenitors, a notion now in developmental biology textbooks. He also pioneered studies on myogenic cell heterogeneity (Cossu and Molinaro, Curr. Topics Dev. Biol. 1987) by showing intrinsic differences among embryonic, foetal and adult myogenic progenitors (Biressi et al. Dev. Biol. 2007) whose molecular basis he recently elucidated (Messina et al. Cell 2010): these studies outlined an unforeseen parallelism with the hematopoietic system, supporting the idea that at least some 6 P a g e

7 tissues of developing mammals are built in subsequent stages by different families of progenitors. In collaboration with M. Buckingham laboratory, Giulio elucidated the hierarchy of the different myogenic regulatory factors (Tajbakhsh et al. Cell 2007) and also identified unexpected expression of one of these factors, Myf5 in non-somitic progenitors such as the neuroectoderm (Tajbakhsh et al. Neuron 1994) and the lateral mesoderm (Salvatori et al. J. Cell Sci. 2005). These observations led to the identification of a bone-marrow derived, circulating myogenic progenitor cell in adult mice (Ferrari et al. Science 1998) whose embryonic precursors were later identified in the dorsal aorta (De Angelis et al. J Cell Biol. 1999). These cells, named mesoangioblasts, are able to proliferate in vitro and contribute to mesoderm tissues upon transplantation (Minasi et al. 2002). Mesoangioblasts were used for the first successful cell therapy protocols of muscular dystrophy in mice and dogs (Sampaolesi et al. Science 2003; Nature, 2006). After characterization of human mesoangioblasts as a subset of muscle pericytes (Dellavalle et al. Nature Cell Biol. 2007) whose lineage was traced in mice (Dellavalle et al. Nature Comm. 2011), these cells were used by GC for a first in man phase I/II clinical trial based upon allo-transplantation of donor mesoangioblasts from an HLAidentical donor in patients affected by Duchenne muscular dystrophy (Cossu et al. EMBO Mol. Med. 2015). Ongoing research focuses on the optimisation of the transplantation protocol and on the development of different gene correction strategies including cell mediated exon skipping (De Angelis et al. PNAS 2002) and development of Human Artificial Chromosomes encoding the dystrophin locus (Tedesco et al. Sci. Transl. Med. 2011). Recently he was awarded a Wellcome Trust HICF grant to conduct a first in man cell therapy phase I/IIa trial of cell-mediated gene therapy for DMD. Giulio is author of more than 200 peer-reviewed publications (H index: 60); he has been invited as speaker in most meetings on myogenesis and stem cells and has organized EMBO workshops and Gordon Conferences on this topic. He receives funding from many national and international agencies, such as BHF, WT, MRC, Telethon, Duchenne Parent Project, Human Frontiers Science Organization, European Community, European Research Council and others. Added value of being an MRC Centre PI Giulio greatly benefits from being a PI of the Centre, since he can interact and collaborate with leading experts in neuro-muscular diseases. For example, the recently funded trial has been designed with Francesco Muntoni and Jennifer Morgan who indeed are co-is of the trial. Professor Michael Duchen We are interested in a wide range of issues related to mitochondrial biology and cell signalling. Much of our current work is focused on interrelationships between calcium signalling, mitochondria and free radicals in cell physiology and pathophysiology. This work embraces questions about the contributions of mitochondrial function to intracellular calcium signalling. We are fascinated by the intimate dialogue between mitochondrial biology and cell signalling systems. How do cell signalling pathways impact on and regulate mitochondrial physiology? How do subtle changes in mitochondrial function affect the physiology of the cell? How are mitochondria in different cell types specialized to match the specialized differentiated function of the cells they inhabit? We are especially concerned to characterise the contributions of 7 P a g e

8 mitochondrial dysfunction to cell injury and cell death - by necrosis or apoptosis that takes place in situations such as ischaemia, reperfusion injury and in the neurotoxicity mediated by glutamate or beta-amyloid. Another core theme again involving a complex dialogue is the mitochondrion as both a site and a target of oxidative stress and damage in disease models. Most of our work involves live cell fluorescence microscopy and imaging, including confocal, multiphoton and fast read-out cooled CCD instruments. All approaches have been adapted to allow the simultaneous or near simultaneous measurement of multiple variables - cytosolic calcium and mitochondrial potential, cytosolic calcium and mitochondrial calcium, NADH autofluorescence and cytosolic calcium or cytosolic magnesium and so on. We have a broad general interest in functional cellular imaging and in the development of new approaches to imaging aspects of cell function using targeted probes, GFP tagged proteins, FRET, FLIM and so on. Interests of the lab extend through a wide range of biological problems in which mitochondria are involved - in ischaemia reperfusion injury in the heart, in the role of mitochondrial function in fertility in the mammalian egg (with John Carroll), in mitochondrial function and septic shock syndrome in liver, kidney and muscle, in mitochondrial biogenesis following exercise and training in muscle, and in mitochondrial dysfunction in beta cells in diabetes. This rather unusual breadth has had a positive influence on all our work, as resolving problems in one system invariably seems to illuminate problems with others. We have been astonished at the frequency with which a small number of basic principles are recapitulated in a wide and disparate array of models. Added value of being an MRC Centre PI Our inclusion in the MRC Centre has brought us an increased interaction with other Centre PIs and an increased involvement in research problems related to neuromuscular disease. Access to the Biobank has allowed us to generate models of a number of neuromuscular diseases which have now become a major focus of much of the work in the lab. Professor Elizabeth Fisher My background is in mouse and human molecular genetics, with an emphasis on developing novel mouse models of neurodegenerative disease. I have two main areas of interest within my laboratory: motor neuron diseases and Down syndrome Alzheimer s disease. In both areas, my laboratory has produced and characterised in collaboration with colleagues at UCL, the Francis Crick Institute, MRC Harwell, and elsewhere new mouse models, such TDP43 and FUS mutants, that have given new insights into disease mechanisms. We are currently interested in the humanisation of the mouse genome, a technically challenging process, to determine if knocking in human sequences can yield more accurate models of neurodegenerative disease. At the same time it is essential to recognise that mice model aspects of disease and we need to take a sophisticated approach to both what we learn from the mouse, and how new insights from clinical, ipsc and other studies can feed back to optimise our mouse models. Added value of being an MRC Centre PI Being a PI at the MRC Centre for Neuromuscular Disease gives me unparalleled access to colleagues with clinical, basic and translational expertise to phenotype the mice we produce, in depth, and to compare to the human condition. This is facilitated by the Centre. 8 P a g e

9 Professor Xavier Golay Professor Golay s research interests lie at the intersection of many disciplines, such as NMR physics, chemistry, physiology and neuroscience. They include the development of MRI as a translational tool for neurological diseases, measuring identical image-based biomarkers from mouse to human, and from the laboratory to the clinical settings. As translation has many meanings, parts of his most important research interests include the development of MRI techniques to be used as image-based outcome measures or biomarkers in the same way in animal model of diseases or in human patients. His hope is to reduce the cycle of drug development in neurological diseases by allowing academic or pharmaceutical institutions to use similar tests across species. Added value of being an MRC Centre PI Being an MRC Centre PI helped me move into new applications in which MRI could play a central role as an early biomarker of disease change, in particular considering the upcoming possible disease-modifying interventions coming in the field of neuromuscular diseases. Professor John Hardy My research interests are in the genetic analysis of disease. Historically, we have worked on the genetic analysis of Alzheimer's disease and other dementias. More recently, we have worked on Parkinson's disease and other movement disorders and, most recently on motor neuron disease. Our early studies were on mendelian forms of disease and these studies continue, but an increasing focus has been on the genetic analysis of complex traits related to disease. Additionally, this latter analysis has made us increasingly interested in population genetics because the risk variants for human traits are likely to be different in different racial groups. In all cases our intention is to develop an understanding of the underlying genetics of a disorder so we can work with those making cellular and animal models of the disease to help, both in the understanding of disease mechanisms and to help in the search for treatments. In this regard, we therefore have three types of collaborations: collaborations with clinicians who treat patients with disease, especially colleagues at the Institute of Neurology, but also elsewhere, collaborations with other geneticists to 9 P a g e

10 collaboratively analyse such patient material, and collaborations with cell biologists and transgenic mice people to enable them to build good models of disease. Added value of being an MRC Centre PI The MRC Centre has allowed my group to have increased interactions with clinical, basic and translational expertise through the centre PIs and an increased involvement in research problems related to both neuromuscular diseases and neurodegenerative disease including mitochondrial dysfunction. Professor Henry Houlden The Neurogenetics laboratory at UCL Institute of Neurology is in a pivotal position, and uniquely situated to direct translational opportunities and advance our understanding of neurological disease. The Neurogenetics team have had the foresight to establish and develop a number of cutting-edge technologies, such as the UCL diagnostic and research next generation sequencing facility, the neurological disease gene analysis pipeline and recently I became national lead for the Neurology and Neurodegeneration Genomics England Clinical Interpretation Partnership (GECiP), setup to examine all neurology genomes and contains over 150 scientists and clinicians. My laboratory has been at the forefront of neuromuscular disorders, resulting in the identification of several genes for neuromuscular, spastic paraplegia and motor neuronopathies. Importantly, the identification of disease genes has not only led to diagnostic benefit for many patients and families, but also the discovery of new disease-causing pathways that have led to novel and effective treatments, such as in the identification of two riboflavin transporter genes that cause childhood onset motor neuron disease. My laboratory has a demonstrable history of training early career clinicians and scientists, which is essential in sculpting the future of this field. Added value of being an MRC Centre PI The MRC Centre has brought considerable added value to my genomics research with; wellcharacterised neuromuscular cohorts for research for gene discovery, high recruitment of patients to the 100,000 genomes sequencing project, collaboration on clinical and functional aspect of a number of disease genes to advance disease pathway understanding. 10 P a g e

11 Professor Kristjan Jessen We are interested in Schwann cells, the glial cells of peripheral nerves. These cells provide signals, which during development are required for neuronal survival, and which are essential for the integrity of peripheral nerves in the adult. They also make myelin-sheaths around axons that are needed for the normal conduction of nerve impulses. In damaged nerves, Schwann cells guide regrowing axons and make nerve repair possible. Schwann cells show a striking ability to de-differentiate. This happens for instance when nerves are injured and it is phenotypic plasticity that generates an environment that supports axon growth and nerve regeneration. But Schwann cell de-differentiation and de-myelination is also a major problem in the common inherited and acquired peripheral neuropathies. The work of the laboratory addresses a group of interlocking issues in Schwann cell biology. (i) Early Schwann cell development and the biology of the Schwann Cell Precursor (ii) Control of myelination (iii) The response of Schwann cells to injury and genetic disease, including the process of demyelination and control of axon re-growth and nerve repair. To learn about these events, we study molecular signalling in neural crest cells and between neurones and glia, examine how transcription factors control differentiation programmes and analyse intracellular signalling cascades that regulate survival, proliferation, myelination and demyelination. We use cells from rats, and normal and transgenic and knockout mice, and a variety of molecular, biochemical, cell biological and cell culture techniques. Added value of being an MRC Centre PI Increasingly our work focusses on the third of the issues outlined above, namely the role of Schwann cells in injury and disease. In this context we have benefitted substantially from our links and collaboration with members of the MRC Centre for Neuromuscular Diseases. Professor Dimitri Kullmann My research focuses on synaptic transmission and plasticity, and neurological channelopathies affecting the CNS, peripheral nerve or muscle, and gene therapy for neurological diseases. Some of the insights from fundamental synaptic function and channelopathies have been harnessed to develop gene therapy tools that are potentially amenable to clinical translation. 11 P a g e

12 Added value of being and MRC Centre PI Mutations of ion channels and other synaptic proteins identified through the MRC centre provide unique insights into the causation of a range of diseases characterised by abnormal neuronal, synaptic or muscle function. We have also been able to identify patients with autoimmune disorders affecting neuromuscular function. This has allowed my laboratory to branch out into new directions including molecular dynamics of normal and mutated muscle ion channels, and studying the effects of autoantibodies on synaptic signalling. Dr Michael Lunn Dr Michael Lunn was appointed as consultant neurologist in He has an interest in inflammatory neuropathies and his research has concerned Guillain-Barre syndrome, CIDP and paraproteinaemic neuropathies. He is also clinical lead in neuroimmunology and Coordinating Editor of the Cochrane Neuromuscular Disease Group, now based in the MRC Centre. Added value of being an MRC Centre PI The MRC Centre provides opportunities for utilising all aspects of the translational research in many areas of neuropathy which can be applied to clinical and inflammatory neuropathies. This crossinterest seeding encourages the development of relevant but novel scientific thought in pathogenic mechanisms, relevant common pathways and outcomes measurement. Patients are included in clinical trials of established unproven or novel therapies from multiple physicians as they can be appropriately triaged by the clinician with the greatest expertise. Outputs from such cross fertilisation have been relevant clinical projects on the usefulness of VEGF in POEMS syndrome diagnosis, a clinical study in a cohort of anti-mag patients, over 17 publications from the PeriNomS study, four clinical trials and current discussions with three potential new PhD students. Professor Paul Matthews Paul Matthews, OBE, MD, DPhil, FRCP, FMedSci is Head of the new Division of Brain Sciences in the Department of Medicine of Imperial College, London. His research is noted for innovative translational applications of clinical imaging for the neurosciences. This has developed with exploitation of the powerful synergies between the physical and quantitative sciences and medicine. His was the founding Director of two internationally leading research imaging centres, the University of Oxford Centre for Functional Magnetic Resonance Imaging of the Brain (FMRIB) and, 12 P a g e

13 later, of GlaxoSmithKline s Clinical Imaging Centre (now a public spin out as Imanova, Ltd). From he was a Vice President, GlaxoSmithKline Medicines Discovery and Development. He is one of the small number of senior clinical academics in the UK with industry experience. Professor Matthews research has addressed related themes. He has extended applications of advanced imaging methods to answer a new range of clinical research questions. He collaborated closely with Oxford colleagues (especially Professor S. Smith) in applications developments for advanced structural and functional brain imaging incorporated into the open access FSL software distributed by the FMRIB Centre, now one of the two most widely used image analysis software toolboxes worldwide. While at Imperial and GSK, his group (then including Professor T. Nichols, now at the University of Warwick) piloted approaches extending these methods for the first properly controlled, prospectively designed imaging genetics studies. Over the last 5 years, he has been Chair of the Imaging Working Group for UK Biobank, which is pioneering an ambitious programme for very large population imaging as part of the UK Biobank (Prof Sir Rory Collins, CEO). MRI scanning of the brain, heart and body, along with DEXA and 3D carotid ultrasound, was initiated in a dedicated imaging centre at UK Biobank's Cheadle (Manchester) site in May, Professor Matthews work to develop the underpinning methods has focused on applications in drug development and disease outcomes monitoring. His former, GSK-based, research group harnessed the tools particularly for experimental clinical neuroscience drug development. An area of particular interest in that context involved development of novel methods for monitoring the progression of muscle pathology in Duchenne Muscular Dystrophy. Amongst many external commitments, Professor Matthews has served two terms on the MRC Neuroscience and Mental Health Board and remains active on several committees; is a member of the HEFCE REF Neuroscience Subcommittee for assessment of Neurosciences, Psychology and related areas; and is a member of the Steering Committee for the UK Dementias Platform. Professor Matthews was awarded an OBE in 2008 for services to neuroscience. He was elected to the Academy of Medical Sciences in 2014 and to the Academea Europea in Added value of being an MRC Centre PI Association with the Centre has allowed him to continue collaborations for imaging of muscle pathology, an area of immediate new therapeutic potential. Professor Jennifer Morgan Research Summary The overall objectives of my research programme are to: Define the most useful stem cell populations for reconstitution of skeletal muscle. Determine factors that control muscle stem cell properties. Investigate the muscle regenerative capabilities of stem cells other than satellite cells. The ultimate aim of my research programme is to move stem cell therapies for muscular dystrophies into the clinical arena. Added value of being an MRC Centre PI 13 P a g e

14 The added value of being an MRC PI is the translational intellectual environment which focusses on translating research findings rapidly into patient benefit. The biobank is an invaluable resource of cells and material for my research programme. Dr Gita Ramdharry Dr Ramdharry is an Associate Professor of Rehabilitation Sciences and a Neuromuscular Specialist physiotherapist. She splits her time between the Faculty of Health, Social Care and Education at Kingston University/St George's University of London, and the MRC Centre for Neuromuscular Diseases. At the centre she leads the Neuromuscular Rehabilitation Research Team and has been the recipient of an NIHR Clinical Lectureship and NIHR Research for Patient Benefit project grant, in addition to other chartable and HEI awards. Her team conducts studies of exercise, falls interventions, functional outcome measurement and orthotics with the overall aim of helping people with neuromuscular diseases to live well with their condition. Dr Ramdharry also works clinically as a physiotherapist at the centre. Added value of being an MRC Centre PI The MRC Centre for Neuromuscular Diseases is unique in that the research conducted by the PIs spans the bench to beyond the bedside and into the community where people participate in society. I am proud that the work of my team extends to people's daily lives, and the opportunities to engage and collaborate with my colleagues at the centre ensure a deep understanding of the pathophysiology and impact of these diseases. Our approaches to improve physical functioning are underpinned by this science. Professor Gipi Schiavo My research programme has provided major contributions to infection biology and cellular neurobiology by elucidating the mechanism of action of several bacterial toxins, which has been crucial for their exploitation as specific tools in cell biology and the optimisation of recombinant vaccines; and more recently by revealing key steps in the regulation of the axonal retrograde transport of ligand receptor complexes, such as neurotrophins and their receptors in neurons. 14 P a g e

15 In particular, we elucidated the role of Rab7, a small GTPase regulating the maturation of endosomal organelles, in the axonal retrograde transport of signalling endosomes, and BICD1 in the sorting and homeostatic control of neurotrophin receptors on the plasma membrane. My current research programme aims to elucidate the crucial role played by deficits in axonal transport in neurodegeneration and it is now targeted to the identification of novel molecules restoring physiological rates of axonal transport in disease conditions. Added value of being an MRC Centre PI Being a MRC Centre PI allows me an increased connectivity with likely minded investigators focussed on elucidating the mechanism of key neuromuscular diseases at molecular, cellular and organismic level and discovering new therapeutic interventions for the patient s benefit. Dr Stephanie Schorge We are interested in how ion channels alter neurological disorders (such as epilepsy and ataxias) and also how neurological disorders alter ion channels. In particular we are interested in how alternative splicing in ion channels changes their behaviour, and how changes caused by splicing may lead to changes in the course and treatment of diseases. Voltage-gated ion channels are often subject to extensive alternative splicing and the functional and neurological impact of changes in this splicing, as well as the factors regulating it are currently largely unknown. In the lab we regularly record from sodium, potassium, calcium and chloride channels. A close collaboration with the Experimental epilepsy group at IoN involved developing viral-mediated expression to permit heterologous expression of ion channels in difficult to transfect cells, and a close collaboration with the MRC-funded Neuromuscular Centre at IoN means we have a regular stream of novel mutations identified in patients to investigate as well as normally occurring splice variants. We have experimented with a variety of model systems, from oocytes to differentiated teratoma cells, and are constantly looking for ways to better reproduce the cellular environments that are relevant for the changes in ion channel behaviour. Stephanie Schorge is funded by a fellowship endowed by the Worshipful Company of Pewterers. Added value of being an MRC Centre PI We work on ion channels in the CNS and in muscles, but in many cases the phenotype and variability of muscle channels that we obtain from our colleagues in the MRC Neuromuscular centre, are much more detailed than information about CNS diseases, so our collaboration with the MRC centre not only gives us tremendous insight into how mutations change muscle channels, but gives us a step ahead for understanding variability in channels in general. 15 P a g e

16 Dr John Thornton John Thornton is Reader in Clinical MRI Physics at the UCL Institute of Neurology, and Consultant Clinical Scientist and Head of Clinical MRI Physics at the National Hospital for Neurology and Neurosurgery, Queen Square, London. My group s research aims to benefit patients in the short term by delivering innovative MRI methods into our hospital neuroradiology service to improve patient diagnosis, treatment and management, and in the longer term by establishing validated imaging outcome measures to enable trials of important new experimental therapies. Key themes are advancing MRI Safety, particularly for patients implanted with intracranial electrodes, advanced MRI methods for neurosurgical guidance, and MRI outcome measure methods for neuromuscular diseases and neurodegenerative conditions. Through the BRC Neuroimaging Initiative we are developing harmonized clinical MRI protocols optimised for diagnosis and research analysis, and through the UCL Centre for Medical Computing / NHNN Neuroradiology collaborative Quantitative Neuroradiology Initiative we will embed validated quantitative imaging disease markers into the Neuro-radiology reporting workflow. Added value of being an MRC Centre PI The infrastructure, funded through the MRC Centre, including the Centre-funded MRI physicist, has enabled us in London to establish and technically optimize and a number of key muscle MRI outcome measures. Collaborative studies with Centre clinical PIs have provided validation in a number of important patient studies, and cross-centre interactions between imaging specialists in Newcastle and London have leading to a number of fruitful collaborative activities. Professor Tarek Yousry Professor Tarek Yousry is the Head of the Lysholm Department of Neuroradiology (NHNN), Head of the Neuroradiological Academic Unit, Head of the Division of Neuroradiology and Neurophysics (UCL IoN), Director of the MSc in Advanced Neuroimaging and Director of Quality and Safety at the Clinical Research Centre, UCLH. Supported by 9 active grants and documented by more than 240 papers, his translational research focuses on furthering our understanding of disease mechanisms and on establishing outcome measures to be used in clinical trials. He has been the PI for imaging of the MRC Centre for Neuromuscular disease since its establishment ( ; ). Jointly with Dr John Thornton, Prof Yousry leads the UCL Neuromuscular MRI research group. A major focus of this group is the development of MRI of muscle fat infiltration (degeneration and denervation) as a biomarker both to stratify disease and also to monitor disease progression. The group has shown that the protocol they developed can detect disease progression over a year in 16 P a g e

17 IBM and even in CMT1A, the most slowly progressive neuromuscular disease (Lancet Neurology, 2016). This work underlines the high responsiveness of MR outcome measures over conventional functional measures, thereby highlighting its potential value in clinical trials. Prof Yousry, together with Dr Thornton and Prof S Ourselin, has established the Quantitative Neuroradiological Initiative, to translate quantitative MR into clinical practice. This will enable simple & accurate reporting of disease status and disease progression in neuromuscular diseases. Furthermore, the neuromuscular imaging groups of 3 institutions (UCL IoN, led by Prof Yousry and Dr Thornton; UCL ICH, led by Prof Muntoni; Newcastle University, led by Prof Straub) collaborate to harmonise clinical neuromuscular MR imaging across 3 NHS trusts (UCLH, GOSH, NCL) thereby improving patient management and care. Added value of being an MRC Centre PI The MRC Centre for neuromuscular disease was instrumental to the development of the UCL Neuromuscular MRI research group, enabling it to leading the field in the development of MR outcome measures in neuromuscular disease. Professor Martin Koltzenburg Despite significant advances in our understanding of the neurobiology of nociception, pain continues to be a leading health problem and a significant area of unmet clinical need for novel analgesic drugs. Recent epidemiological surveys have revealed an overall prevalence of chronic pain of up to 20% in the general population. Many of these pains are the symptoms of trivial, selflimiting conditions, but there remains a large number of individuals suffering unrelenting severe pain. Careful clinical studies have identified an abnormal sensitivity of primary sensory neurons as a major culprit in acute and chronic pain states. As a consequence much research in the unit aims to understand the mechanisms determining the normal and abnormal excitability of nociceptors. Translating the insights from laboratory investigations into human research projects we also investigate the psychophysical consequences of an abnormally increased nociceptor activity. Pain is also a clinical problem in childhood and prematurely born babies. Our work in animals has shown that the peripheral nociceptive nervous system starts to develop at a stage that corresponds to week 6 of human pregnancy and its maturation continues well into the postnatal period Added value of being an MRC Centre PI The MRC Centre has allowed my group to have increased interactions with clinical, basic and translational expertise through the centre PIs which has enhanced my research into painful neuropathies. The centre has also given me the opportunity to supervise an excellent PhD student who is now a post doc in Oxford developing IPS cells to study sensory neuropathies. 17 P a g e

18 Professor Thomas Voit My research is focussed on the development of new treatment approaches, notably gene therapy, for neuromuscular disorders (NMDs). It comprises the invention and conception of new molecular treatment approaches and their development as well as the development of new outcome measures (biomarkers, MRI/MRS, muscle force and function measures) and their validation in phase 1-2 clinical trials. Sixteen patents document inventions and publications bearing on the first three drugs under FDA filing for Duchenne MD (ataluren, drisapersen, catena) provide proof of pull-through capacity. My experimental focus will develop new antisense-mediated, Gapmer-mediated, and raav-mediated approaches for facioscapulohumeral MD and other MDs such as Becker MD. Functional in vitro and in vivo these approaches will be taken through preclinical and clinical development. I am also interested in muscle homeostasis and therapeutic approaches looking into small molecules, and their combinatorial application together with gene therapy. One focus is the combinatorial approach of antisense and gene therapy for dystrophic tissue. This approach has the capacity to augment the effect of gene therapy in mdx mice 10-fold. These and other new molecular treatment technologies will serve as platform technologies to tackle a large number of NMDs including spinal muscular atrophy, SOD1-linked ALS and Duchenne, Becker, and limb girdle muscular dystrophies. Added value of being an MRC Centre PI Developing new molecular treatment approaches is critically dependent on primary materials (cells including muscle biopsies, myoblasts and ips cells), on well-defined patient cohorts in order to design appropriate clinical trials and evaluate endpoints, and on scientific exchange and academic collaboration. The MRC Centre for Neuromuscular Diseases represents an optimal academic and clinical environment for my research and was indeed a major reason for me to join UCL in October Active collaborations have already started with several MRC PIs (Hanna, Muntoni, Morgan). Currently 272 publications in PubMed, H-Factor 65, > citations Newcastle Professor Andrew Blamire 18 P a g e

19 My personal research programmes revolve around developing and applying novel Magnetic Resonance Imaging (MRI) and Spectroscopy (MRS) methodology as diagnostic and prognostic values and as outcome measures in interventional trials. Neuromuscular imaging: My research group are involved in a wide range of studies developing and applying MR methods for neuromuscular applications. I coordinate the FP7 funded BIOIMAGE-NMD programme and my group is developing diffusion sensitive MRI methods based on the stimulated echo method (STE- DWI) as a probe of tissue microenvironment. The objective of this work is to quantify changes in muscle fibre size distribution which is a feature of tissue degeneration and regeneration in muscular dystrophy. We aim to develop STE-DWI as a tool to measure muscle decline and response to intervention in patients with Duchenne Muscular Dystrophy (DMD). A second method development project funded through MRC Confidence in Concept is looking at how MRI can be used to image neuromuscular motor unit activity as a non-invasive alternative to needle based EMG measurements. With funding from Horizon2020, within the VISION-DMD programme we are establishing the imaging protocol for a major international clinical trial of VBP15, an innovative steroid-like intervention for Duchenne Muscular Dystrophy and will be the central imaging analysis facility for this trial. My group also provides leadership to the imaging study component of the JAIN foundation Clinical Outcome Study in dysferlinopathy and we are one of two analysis centres for this study. Neuroimaging Dementia: Recent studies using quantitative relaxation imaging (T1 and T2), diffusion tensor imaging, cerebral blood flow imaging (arterial spin labelling) and metabolic measurements by proton MR spectroscopic imaging have revealed different patterns of neurodegeneration between patients with Alzheimer's disease and Dementia with Lewy Bodies. Current work, funded by the Newcastle NIHR BRU in Lewy Body Dementia, is applying MRS spectral editing techniques to examine the role of the excitatory neurotransmitter GABA in the symptoms of visual hallucinations which are common in patients with Dementia with Lewy Bodies. Responsive contrast agents for molecular MRI: with funding from EPSRC I am working with Prof David Parker at Durham University to develop a new range of molecular MR contrast agents which are directly imaged by MRI. These new agents are based on the paramagnetic shift between a lanthanide ion and a reporter group within the molecule and have been termed PARASHIFT agents. The agents are designed to be responsive to the tissue environment, providing quantitative readout of physiological parameters such as tissue temperature and ph. Other projects include: Development of 7Li MR imaging in Bipolar Disorder Studies of fatigue and autonomic dysfunction in Sjogren s Syndrome (Arthritis Research UK funded) including measurement of muscle bioenergetics using 31P-MRS Added value of being an MRC Centre PI Being a PI on the MRC Centre has allowed me to develop a new theme to my research programme. As a MR physicist with a main interest in novel imaging methodology, historically my focus has been on neuroimaging. Working with the clinical and biomedical colleagues in the Centre has highlighted neuromuscular conditions where imaging could provide more robust diagnostic information and aid our understanding of disease. This has led to new translational projects using preclinical and clinical scanning, opened the way for new collaborations and allowed me to raise the profile of UK imaging research through leadership of major international programmes. Dr Grainne Gorman 19 P a g e

20 The aim of my research is to devise and facilitate the prescription of safe and effective exercise protocols into clinical practice which will support people with mitochondrial myopathies to sustain a more physically active lifestyle, whilst targeting the underlying disease mechanisms in a condition, which, currently there are no known cures and few effective treatments. Other major research themes include: Clinical and molecular aspects of mitochondrial disease. Advanced cardiac monitoring to establish the safety and efficacy of exercise in patients with mitochondrial disease. Bringing together our experiences of exercise prescription in developing complex interventions, such as exercise and physical activity, to understand how a physical activity care pathway could be designed and implemented, in collaboration with patients. Evaluation of cognitive changes in patients with mitochondrial myopathies. Development and validation of a patient-centred and disease-specific quality of life tool. Analysis of functional outcome measures that enable us to quantify the impact of symptoms on functional capacity and health related quality of life. Finally another major area of research interest is to explore the emerging role of mitochondrial mechanisms and exercise in age-related loss of muscle mass and strength which begins in the fourth decade of life. This has synonymous associations with increased fragility, loss of functional capacity, loss of independence and increased burden on healthcare costs. Added value of being an MRC Centre PI The MRC Centre has allowed my group to have increased interactions with clinical, basic and translational expertise through the centre PIs in both Newcastle and UCL. The access to well phenotyped cohorts has enhanced my research in mitochondrial diseases and especially in exercise studies. Professor Rita Horvath I was trained as a neurologist at the Semmelweis Medical School in Budapest and started my career as a Clinical Research Fellow of the Hungarian Academy of Sciences. I received funding from the Soros Foundation to do research in mitochondrial diseases with Professor Eric Shoubridge in the Montreal Neurological Institute, which determined the direction of my career ever since. After my return to Budapest, I introduced genetic testing for mitochondrial disease in Hungary, completed my PhD on mitochondrial disease and became a consultant in neurology. In my research was based on a diagnostic service in Munich, and I focused on identifying the primary cause in a high number of patients with different types of mitochondrial disease. I moved to Newcastle in 2007 and I focussed my research to study diseases caused by abnormal mitochondrial protein synthesis. I have received a New Investigator Award from the MRC and a Consolidator Grant from the ERC for studying a unique mitochondrial condition, reversible infantile cytochrome c oxidase (COX) deficiency and for unveiling factors that are important in the tissue specificity of mitochondrial diseases. I believe that the better understanding of the compensatory factors will offer important clues towards molecular therapies. As a Wellcome Trust Investigator I explore the pathomechanism of nuclear disease genes causing abnormal mitochondrial protein synthesis by using human cells and zebrafish as disease models. In addition to my work on mitochondrial disease, I have developed a new clinical service in Newcastle for a large group of patients with inherited peripheral neuropathies (Charcot-Marie-Tooth disease, CMT). 20 P a g e

21 The better characterisation of the clinical phenotypes, the improvement of next generation sequencing techniques enabled the identification of the primary genetic cause in a much higher number of patients with CMT. This patient cohort is the base for expanding my research activities in inherited neuropathies and I successfully obtained funding for this research from the Wellcome Trust and from the MRC UK. Added value of being an MRC Centre PI As an MRC Centre PI, I received extensive help from Professor Mary Reilly (UCL) to develop a new clinic and research programme in Newcastle on Charcot-Marie-Tooth disease. This work is supported with a clinical research fellow, who is currently completing her PhD on CMT. CMT had been identified as an area for research of importance to the MRC neuromuscular centre to be developed and to be linked in with other activities of the centre. Dr Kieren Hollingsworth Reducing the cost and patient burden of MRI in clinical trials: acceleration of quantitative MRI using novel reconstruction techniques. MRI is not just a powerful tool for radiologists to visualise diseased tissue, but rather it can be used to accurately measure the disease state of tissue or the function of an organ, and this has informed my research over the last decade. Applications include tracking disease progression in muscular dystrophy, or examining the lipid content of the liver and pancreas and type 2 diabetes. However, MRI examinations typically require the patient to lie still for many minutes at a time, and a whole examination can take an hour or more. This is a lot for a patient to tolerate within the context of other visits in a clinical trial protocol and MRI scanning time is costly (~ 500/hr in the UK). There are now active trials in Duchenne muscular dystrophy, a muscle wasting disease that affects young boys as young as 4-5 years old, who find it particularly challenging to keep still in the scanner. My research as Principal Investigator, funded by the MRC, is to develop and validate highly accelerated MRI measurements by acquiring less data and using a new reconstruction technique. To date, I have demonstrated that we can speed up the scanning by a factor of 5 times to measure the progressing disease in muscular dystrophy. The clinical validation work was published in the leading international journal Radiology, available here. The technical exploration of how to find the most robust method for doing this was published in Magnetic Resonance in Medicine and is available here. My present activity as part of this grant is to validate similar accelerations in the heart, and in the liver and pancreas of patients with type 2 diabetes. Added value of being an MRC Centre PI Being a PI within the MRC Centre for Neuromuscular Diseases has been invaluable in my work for providing close contact between the MR and clinical specialists working within the Centre. In particular, the MRI resource and personnel supported by the centre has ensured that multi-centre research in DMD, LGMD2I and myotonic dystrophy can be executed in a unified way which allows the researchers in the centre to benefit from recruitment in both Newcastle and London. 21 P a g e

22 Professor Hanns Lochmüller I have a long-standing interest in the molecular genetics of the inherited myopathies and neuromuscular junction disorders, and my research focuses on the further study of animal models of these disorders as a means to understand their pathophysiology, as well as to develop the means to monitor disease progression and therapeutic interventions. My research encompasses multiple model systems such as zebrafish and mouse in vivo models, cell culture models and clinical studies involving patients. Recent research successes include identifying novel genes for congenital myasthenic syndromes (Senderek et al., 2011; Beeson et al., 2006), developing methods for ipsc cell generation (Dick et al., 2010) and viral vector testing (Jorgensen et al., 2009), and evaluating the effects of potential therapies in vivo (Jorgensen et al., 2011). This has enabled me to secure several prestigious grants including three MRC project grants (one as principal applicant), charitable funding such as AFM and Lundbeck Foundation grants and significant EU funding for networking activities such as TREAT-NMD, BIO-NMD and CARE-NMD. Recent examples of our translational activities include clinical trials of anti-sense oligonucleotides to induce exon skipping in DMD (as part of the MDEX consortium in collaboration with AVI and also working with Prosensa/GSK). I am the local PI for a multi-centre clinical trial of Olesoxime in SMA (in collaboration with Trophos). We are also involved in a long term study of steroid efficacy in DMD funded by NIH. This is in addition to the enabling activities of TREAT-NMD, BIO-NMD, CNMD and EuroBioBank which provide infrastructure (patient registries, BioBanks and materials) to the wider community. These activities continue to contribute to the global translational effort in neuromuscular diseases and have made possible a large number of trials in the UK and abroad. In addition, the model provided by TREAT- NMD is being adopted as an exemplar for the organization of translational activities in rare disorders in general. Added value of being an MRC Centre PI The MRC Centre has allowed me to draw on the expertise of colleagues in Newcastle and London and work with those colleagues to build a national resource in Genetic disease - this has developed me as an investigator and broadening my network of potential collaborators. Dr Robert McFarland In 2000 I began my research career studying the molecular consequences and associated clinical phenotypes of mitochondrial trna point mutations. Since then my research has included the 22 P a g e

23 identification of mitochondrial and nuclear gene defects causing disease in children, factors determining pathogenicity of mitochondrial DNA mutations and clinical research. The latter has specifically involved the development of clinical assessment tools (NMDAS and NPMDS), drug trials and more recently, bringing together a living cohort of almost 1400 individuals with confirmed mitochondrial disease. Research Interests: My research aims are to understand the pathological processes that cause mitochondrial disease in children, explore the molecular aetiology of these diseases and dissect out the factors that influence disease expression. A related research theme is exploration of the natural history of mitochondrial disease, an area that has been greatly facilitated by the development of the multi-centre MRC Mitochondrial Disease Patient Cohort Study (UK) on which I have taken a national lead. The Cohort is also proving a valuable resource for recruitment to clinical trials, another area in which I have a keen interest. Added value of being an MRC Centre PI The MRC Centre has allowed me to draw on the expertise of colleagues in Newcastle and London and work with those colleagues to build a national resource in the form of the MitoCohort - this has developed me as a researcher and broadening my network of potential collaborators. Professor Volker Straub Volker Straub is The Harold Macmillan Professor of Medicine and Professor of Neuromuscular Genetics at the Institute of Genetic Medicine at Newcastle University, United Kingdom. He is a director of the university s John Walton Muscular Dystrophy Research Centre and holds honorary clinical appointments with the Newcastle upon Tyne Hospitals NHS Foundation Trust and the North Tees and Hartlepool NHS Foundation Trust. He is part of the steering committee of the MRC Centre for neuromuscular diseases and an executive board member of the World Muscle Society. He was founding joint coordinator of TREAT-NMD, which has as its ultimate goal accelerating the development of curative treatments for patients with neuromuscular diseases. Professor Straub trained as a paediatric neurologist at the University of Düsseldorf and the University of Essen in Germany. He wrote his PhD thesis on Duchenne muscular dystrophy and worked as a postdoctoral research fellow at the Howard Hughes Medical Centre at the University of Iowa, USA. Within the John Walton Muscular Dystrophy Research Centre Professor Straub has a long-standing interest in the pathogenesis of muscular dystrophies, with research using zebrafish and mouse models. His current research also involves the application of next generation sequencing and other omics technologies for the characterization of primary muscle diseases. He is a steering group member of several EU funded projects and is coordinating the FP7 funded EU project SCOPE- NMD. Professor Straub also chairs the MYO-MRI COST-Action (BM1304) studying the applications of MR imaging and spectroscopy techniques in neuromuscular disease. Prof Straub s academic focus has been and remains translational research for genetic neuromuscular diseases. This research is motivated by his hopes of accelerating the development of curative treatments and enabling the best care for patients. Added value of being an MRC Centre PI The MRC Centre has facilitated Prof Straub s work by providing him with a mechanism to draw on the expertise of colleagues in Newcastle and London whilst concurrently working with those 23 P a g e

24 colleagues to build a national resource for genetic disease. These activities have developed him as an investigator and have broadened his network of potential collaborators Professor Robert Taylor I began my research by studying the biochemical and molecular genetic basis of mitochondrial respiratory chain and fatty acid oxidation disorders, with a particular emphasis on understanding the control of oxidative phosphorylation on fatty acid β-oxidation flux. Following periods of post-doctoral research focussed on investigating the role of mitochondrial DNA mutations in diabetes and the development of experimental gene therapy strategies for the treatment of heteroplasmic mitochondrial DNA disorders, I developed a programme of work embedded within a multidisciplinary, NHS Mitochondrial Diagnostic laboratory to both identify and characterise novel mitochondrial and nuclear genetic defects causing mitochondrial disease and dissect the molecular mechanisms leading to cellular dysfunction. The overall aim of my research is to use biochemical, molecular genetic and cell biological tools to diagnose and characterise the molecular pathology associated with human mitochondrial (both mtdna-derived and Mendelian) disorders so as to understand disease mechanism and benefit patient care through the development of treatments and provision of accurate genetic advice. This work is wide-ranging, encompassing projects aimed at:1. defining the prevalence, natural history and genotype:phenotype correlations associated mitochondrial disease 2. improving the laboratory diagnosis and options for prenatal and preconceptional genetic screening 3. documenting the neuropathological changes associated with mitochondrial genetic disease to delineate the molecular mechanisms leading to neuronal loss and neurological deficits in patients with mitochondrial disease 4. using next generation sequencing strategies including whole exome and whole genome sequencing to identify novel disease genes associated with a range of mitochondrial oxidative phosphorylation defects (focusing primarily on mtdna depletion syndromes, isolated complex I deficiency and generalised disorders of mitochondrial protein synthesis) with the broader aim of characterising the mechanisms which underlie post-transcriptional mitochondrial gene expression. Added value of being an MRC Centre PI Uniquely positioned at the diagnostic-research interface, I collaborate extensively with a number of International clinical and basic scientists as well as colleagues across the MRC centre, which provides access to unprecedented patient cohorts and the opportunity to study mitochondrial dysfunction in a range of muscle pathologies. 24 P a g e

25 Professor Michael Trenell My core research projects look at how metabolism can be improved in a number of different metabolic disorders. A significant focus of my research is on how increased physical activity and exercise can be used as a clinical therapy in metabolic disorders (Type 2 diabetes and nonalcoholic fatty liver disease), neuromuscular disease, ageing and in promoting lifelong health and wellbeing. I also have a strong background in multinuclear magnetic resonance spectroscopy and imaging techniques and use these frequently to investigate metabolism. In January 2009 I established MoveLab under pump priming funding from the Medical Research Council with clinical colleagues in Newcastle. The objective of this laboratory is to provide a complete translational research platform; building both the evidence base of movement as a clinical therapy and a pathway for delivery into care. At a basic science level, we have a program of studies investigating the interaction of physical inactivity, physical activity, and exercise upon molecular, genetic and metabolic function with collaborators in the UK and overseas. At an intermediate level, we are addressing two key questions: what type of activity is best and how much is needed to use physical activity and exercise as a therapy? These studies are identifying the dose response of both resistance and aerobic exercise upon clinical outcomes. At a clinical delivery level, we are working with clinical care and patient groups to move these findings into clinical care. We are developing the UK s first accredited professional and patient development pathways for physical activity and exercise for use as a clinical therapy in primary care. This is an exciting area which is expanding rapidly. Added value of being an MRC Centre PI Being part of the MRC Centre has placed us at the forefront of lifestyle interventions for people with neuromuscular disease. With colleagues in Holland, France and Germany we are helping lead one of the largest trials of lifestyle and self-management for people with neuromuscular disease. The centre has also brought together academics, physicians and AHPs from across multiple sites across the country to better understand the impact of neuromuscular disease on everyday physical activity as well as the potential for everyday movement to be used as a therapy to support patients to self - manage. Dr James Miller Local PI for NIHR CSP UKMyonet. Identification of disease susceptibility genes associated with development and clinical characteristics of primary inflammatory muscle diseases, PM, DM and IBM. Local PI for NIHR CSP IGOS. Clinical and biological determinants of disease course in Guillain-Barre syndrome: a prospective UK-wide observational study interfacing with the 25 P a g e

26 International Guillain-Barre syndrome Outcome Study IGOS. Local PI for NIHR CSP: RESILIENT. A randomized, double-blind, placebo-controlled, multicenter, parallel group, dosefinding, pivotal, phase IIb/III study to evaluate the efficacy, safety and tolerability of intravenous BYM338 in patients with sporadic inclusion body myositis. Local PI for NIHR ID Using Next Generation Sequencing to Unravel the Pathogenesis of Sporadic Inclusion Body Myositis (IBM) International - IBM Consortium Genetic Study. This very large collection of DNA will allow more detailed genetic studies to understand the genetic risks factors for this disease. Added value of being an MRC Centre PI The centre facilitates collaboration with other neuromuscular specialists based in the centre in London. Cambridge Professor Patrick Chinnery Mitochondrial disorders affect approximately 1 in 4300 of the population and cause progressive, incurable diseases that often result in premature death. The primary genetic defect affects either nuclear DNA or mitochondrial DNA (mtdna), and ultimately leads to a biochemical defect of ATP synthesis. However, despite having the same basic biochemical basis, mitochondrial disorders have an enormously variable clinical presentation and disease course. My laboratory aims to determine the major nuclear and mitochondrial genetic factors that modulate the clinical expression of mitochondrial disorders, thus explaining the variable phenotype. Specifically, we are working to (i) define the sub-cellular mechanism responsible for the mtdna genetic bottleneck during female germ cell development (ii) characterise novel nuclear gene defects in patients with Mendelian mitochondrial disorders (iii) define critical nuclear-mtdna interactions through the investigation of homoplasmic mtdna diseases. These three laboratory research themes dove tail into a clinical translational research programme studying the natural history of mitochondrial disease, and developing new treatments through investigator-led experimental medicine studies and clinical trials in partnership with the pharmaceutical industry. Added value of being an MRC Centre PI Membership of the MRC Centre for Neuromuscular diseases provides a vehicle for effective collaboration with PIs across the UK, giving access to patient cohorts and technology that increases the pace of translational research in mitochondrial diseases. 26 P a g e

27 Appendix 2. CVs of new PIs appointed since last review Thomas Voit Current role Professor UCL Institute of Child Health and Honorary Consultant, Great Ormond Street Hospital Trust; Director Designate, ICH NIHR Biomedical Research Centre; Vice-Dean for Enterprise, Faculty of Population Health Science Previous Posts Professor of Paediatrics (PU-PH), University Pierre et Marie Curie Sorbonne and Medical and Scientific Director, Institute of Myology, GH Pitie-Salpetriere, Paris, France Managing Director, Centre for Paediatrics and Adolescent Medicine, University of Essen, Germany Professor and Chair of Paediatrics and Director of the Department of General Paediatrics and Paediatric Neurology, University of Essen, Germany Professor of Paediatric Neurology, University of Düsseldorf, Germany Research profile My research is focussed on the development of new treatment approaches, notably gene therapy, for neuromuscular disorders (NMDs). It comprises the invention and conception of new molecular treatment approaches and their development as well as the development of new outcome measures (biomarkers, MRI/MRS, muscle force and function measures) and their validation in phase 1-2 clinical trials. Sixteen patents document inventions and publications bearing on the first three drugs under FDA filing for Duchenne MD (ataluren, drisapersen, catena) provide proof of pull-through capacity. My experimental focus will develop new antisense-mediated, Gapmer-mediated, and raav-mediated approaches for facioscapulohumeral MD. Two patents filed describe the novelty of these complementary approaches silencing the pathologically activated transcription factor DUX4 at the mrna and protein level. Functional in vitro and in vivo these approaches will be taken through preclinical and clinical development. A second focus is the combinatorial approach of antisense and gene therapy for dystrophic tissue (patent filed). This approach has the capacity to augment the effect of gene therapy in mdx mice 10-fold. The technologies applied will serve as platform technologies to tackle a large number of NMDs including spinal muscular atrophy (patented, under exploitation), SOD1-linked ALS (patented, under exploitation) and Duchenne muscular dystrophy (patented). Publications Currently 272 publications in PubMed, H-Factor 65, > citations 1 P a g e

28 Giampetro Schiavo Current role Professor of Cellular Neurobiology, UCL ION Research profile My discoveries have advanced cellular microbiology and neurobiology by: 1. Elucidating the mechanism of action of bacterial toxins, which has been crucial for their exploitation as vaccines and therapeutics; and 2. Revealing key steps in the regulation of axonal retrograde transport of ligand receptor complexes, such as neurotrophins and their receptors. My research programme at the UCL-Institute of Neurology aims to uncover the molecular mechanisms modulating axonal retrograde transport in health and disease, and identifying new pharmacological targets to restore physiological axonal retrograde transport in neurorodegenerative conditions. I strongly believe that only by understanding the basic principles of membrane trafficking and signalling will we be able to uncover the pathological changes in the nervous system leading to neurodegeneration. These fundamental processes might then be exploited to provide an earlier and more accurate diagnosis and improved pharmacological treatments. Selected recent publications 1. Rishal I, et al. Motor driven intracellular length sensing in neurons. Cell Rep : Terenzio M, et al. Bicaudal-D1 regulates the intracellular sorting and signalling of neurotrophin receptors. EMBO J : Bercsenyi K, et al. Nidogens are therapeutic targets for the prevention of tetanus. Science : Ahmed M, et al. Targeting protein homeostasis as a novel therapeutic approach in Sporadic Inclusion Body Myositis. Sci Transl Med :331ra Twelvetrees AE, et al. The dynamic localization of cytoplasmic dynein in neurons is driven by kinesin-1. Neuron in press. Key grants awarded 1. MRC: Novel and bespoke mouse models for dissecting neurodegenerative disease.03/ / M 2. Horserace Betting Levy Board: Why do horses roar? From the beginning to the end of recurrent laryngeal neuropathy. 02/ / k 3. NC3Rs Fellowship: A new Drosophila-based strategy to study mitochondrial transport and neuronal ageing in vivo. 07/ / k 4. Wellcome Trust: Control of receptor trafficking as a therapeutic target in the inherited neuropathies (A. Rossor). 07/ / k 5. MNDA: Regulation of intracellular traffic by TBK1 and its relevance to Amyotrophic Lateral Sclerosis. 09/ / k 6. Wellcome Trust: The mechanism controlling sorting and axonal retrograde transport in neurons 09/ / M 7. MRC: Investigating deficits of axonal RNA metabolism and axonal signalling in ALS 8. (P. Fratta). 06/ / M 9. Fondation Thierry Latran: Deficits in axonal transport as a target for pharmacological intervention in Amyotrophic Lateral Sclerosis. 09/ / k 10. Alzheimer s Research UK: UCL Drug Discovery Institute 09/ / M 11. BBSRC: Mechanisms controlling axonal retrograde transport. 09/ / k 12. Welcome Trust: Dissecting Neuronal Specificity in Hereditary Neuropathy 06/ / k 2 P a g e

29 Paul Whiting Current role Chief Scientific Officer, Alzheimer s Research UK UCL Drug Discovery Institute Previous posts Senior Director, Pfizer Neusentis, Cambridge, UK Executive Director, Pfizer Regenerative Medicine, Cambridge, UK Research Biography Paul obtained a first class honours degree in Biochemistry & Microbiology from the University of Leeds, followed by a PhD at the University of London. He moved to the Salk Institute for Biological Studies in San Diego for postdoctoral studies. Paul subsequently joined the Neuroscience Research Centre, Merck Research Laboratories, where he moved from lab scientist to Head of Molecular and Cellular Neurosciences. Paul joined Pfizer in 2006, and in 2008 he helped establish the new Pfizer Regenerative Medicine research unit in Cambridge UK, becoming site head and leading the small molecule and cell therapy programs. In 2011 the regenerative medicine activities were incorporated into a new Pfizer research unit, Neusentis, where he was Head of Molecular and Cellular Biology until October 2015 when he moved to UCL Institute of Neurology to become the Chief Scientific Officer for the Alzheimer s Research UK UCL Drug Discovery Institute. He has extensive experience in Neuroscience drug discovery, from target identification/validation through to leading early stage clinical programmes for both small molecules and cell therapies. He has served on the Medical Research Council Neuroscience and Mental Health Board, and is currently a member of the MRC Regenerative Medicine Research Committee and U.K Regenerative Medicine Platform Board. He served on the Biological Sciences committee for assessment of UK University & Research Institutions (RAE 2008) and the Neuroscience and Psychology committee for assessment of UK University & Research Institutions (REF 2014: Research Excellence Framework). In 2009 he was appointed Honorary Professor in the Division of Biosciences, University College London. Key Grants awarded Alzheimer s Research UK. Funding for UCL Drug Discovery Institute. 10M ( ). Selected Recent Publications 1. Choudhary P, Gutteridge A, Impey E, Storer RI, Owen RM, Whiting PJ, & Benn CL. (2016). Targeting the camp and Transforming Growth Factor-β Pathway Increases Proliferation to Promote Re-Epithelialization of Human Stem Cell-Derived Retinal Pigment Epithelium. Stem Cells Transl Med: Cao L, McDonnell A, Nitzsche A, Alexandrou A, Saintot PP, Whiting P, & Stevens EB (2016). Pharmacological reversal of a pain phenotype in ipsc-derived sensory neurons and patients with inherited erythromelalgia. Sci Transl Med: 20; 8 (335). 3. Whiting P, Kerby J, Coffey P, da Cruz L, McKernan R. Progressing a human embryonic stem-cell-based regenerative medicine therapy towards the clinic. (2015). Philos Trans R Soc Lond B Biol Sci. 370 (1680). 4. Choudhary P, Dodsworth BT, Sidders B, Gutteridge A, Michaelides C, Whiting PJ, & Benn L. (2015). A FOXM1 Dependent Mesenchymal-Epithelial Transition in Retinal Pigment Epithelium Cells. 10 (6). 5. Young GT, Gutteridge A, Fox HD, Wilbrey AL, Cao L, Whiting P, & Stevens EB (2014). Characterizing human stem cell-derived sensory neurons at the single-cell level reveals their ion channel expression and utility in pain research. Mol Ther. 22 (8): P a g e

30 Avan Aihie Sayer Current role Director, NIHR Newcastle BRC and Professor of Geriatric Medicine, Newcastle University Honorary Consultant in Geriatric Medicine, Newcastle upon Tyne Hospitals NHS Foundation Trust Visiting Professor of Geriatric Medicine, MRC Lifecourse Epidemiology Unit, University of Southampton Research profile Avan Aihie Sayer was appointed Director of the NIHR Newcastle Biomedical Research Centre in Ageing and Chronic Disease and Professor of Geriatric Medicine at Newcastle University in January She led the Newcastle application for the 2016 NIHR Biomedical Research Centre competition. Her research is focused on the role of skeletal muscle in ageing, health and disease particularly the ageing syndromes of sarcopenia and frailty and this has been supported by MRC programme grant funding since Recent MRC Programme Grants 1. Sarcopenia and frailty: a lifecourse approach. Sayer AA, Robinson SM, Gale CR, Cooper C. 2,700,000 MRC Programme Grant Sarcopenia, frailty and clinical practice in older people. Sayer AA, Gale CR, Cooper C. 2,840,000 Medical Research Council Programme Grant Selected Recent Publications (PubMed search terms: Sayer AA or Aihie Sayer A or Sayer AP or Aihie A) 1. Sayer AA, Kirkwood TBL. Grip strength and mortality: a biomarker of ageing? Lancet 2015 Jul 18;386(9990): Nead KT, Li A, Wehner MR, Neupane B et al Contribution of common non-synonymous variants in PCSK1 to body-mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331,175 individuals. Human Molecular Genetics. 2015;24(12): Patel HP, White MC, Westbury L, Syddall HE, Stephens PJ, Clough GF, Cooper C, Sayer AA. Skeletal muscle morphology in sarcopenia defined using the EWGSOP criteria: findings from the Hertfordshire Sarcopenia Study (HSS). BMC Geriatr Dec 18;15: Roberts HC, Syddall HE, Butchart JW, Stack EL, Cooper C, Sayer AA. The association of grip strength with severity and duration of Parkinson s: a cross-sectional study. Neurorehabil Neural Repair 2015;29(9): Dodds R, Sayer AA. Sarcopenia and frailty: new challenges for clinical practice. Clin Med (Lond) 2015; 15 Suppl 6: s Syddall HE, Westbury LD, Cooper C, Sayer AA. Self-reported walking speed: a useful marker of physical performance among community-dwelling older people? J Am Med Dir Assoc 2015; 16 (4): Lewis A, Lee JY, Donaldson AV, Natanek SA, Vaidyanathan S, Man WD, Hopkinson NS, Sayer AA, Patel HP, Cooper C, Syddall H, Polkey MI, Kemp PR. Increased expression of H19/miR-675 is associated with a low fat-free mass index in patients with COPD. J Cach Sarc Mus 2016;7(3): North TL, Ben-Shlomo Y, Cooper C, Deary IJ, Gallacher J, Kivimaki M, Kumari M, Martin RM, Pattie A, Sayer AA, Starr JM, Wong A, Kuh D, Rodriguez S, Day IN. A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height. J Med Genet 2016;53(4): P a g e

31 Michael Lunn Current role Consultant Neurologist and Clinical Lead in Neuroimmunology March 2007 present National Hospital for Neurology and Neurosurgery, Queen Square, London Research profile FORCIDP fingolimod in CIDP CSL Behring funded PATH study - SCIG for CIDP Predictive biomarkers for anti-mag neuropathy POEMS syndrome biomarkers and clinical phenotypes Leonard Wolfson Biomarker Discovery Project biomarker discovery in neurology International GBS Outcomes Study (IGOS) a cohort study to identify biomarkers in GBS Selected recent publications 1. Schirmer L, et al. Higher frequencies of HLA DQB1*05:01 and anti-glycosphingolipid antibodies in a cluster of severe Guillain-Barré syndrome. J Neurol Aug Paterson RW, et al. Do cerebrospinal fluid transfer methods affect measured amyloid β42, total tau, and phosphorylated tau in clinical practice? Alzheimers Dement (Amst) Jul 2;1(3): Granerod J, et al. Neuroimaging in encephalitis: analysis of imaging findings and interobserver agreement. Clin Radiol May Lunn MP, Ellis L, Hadden RD, Rajabally YA, Winer JB, Reilly MM. A proposed dosing algorithm for the individualized dosing of human immunoglobulin in chronic inflammatory neuropathies. J Peripher Nerv Syst Mar;21(1): Lunn MP, Van den Bergh PY. Outcome measures in neuromuscular disease: is the world still flat? J Peripher Nerv Syst Sep;20(3): Castillo JJ, et al Central nervous system involvement by Waldenström macroglobulinaemia (Bing-Neel syndrome): a multi-institutional retrospective study. Br J Haematol Dec Paterson RW, et al. Dissecting IWG-2 typical and atypical Alzheimer's disease: insights from cerebrospinal fluid analysis. J Neurol Dec;262(12): Vanhoutte EK, et al. Rasch-ionale for neurologists. J Peripher Nerv Syst Sep;20(3): Van den Bergh PY, Lunn MP. Future needs in peripheral neuropathy outcome measures. J Peripher Nerv Syst Sep;20(3): Key grants awarded 1. Welcome Equipment Grant SIMOA Investigation of outcome biomarkers in Guillain-Barre syndrome years Cochrane Neuromuscular Disease Group Quinquennial Renewal years Motor Neurone Disease Association- Small Grants 9000 (total) 3 years GBS Support Group Small Grants (total) 3 years Wolfson Centre for Neurodegeneration co-applicant 20m 5 years Biomarker Discovery Grant Anon (PIs Hardy, Fox, Lunn) years P a g e

32 James Miller Current Role Consultant Neurologist, Specialist interest Neuromuscular Disorders Department of Neurology, Royal Victoria Infirmary, Newcastle Upon Tyne Hospitals Research profile Current Research Studies: 1. Local PI for NIHR CSP UKMyonet. Identification of disease susceptibility genes associated with development and clinical characteristics of primary inflammatory muscle diseases, PM, DM and IBM. 2. Local PI for NIHR CSP IGOS. Clinical and biological determinants of disease course in Guillain-Barre syndrome: a prospective UK-wide observational study interfacing with the International Guillain-Barre syndrome Outcome Study IGOS. 3. Local PI for NIHR CSP: RESILIENT. A randomized, double-blind, placebocontrolled, multicenter, parallel group, dose-finding, pivotal, phase IIb/III study to evaluate the efficacy, safety and tolerability of intravenous BYM338 in patients with sporadic inclusion body myositis. 4. Local PI for NIHR ID Using Next Generation Sequencing to Unravel the Pathogenesis of Sporadic Inclusion Body Myositis (IBM) International - IBM Consortium Genetic Study. This very large collection of DNA will allow more detailed genetic studies to understand the genetic risks factors for this disease. Previous research: 1. UK CI for NIHR FORCIDP. A double-blind, randomized, multicenter, placebo controlled, parallel-group study to evaluate the efficacy and safety of fingolimod in patients with CIDP. 2. Arthritis Research Campaign Clinical Research Fellow, MRC Centre for Infection and Immunity, Dept of Rheumatology, University of Birmingham ( ). A comparison of the inflammatory infiltrate after eccentric exercise damage and polymyositis. This research formed the basis of my PhD thesis. Selected recent publications 1. Rose MR, Jones K, Leong K, Walter MC, Miller J, Dalakas MC, Brassington R, Griggs R. Treatment for inclusion body myositis. Cochrane Database of Systematic Reviews 2015, Issue 6. Art. No.: CD DOI: / CD J.A.L. Miller, A. Spyropoulos, E. Jaros, F. Galban-Horcajo, R. G. Whittaker and H. J. Willison. Anti-GQ1b ganglioside positive Miller Fisher syndrome evidence of paranodal pathology on nerve biopsy. Journal of Neuromuscular Diseases V Rodríguez Cruz PM, Luo YB, Miller J, Junckerstorff RC, Mastaglia FL, Fabian V. An analysis of the sensitivity and specificity of MHC-I and MHC-II immunohistochemical staining in muscle biopsies for the diagnosis of inflammatory myopathies. Neuromuscul Disord Jun 30. PMID: Whittaker, R.G., Chinnery, P.F. and Miller, J.A.L. Teaching Neuroimages: Muscle cramps and a raised creatine kinase. Neurology 2014 Jun 17;82(24):e Rygiel, K., Miller, J., Grady, J., Rocha, M., Taylor, R., Turnbull, D.M. "Mitochondrial and inflammatory changes in sporadic Inclusion Body Myositis" Neuropathology and Applied Neurobiology 2014 Apr 18 PMID: Rose MR; ENMC IBM Working Group. 188th ENMC International Workshop: Inclusion Body Myositis. Neuromuscul Disord. (2013) Dec;23(12): Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, et al. Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain Jun;135 (Pt6): P a g e

33 Appendix 3. Grants won by Centre PIs since renewal (2013) > 250 awards Total award value >70m Andrew Blamire EU Horizon 2020 VISION-DMD - Phase 2 Clinical Trials of VBP15: An Innovative Steroid-like Intervention on Duchenne Muscular Dystrophy Prof K Bushby, Dr ME Guglieri, Dr KG Hollingsworth, Prof AM Blamire, Prof VW Straub, other European partners Oct 2015-Sep ,832,756 ARUK Dissecting the tripartite relationship of fatigue, autonomic dysfunction and immune dysregulation Prof Fai Ng, Prof AM Blamire, Dr Mark Baker, Dr Stuart Watson, Professor Steven Rushton, Dr Peter Gallagher, Dr John-Paul Taylor Apr 2016-Sept 2018 Amount: 160,000 MRC Confidence in Concept In vivo human motor unit imaging Prof AM Blamire, Dr R Whittaker, Dr I Schofield July 2016-Apr 2016 Amount 17,748 MRC Confidence in Concept Development of translational biomarkers of glutamate dysfunction in brain tumour related epilepsy Dr M Cunningham (PI), Prof AM Blamire, Dr MR Baker, Dr GS Gorman Sept 2016-Sept 2017 Amount: 53,143 EU FP7 BIOIMAGE-NMD Novel imaging technologies for muscle disease 5.96million Kate Bushby European Commission RD-ACTION Joint Action on EU wide rare diseases information databases Jun 2015 May , Muscular Dystrophy UK (Formerly Muscular Dystrophy Campaign) TREAT-NMD Advisory Committee for Therapeutics Oct 2015 Sep , Alex s Wish Clerical Assistant post as part of the 'Newcastle plan' initiative Apr 2016 Mar , P a g e

34 Muscular Dystrophy Group of GB MDC Clinical Trials Coordinator, Newcastle Feb 2016 Feb , PTC Therapeutics International Limited Costing for PTC Feb 2016 Feb , Commission of the European Communities RARE Best practices October 2013 December ,571 European Commission TREAT-NMD Operating Grant January December 2013 Split award value 35,657 NIHR Senior Investigator Award April 2013 January ,000 Great Ormond Street Hospital Children s Charity Improving standards of care and translational research in spinal muscular atrophy April 2013 March ,507 Muscular Dystrophy Campaign MDC Clinical Trials Coordinator June 2013 June ,335 Muscular Dystrophy Campaign High throughput sequence analysis to identify genetic causes of limb girdle muscular dystrophies October 2013 September ,000 Duchenne Parent Project DMD liaison post at TREAT-NMD office October 2013 March ,518 Parent Project Muscular Dystrophy DMD Liaison post at TREAT-NMD office April September ,500 Children s National Medical Center Project 3 accelerating the agenda for academic networking in post marketing surveillance for RD 2 P a g e

35 Drug development January December ,888 Patrick Chinnery Wellcome Trust Senior Fellowship Enhancement What determines the switch from glycolytic to oxidative metabolism in the developing germ line? PI101876/B/13/A 198K National Institute for Health Research Rare Diseases Translational Research Collaboration. Disease progression in mitochondrial disease. 200K National Institute for Health Research Senior Investigator Award Renewal PI NF-SI K MRC Confidence in Concept. Bezafibrate to treat mitochondrial myopathy. Internal award. PI 100% 69K GlaxoSmithKIine. Novel biomarkers for mitochondrial disease PI 100% 197,219 Medical Research Council Clinical research capabilities call. The Newcastle University Single Cell Functional Genomics Unit (NUSCU) 1.98M. Wellcome Trust Clinical Research Training Fellowship to Dr Michael Keogh (103396/Z/13/Z) The role of inherited and acquired mitochondrial DNA mutations in dementia with Lewy bodies 221K Wellcome Trust Senior Clinical Fellowship 2nd Renewal (101876/Z/13/Z) Genetic factors modulating the expression of mitochondrial disease 1.3M Medical Research Council Maximising the value of MRC Brain Banks: high-throughput genomic studies to enrich data available to the research community. 1.7M Medical Research Council High throughput genomics and transcriptions of the human development biology resource. 891K 3 P a g e

36 Wellcome Trust Clinical Research Training Fellowship to Dr Peter Kullar Defining the cellular and molecular mechanisms of mitochondrial deafness 225K Chris Clark The Commission of the European Communities FP7-HEALTH-2013-INNOVATION-1 BIOIMAGE-NMD December 2013 December ,992 UCL Capital Equipment State of the art magnetic resonance imaging October ,000 Giulio Cossu Wellcome Trust Institutional Strategic Support Fund [WT ISSF] Nanoparticle-mediated silencing of endothelial adhesion junctions to favour systemic delivery of stem cells. A pilot study 01/03/ /09/ ,000 Wellcome Trust (Health Innovation Challenge fund) Pre-clinical development of a stem cell based gene therapy protocol and clinical proof of principle for Duchenne Muscular Dystrophy 01/06/ / , *Maratò (Spanish Foundation) New Stem Cell therapies for Duchenne Muscular Dystrophy 100,971 British Heart Foundation (PG/14/1/30549) Fate and potency of pericytes in the development and the repair of the heart 261,056 European Community EC FP7 IP Development of standard scaffolds for the rational design of bioactive materials for tissue regeneration (Biodesign) 561,000 Michael Duchen Wellcome Trust (2015) equipment grant: The Dynamic Cell: A High-Speed High-Resolution Microscopy Platform for Biomedical Imaging 490,000 ( 290,000 from WT, 200,000 MRC match funded) 4 P a g e

37 Kephalos Research Fund ( ) supporting mitochondrial research $300,000 BBSRC In situ quantification of metabolic function using fluorescence lifetime imaging. PI in Collaboration with Gyorgy Szabadkai, Angus Bain (Physics) 639,625 Parkinson s UK (K-1107) Abnormal lysosomal calcium signalling in Parkinson s disease: clues from lysosomal storage disorders Co-applicant with Sandip Patel and Tony Schapira June 2012-March ,643 SLMS capital equipment fund. to develop a high throughput high content imaging platform at UCL ,000 GSK/BBSRC CASE PhD studentship Mitochondria as therapeutic targets in human disease ,520 Action Medical research Mitochondrial quality control pathways as therapeutic targets in genetic mitochondrial disease ,243 Eisai Therapeutic Innovations Group (TIG) Funding for screening mptp inhibitors 2 positions for 3 years plus consumables GSK: post-doctoral appointment: To develop small molecule inhibitors of the permeability transition pore 143,000 (to be funded on an annual basis but with promise of renewals) EPSRC Post-doctoral fellowship for Tom Blacker for 1 year Two UCL Grand Challenge studentships Jointly with Kenneth Smith Elizabeth Fisher MRC Novel and bespoke mouse models for dissecting neurodegenerative disease With Linda Greensmith, Giampietro Schiavo, Abraham Acevedo-Arozena, Pietro Fratta, Adrian Isaacs, Frances Wiseman April 16 to Mar 20 award number MC_EX_MR/N501931/1. 1,781, P a g e

38 Rosetrees Foundation 24 months from March 2015 to February 2017 A novel approach to determining the role of axonal RNAs in motor neuron disease (amyotrophic lateral sclerosis) 9601 American Association (Fisher 15 IIP-198) August 2014 July 2015 A new humanised delta-14 mutant mouse model for dissecting the pathobiology of FUS-ALS. $80,000 Motor Neurone Disease Association Fisher (10/442) PhD studentship Characterising a novel delta14 Fus mouse model 3 years from Oct 2014 to Sept 2017 With Dr Abraham Acevedo 112,690 Medical Research Council MR/L021056/1 36 months from Sept 2014 to August 2017 New humanised mouse models for dissecting the pathobiology of disease, using FUS-ALS as a paradigm 994,155 Alzheimer s Society PhD studentship PhD studentship 3 years from Oct 2014 to Sept 2017 Finding new molecular pathways in Alzheimer Disease 84,990 UCL PhD studentship (Simone Granno) PhD studentship 3 years from Oct 2013 to Sept 2016 The role of Wnt signalling in amyloid peptide processing in a down syndrome mouse model presenting abeta pathology with implications for the treatment of dementia ( 32,535 from the School and 32,535 from the UCL Impact studentship scheme) and 1000 consumables per year Epilepsy Research UK 20 months August 2013 to March 2014 A mouse model of seizures in Down syndrome/alzheimer disease 29,897 Medical Research Council MR/K018523/1 30 months from April 2014 to Sept 2016 Investigating a neuronal subcellular transcriptome by the novel technique of RNA TU-tagging, in a normal and ALS-related mouse model 466,205 Alzheimer s Research UK PhD studentship 3 years from Oct 2013 to Sept 2016 (Laura Pulford) Understanding Alzheimer's disease using mouse models of Down syndrome 105,250 Wellcome Trust Joint Senior Investigators Award 7 years from January 2014 to December P a g e

39 Understanding Down syndrome phenotypes through innovative mouse genetics 1,258,241 Wellcome Trust Strategic Award 5 years from Jan 2013 to December 2017 The London Down Syndrome Consortium (LonDownS): An integrated system to study the development and therapeutic amelioration of cognition and dementia. 838, Xavier Golay Olea Medical Processing pipeline for CEST Imaging Funding Period: October 2015 September ,888 SBRI NHS England A Gold Standard Perfusion Phantom for Quantitative MRI Jan 2016 Dec ,000,000 Wellcome Trust UNS16884 Multi-User Ultra-High Field Clinical Imaging Research Centre for London Jan 2017 Dec ,000,000 MS Society Grant #44 (PI: J. Greenwood; CoIs: R. Nicholas, X. Golay, M. Michaelides, J. Chataway, V. Calder, O.Ciccarelli) High dose Simvastatin treatment for Secondary Progressive Multiple Sclerosis: Impact on vascular perfusion and oxidative damage Jan 2016 Dec ,179 SBRI NHS England A Gold Standard Perfusion Phantom for Quantitative MRI 100,000 UCL Therapeutic Innovation Fund GlucoCEST as an ictal MRI method in epilepsy 59,802 Chiesi Pharmaceutical (PI: N. Robertson, CoI: X. Golay) Development of Melatonin as an Adjunct Therapy for Neonatal Encephalopathy Chiesi 1,600,000 National MS Society - US # RG 5056A4/1 (PI: K. Smith, CoI: X. Golay) Towards a greater understanding of multiple sclerosis: recognising the importance of hypoxia, and new opportunities for therapy NMSS $606,000 Wellcome Trust HICF WT (PI: P. Nachev, CoIs: S.Ourselin, G. Rees, R, Jaeger, X. Golay Synopion: a system for automatic anomaly quantification for brain imaging triage and classification WT/DoH 1,500,000 MRC MR/M006743/1 (PI: N. Robertson, CoIs: X. Golay, D. Peebles, H.E.G. Hagberg, I. Tachtsidis, C. Tann, A. Galkin, N. Klein, P. Gressens, B.W.W. Kramer, T. Wolfs, B. Fleiss) MRC 1,256,000 7 P a g e

40 MRC MR/M009106/1 (PI: T. Yousry, CoIs: N. Fox, S. Ourselin, D. Alexander, N. Weiskopf, J. Thornton, J. Warren, X. Golay) MRC 1,217,000 MRC MR/M009092/1 (PI: M. Emberton, CoIs: D. Gadian, S. Punwani, M. Lythgoe, D. Hawkes, T. Ng, X. Golay, I. Gout, M. Rodriguez-Justo, C. Swanton) MRC 5,300,000 Grainne Gorman NIHR-BRC funding: Exercise training in sedentary subjects: Assessing the benefits and impact on sarcopenia PI: Gorman; total award 107,988 MRC Centre for Neuromuscular Disease in Children and Adults at UCL and Newcastle Newcastle component Turnbull DM, Bushby K, Gorman G, Horvath R, Lochmüller H, McFarland R, Straub V, Taylor RW, Total award: 1,333, NIHR Biomedical Research Centre Mitochondrial Disease and Sports Physiology Collaboration Co-PI with Turnbull 101,109 MRC Confidence in Concept Mechanistic evaluation of stroke and mitochondrial dysfunction Co-PI with McFarland 67,000 Collaborative FP7 Project Observational Prolonged Trial in Myotonic dystrophy type 1 to Improve QoL-Standards, a Target Identification Collaboration. (Newcastle PI: Gorman) 3-year project 233,400 Linda Greensmith Orphazyme Research Grant Investigating novel therapeutic agents in models of IBM and multisystem proteinopathy in vitro and in vivo ,093 Foundation Thierry Latran Deficits in axonal transport as a target for pharmacological intervention in Amyotrophic Lateral Sclerosis ,000 Food and Drugs Administration Agency (USA) Phase II Trial of Arimoclomol in IBM $1,582,887 8 P a g e

41 MRC Research Grant Molecular chaperone function and motor neuron degeneration ,449 Motor Neuron Disease Association The role of mirnas in ALS and their use as a biomarker of disease progression ,328 MRC Programme Grant Novel and Bespoke Mouse Models for Dissecting Neurodegenerative M AFM-Telethon Targeting molecular pathways of disease in SBMA ,000 The Graham Watts Bequest Program Grant for Research into Motor Neuron Disease ,000 The Sobell Foundation/Brain Research Trust 175, Motor Neuron Disease Association A targeted proteomic analysis for biomarkers discovery in ALS A Malaspina, I Pike and L Greensmith 135, UCL Hospitals Biomedical Research Centre Neuroscience Programme The role of sphingolipids in the pathomechanism of hereditary sensory neuropathy type 1 HSN1 M Reilly (PI), M Laurá, B Kalmar and L Greensmith 96, Medical Research Council New humanised mouse models for dissecting the pathobiology of disease, using FUS-ALS as a paradigm E Fisher (PI), L Greensmith and G Schiavo 994, Motor Neuron Disease Association Optogenetically-controlled restoration of muscle function in MND model mice using engrafted ESderived motor neurons L Greensmith, B Bryson and I Lieberam 229,160 9 P a g e

42 Foundation Thierry Latran Optogenetically-Controlled Restoration of Muscle Function in ALS 160, Michael Hanna Muscular Dystrophy UK Salary for CRA (x2) Jun 2016 Feb ,000 Medical Research Council MRC Centre for Neuromuscular Diseases Centre Renewal million HEFCE Higher Education Arimoclomol for sibm proof of concept Innovation Fund 01/05/16 31/07/16 US$100,000 UCLH/NIHR BRC Matched funding for MRC Centre for Neuromuscular Diseases ,106 GOS BRC Matched funding for MRC Centre for Neuromuscular Diseases With F. Muntoni ,714 Lily Foundation Clinical Research fellow ,000 Neuromics FP7 Channelopathies for Karen Stevens ,000 UCLH BRC A randomized, double-blind, placebo controlled Fast Track phase IIa experimental pilot trial assessing efficacy of a single dose or repurposed bumetanide in genetically defined hypokalaemic periodic paralysis assessed using the electrophysiological McManus protocol Co grant holder w/ Doreen Fialho , P a g e

43 Action Medical Research Mitochondrial quality control pathways as therapeutic targets in genetic mitochondrial disease Co-grant holder w/ Michael Duchen ,243 NIHR Rare Diseases Translational Research Collaboration - IBM ,000 NIHR Rare Diseases Translational Research Co-grant holder w/ Francesco Muntoni 01/11/13-31/12/14 Mike Hanna Collaboration DMD 200,000 NIHR Rare Disease TRC Postdoctoral Fellowship IBM Pedro Machado ,333 NIHR Rare Disease TRC Postdoctoral Fellowship Channels Emma Matthews ,060 MRC Periodic paralysis: from molecules to mice Co-grant holder with R Männikkö ,146 Wellcome Trust Synaptopathies: genetics, biophysics and circuit mechanisms of paroxysmal neurological disorders Co-I ,194,451 John Hardy MRC Understanding the genes for Parkinson's disease ,417, CBD Solutions AB DNA sequence analysis of CBD Karin and Stern Morstedt , Wellcome Trust The London Down Syndrome Consortium (LonDownS) 11 P a g e

44 An integrated system to study the development and therapeutic amelioration of cognition and dementia , Wolfson Biomarker Lab - Linked to 6HBE ,663, Wolfson Foundation Isotope labelling - linked 6HBE , NIHR NIHR Dementia BRU award , MSA Development and characterisation of a human pluripotent stem cell (ipsc) derived oligodendrocyte model of MSA , JPND PERADES: Defining genetic, polygenic and environmental risk factors for Alzheimer's disease using multiple powerful cohorts, focussed epigenetics and stem perades , WTISSF Investing in Excellent Researchers - Daniah Trabzuni matched funding , JPND Risk and modifying factors in fronto temporal dementia , Biogen Using genetic variability in whole transcriptome expression in cells and tissues to understand the pathogenesis of neurodegenerative disorders , NIH NINDS Exome sequencing of pathological disease samples , Alzheimer Research UK 12 P a g e

45 Using genetic variability in whole transcriptome expression in the hippocampus and temporal cortex to understand the pathogenesis of Alzheimer Disease , Alzheimer Research UK Fellowship Pablo Garcia Reitboeck , Innovate UK through Cytox The utility of the MTOR signalling pathway dysregulation and mutational profiling in the risk stratification for future cognitive decline in mild cognitive impairment , Alzheimer s Research UK, Alborada Trust Alzheimer's Research UK Stem Cell Research Centre , MSA Trust Development and characterisation of a human pluripotent stem cell (ipsc) derived oligodendrocyte model of MSA , Kieren Hollingsworth Medical Research Council Quantitative Imaging in Juvenile Idiopathic Arthritis March 2017-February ,000 (Principal Investigator) Medical Research Council Understanding the biology of ageing muscle in the oldest old January 2016-August ,000 (Co-applicant, 5%) Medical Research Council Non-invasive quantitative ventilation imaging using fluorocarbon gases August 2016-August ,000 (Co-applicant, 5%) Diabetes UK Overcoming barriers to best management of type 2 diabetes October 2013-September m (Co-applicant, 20%) H2020 VISION-DMD January 2016-January m (Co-applicant, 5%) Newcastle Healthcare Charity 13 P a g e

46 Pancreas morphology in type 2 diabetes following reversal of diabetes January 2015-December k (Co-applicant, 50%) Rita Horvath Wellcome Trust Exploring novel molecular targets and disease mechanisms in mitochondrial protein synthesis deficiencies to develop novel treatments in mitochondrial disease Apr 2016 Mar ,152, Medical Research Council (MRC) Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases Jul 2016 Jun , ApoPharma Inc TIRCON2012-EXT UK Nov 2015 Mar , Wellcome Trust Investigator Award (109915/Z/15/Z) Project: Exploring novel molecular targets in mitochondrial protein synthesis to develop treatments in mitochondrial disease Mar 2016 Feb ,150,000 Neurosciences and Mental Health Board Grant (MR/N025431/1) Project: Exosomal protein deficiencies: how abnormal RNA metabolism results in childhood-onset neurological diseases Jul 2016 Jun ,866 Co-investigator Newton Fund (UK/Turkey) MR/N027302/1 (co-investigator with Professor Hanns Lochmüller) Project: New genomics approaches to explore the neurogenetic disease burden of consanguineous marriages in Turkey Jul 2016 Dec Wellcome Trust Pathfinder Award /Z/16/Z (co-investigator with Professor Hanns Lochmüller) Project: Strengthening the neuromuscular junction as a new concept for the treatment of congenital myasthenic syndromes and motor neuropathies with synaptic dysfunction. Apr 2016 Nov MRC Confidence in Concept Fund (co-investigator with Professor Hanns Lochmüller) Project: Strengthening the neuromuscular junction as a new concept for the treatment of congenital myasthenic syndromes and motor neuropathies with synaptic dysfunction. 14 P a g e

47 Apr 2016 Nov ,852 European Research Council (ERC) Reversibility and tissue specificity of mitochondrial translation defects in early childhood Starter Grant - Consolidator (309548) Role: PI FP7-PEOPLE-ITN (Marie-Curie Action) Mitochondrial European Educational Training MEET (317433) Role Co-Investigator with Patrick Chinnery in Newcastle, supervisor of a PhD student Total , 00, Newcastle: 577, MRC Confidence in Concept Fund (Newcastle University) Project: Developing experimental therapies for severe childhood mitochondrial diseases Role: PI hour/week 19, Henry Houlden Ataxia UK: PhD studentship: DNA repair pathways: a common genetic mechanism and potential therapeutic pathway in Spinocerebellar ataxia, Friedreich s ataxia and Huntington s disease 01/10/ /09/ ,500 Wellcome Trust: development of a next generation sequencing facility at UCL, 01/01/ /12/ ,000 UK MSA Trust: UK MSA network to identify MSA clinical cases and create a biobank 01/09/ /08/ ,000 USA MSA Coalition: Identification of DNA and RNA biomarkers. 01/05/ /04/2019 $100,000 NIHR: using next generation sequencing to identify biomarkers for neurological disorders 01/01/ /03/ ,000 Wellcome Trust Synaptopathies: genetics, biophysics and circuit mechanisms of paroxysmal neurological disorders (DMK, K Volynski, S Schorge, MG Hanna, H Houlden, JE Rothman, J Jepson, S Sisodiya, PJ Goadsby) Co-Investigator ,194,451 Hanns Lochmüller 15 P a g e

48 Ultragenyx Pharmaceutical Inc. Identifying HIBM patients Ultragenyx Sep 2015 Feb , Guarantors of Brain Adrenergic signalling and congenital myasthenic syndromes ABN Fellowship Aug 2015 Jul , Biogen Idec SMA prevalence data (Lochmüller) Jul 2015 Aug , F Hoffmann-La Roche Limited TREAT-NMD registry (Lochmüller) Aug 2015 Oct , Myotubular Trust Myotubular and Centronuclear Myopathy Patient Registry Dec 2015 Jan , Ultragenyx Pharmaceutical Inc. Identifying HIBM patients Ultragenyx Sep 2015 Feb 2017 Muscular Dystrophy UK (Formerly Muscular Dystrophy Campaign) Purchase of Embletta MPR PSG with ST+ proxy sleep recording device Nov 2015 Nov , Medical Research Council (MRC) CiC - Strengthening the neuromuscular junction as a new concept for the treatment of congenital myasthenic syndromes and motor neuropathies with synaptic dysfunction Mar 2016 Nov , Myotubular Trust Myotubular and Centronuclear Myopathy Patient Registry Dec 2015 Jan 2018 Medical Research Council (MRC) CiC - Strengthening the neuromuscular junction as a new concept for the treatment of congenital myasthenic syndromes and motor neuropathies with synaptic dysfunction Mar 2016 Nov 2016 Ultragenyx Pharmaceutical Inc. International HIBM patient registry 2 (Lochmüller) May 2016 Apr , Myotonic Dystrophy Support Group 16 P a g e

49 Myotonic Dystrophy Registry Jan 2016 Dec , Wellcome Trust Strengthening the neuromuscular junction as a new concept for the treatment of congenital myasthenic syndromes and motor neuropathies with synaptic dysfunction Oct 2016 Mar , Kindness for Kids Foundation The use of novel linker molecules as a targeted molecular treatment for Congenital Muscular Dystrophy Jun-16 May , Medical Research Council (MRC) New genomics approaches to explore the neurogenetic disease burden of consanguineous marriages in Turkey Aug 2016 Mar , European Commission TREAT-NMD Operating Grant Split award value 35,657 Medical Research Council (MRC) MRC - Centre for Neuromuscular Diseases Split award value 95,796 Association Francaise Contre les Myopathies Coordination of the global patient registries for neuromuscular disorders ,714 Duchenne Parent Project Coordination of the global patient registries for neuromuscular disorders ,892 European Commission 3GB-test proposal ,019 Eli Lilly and Co (USA) Lilly & Co (USA) ,000 Jennifer Trust for Spinal Muscular Atrophy Jennifer Trust UK SMA Co-ordinator P a g e

50 10,000 PTC Therapeutics, Inc. Patient Registry (Lochmüller) ,826 Action Duchenne Building the Knowledge Base for Therapy Development in Duchenne Muscular Dystrophy ,000 Association Francaise Contre les Myopathies Validation of Serum Biomarkers for DMD ,230 British Heart Foundation Deep molecular phenotyping of myotonic dystrophy (DM1) hipsc-cardiomyocytes to facilitate risk stratification and drug evaluation ,413 Marigold Foundation Ltd Naarden Five Years Later. A global assessment of myotonic dystrophy registries, databases and cohorts ,000 Medical Research Council (MRC) CiC: Developing an assay to measure SMN complex activity for the identification of SMA therapeutics ,565 National Cancer Institute National Institute of Cancer collaboration - UK Myotonic Dystrophy Patient Registry ,889 National Institute for Health Research (NIHR) PhenoDM1Myotonic Dystrophy type 1 (DM1) deep phenotyping to improve delivery of personalised medicine ,000 Newcastle upon Tyne Hospitals NHS Foundation Trust (NUTH)(Main) Dr Michela Guglieri RCF Support ,755 Ultragenyx Pharmaceutical Inc. Identifying patients Ultragenyx , P a g e

51 Wellcome Trust Controlling Abnormal Network Dynamics with Optogenetics (CANDO) - Full Application 7,337,845 Dimitri Kullmann Medical Research Council Gene therapy for refractory epilepsy (DMK, S Schorge, MC Walker) m Wellcome Trust Synaptopathies: genetics, biophysics and circuit mechanisms of paroxysmal neurological disorders (DMK, K Volynski, S Schorge, MG Hanna, H Houlden, JE Rothman, J Jepson, S Sisodiya, PJ Goadsby) ,194,451 Medical Research Council Periodic paralysis: from molecules to mice (R Mannikko, DMK, MG Hanna, S Schorge) ,547 Marie-Curie Fellowship for A. Lieb Wellcome Trust Sir Henry Wellcome Fellowship for D Kaetzel Optogenetic dissection and treatment of diseased neural circuitry ,000 F Hoffmann-La Roche Ltd. Roche Postdoctoral Fellowship for Amy Wolff Optogenetic and chemogenetic dissection and treatment of neural circuitry in schizophrenia ,320 Wellcome Trust Clinical Research Training Fellowship for U Vivekananda Presynaptic neurological channelopathies ,126 Wellcome Trust Clinical Postdoctoral Fellowship for S Crisp Pathological mechanisms in human disorders of glycinergic transmission , P a g e

52 Brain Research Trust PhD studentship for Jonathan Cornford Epilepsy Research UK Optogenetic control of GABAergic interneurons during epileptiform activity ,800 MRC Activity-dependent regulation of synaptic strength and cellular mechanisms of migraine (KE Volynski, I Pavlov, DMK) , European Commission Marie-Curie Fellowship to Gabriele Lignani Mike Lunn Cochrane Neuromuscular Disease Group Quinquennial Renewal ,000 SIMOA analyser in Neuroimmunology/Leonard Wolfson Neurodegenerative biomarkers project Wellcome Equipment Grant Robert McFarland MRC Confidence in Concept Mechanistic evaluation of stroke and mitochondrial dysfunction K Wellcome Trust Public Engagement Programme K Co-PI Ryan Stanford Appeal PhD Studentship Fight Alpers K Co-PI Lily Foundation Award, Improving the molecular genetic diagnosis of mitochondrial disease K Co-PI NIHR RCF Award Development and evaluation of a national diagnostic strategy for paediatric mitochondrial disease P a g e

53 49K. Co-PI Jenny Morgan Muscular Dystrophy Campaign. The effect of modulating the dystrophic skeletal muscle environment on donor stem cell engraftment. P.I (Co-applicant Dr Silvia Torelli ,225 UCL Therapeutic Innovation Fund Pharmacological inhibition of programmed necrosis in dystrophic skeletal muscle ,077 Muscular Dystrophy Campaign Mechanisms of myonecrosis in Duchenne Muscular Dystrophy: can we control the death of muscle fibres? ,944 Francesco Muntoni MRC Neuromuscular Translational research centre Grant MRC Muntoni Co-PI 3,000, Horizon 2020 Neuromics (at UCL) Muntoni UK PI SMA Trust Improving standards of care and translational research in SMA 264,000 Muntoni PI NIHR Rare Disease Initiative Neuromuscular Diseases: Deep Duchenne muscular dystrophy phenotyping Muntoni PI ,000 Cure CMD Serum mirna in dystroglycanopathies Muntoni PI $ 25,000 MRC 21 P a g e

54 Peptide Conjugated oligonucleotides for splice switching therapy of SMA Wood PI, Muntoni Co-PI ,008,000 AFM A multicentre natural history study on DMD Muntoni Coordinator and CI ,000 Genethon Pre-U7 natural history study Muntoni PI 50, MDC Allele-selective suppression by antisense oligonucleotide as a therapeutic strategy for collagen VIrelated congenital muscular dystrophy Muntoni PI ,861 Horizon 2020 Bioimage Muntoni UK co-pi : (at UCL) Horizon2020 enhance motor function in physically disabled people Muntoni UK PI, ,000 SMA Europe Identification of micrornas as biomarkers and potential therapeutic targets in spinal muscular atrophy Muntoni PI ,000 GOSH Charity Vascular abnormalities in Spinal Muscular Atrophy Muntoni PI ,500 Muscular Dystrophy UK Repair of duplications in dystrophin using CRSIPR/ Cas9 Muntoni PI , P a g e

55 Great Ormond Street Hospital Charity Development of new Gene Therapy approaches for Spinal Muscular Atrophy PhD Studentship ,000 Horizon2020 EPIBSC An European Bank for induced pluripotent Stem Cellsat UCL Muntoni PI ,000 Roche RO in SMA PI ,557 ISIS Pharmaceutics Clinical Efficacy and Safety of ISIS ,611 Pfizer Anti-GDF8 antibody in Duchenne Muscular Dystrophy PI Summit C1004 A phase II study of C1100 in Duchenne Muscular Dystrophy Esperare A phase Ib study of Rimeporide in DMD Summit C1005 A Phase I study of a new formulation of C1002 in DMD Chief Investigator 2016 Roche Olesoxime open label extension in SMA PI Gita Ramdharry Kingston University Small research grant: 4k 2016 NIHR Research for Patient Benefit grant based at UCLH NHS trust. Principle Investigator. 23 P a g e

56 Aerobic training in neuromuscular diseases. (grant number PB-PG G613) 52K grant extension Charcot Marie Tooth UK charity Principle Investigator Home based balance training for people with Charcot Marie Tooth Diseases: A feasibility study 31K for one year study Clinical Research Network Funding for a 6 month research physiotherapist 17,561 NIHR Research for Patient Benefit grant based at UCLH NHS trust. Principle Investigator. Aerobic training in neuromuscular diseases. (grant number PB-PG G613) 194K Co-applicant for NIHR HTA grant [13/30/02] Orthotic management of instability of the knee in neuromuscular disease. PI Dr Catriona Mcdaid, University of York 158,860 Clinical Research Network funding for a 6 month research physiotherapist 19,006 Mary Reilly NIH RDCRC grant for Inherited Neuropathy Consortium (CO-PI) approx. $5 million MDA USA Understanding early-onset neuropathies using genome and transcriptome sequencing: ,580 MRC Training fellowship for Dr Umaiyal Kugathasan HSN1 secondary to SPTCL1/SPTLC2 mutations: Pathogenesis and treatment ,849 CMT UK grant for MRI scanning ,000 BRC Hereditary Sensory Neuropathy type 1 (HSN1): exploring the role of 1-deoxysphingolipids (1-dSLs) in the pathogenesis of the disease and defining outcome measures for a clinical trial. PI , P a g e

57 MRC Centre grant renewal for London Newcastle Centre for Neuromuscular disease (Co-Director) million Giampietro Schiavo MRC Programme Grant Novel and bespoke mouse models for dissecting neurodegenerative disease. MR/N501931/1. To: EL Fisher, L Greensmith, G Schiavo, A Isaacs, P Fratta, F Wiseman and A Acevedo M Horserace Betting Levy Board. Why do horses roar? From the beginning to the end of recurrent laryngeal neuropathy. To: R Piercy, A. Draper, J. Cheetham, G Schiavo, S Brown and J Perkins ,867 NC3Rs Fellowship. A new Drosophila-based strategy to study mitochondrial transport and neuronal ageing in vivo. To: Dr A Vagnoni ,000 The Wellcome Trust Postdoctoral Training Fellowship for Clinicians Control of receptor trafficking as a therapeutic target in the inherited neuropathies /Z/15/Z. To: A Rossor and G Schiavo ,604 MNDA PhD Fellowship. Regulation of intracellular traffic by TBK1 and its relevance to Amyotrophic Lateral Sclerosis. To: G Schiavo and P Fratta ,842 MRC Clinical Fellowship Investigating deficits of axonal RNA metabolism and axonal signalling in ALS To P. Fratta ,156,170 Fondation Thierry Latran. Deficits in axonal transport as a target for pharmacological intervention in Amyotrophic Lateral Sclerosis. To: G Schiavo and L Greensmith. 117,000 for 18 months The Wellcome Trust. Senior Investigator Award 1.74M for 5 years Alzheimer s Research UK UCL Drug Discovery Institute. Lead Academic Scientist (with B. De Strooper and J. Hardy). 25 P a g e

58 10M for 5 years Medical Research Council s UK Dementias Platform (UKDP). Co-PI (UCL Chairman: T.T. Warner). 1.9M for the set-up of a new high-throughput phenotypic cell screening facility BBSRC Industrial CASE PhD Fellowship. Mechanisms controlling the axonal retrograde transport pathway. To: G Schiavo and L Greensmith. 92,694 for 48 months Sir Henry Wellcome Fellowship (to Dr J Sleigh). The Welcome Trust. Dissecting Neuronal Specificity in Hereditary Neuropathy. 250,000 for 48 months Stephanie Schorge MRC Programme grant Gene therapy for refractory epilepsy PI: D Kullmann, Co-Is: S Schorge, M Walker M Wellcome Trust Strategic Award Synaptopathies: genetics, biophysics and circuit mechanisms of paroxysmal neurological disorders PI: D Kullmann 2014; 5 Years ~ 4.2M. MRC research grant Functional significance of neuronal sodium channel splicing in epilepsy and pain ,156 European FP7 grant EpiMiRNA Partner (Work package leader and UCL PI) Total funding to to UCL ~400,000 Royal Society University Research Fellowship (renewal) Changing ion channels in the development and treatment of disease 400,000 Volker Straub Duchenne Now Testosterone Therapy in DMD Nov 2015 Jan , Muscular Dystrophy UK (Formerly Muscular Dystrophy Campaign) Brain imaging and cognition in boys with Duchenne muscular dystrophy Oct 2015 Sep , RCF Support 26 P a g e

59 Newcastle upon Tyne Hospitals NHS Foundation Trust (NUTH) 153,755 Jesse s Journey Second generation exon-skipping therapy combined with pharmacological inhibition of the sodiumhydrogen exchanger: effects on cardiac and skeletal muscle in a mouse model of DMD. Feb ,623 LGMD2I Research Fund Charities MYO-SEQ 22,856 Dec 2014 Muscular Dystrophy UK (Formerly Muscular Dystrophy Campaign) Brain imaging and cognition in boys with Duchenne muscular dystrophy Nov ,337 Association Francaise Contre les Myopathies Advances in oligonucleotide-mediated exon skipping for DMD and related disorders - WP3 Aug ,613 Ultragenyx Pharmaceutical Inc Ultragenyx MYO-SEQ Jun ,087 Action Duchenne Building the Knowledge Base for Therapy Development in Duchenne Muscular Dystrophy May ,000 Action Duchenne Exosomes: a novel therapeutic approach for the treatment of dystrophinopathies Jan ,411 COST Office Applications of MR imaging and spectroscopy techniques in neuromuscular disease: collaboration on outcome measures and pattern recognition for diagnostics and therapy development Dec ,688 Genzyme Europe B.V. Genzyme MYO-SEQ (Straub) Nov ,542 Medical Research Council (MRC) Peptide conjugated oligonucleotides for splice switching therapy of Spinal Muscular Atrophy Jul , P a g e

60 Medical Research Council (MRC) MRC - Centre for Neuromuscular Diseases Jun ,958 NCLE HOSPITALS NHS Steriod Therapy 49,719 MUSCULAR DYSTROPHY Fibre Damage 223,472 NEWCASTLE HEALTHCARE Targets of SMN1 44,186 FED MINISTRY OF EDUC German Musc Dyst Network 20,413 ASSOC FRANCAISE Fututin and FKRP Genes 13,393 ACTION DUCHENNE TREAT COMM OF EUROPEAN Antisense Oligonucleotides 31,923 EUROPEAN COMMISSION NMD Chip 68,966 ASSOC FRANCAISE Zebrafish Models 29,204 DUCHENNE IRELAND AONs in Mouse Models 62,160 ASSOC FRANCAISE In-Vivo Sarcolemmal 27,040 EUROPEAN COMMISSION CARE-NMD 176,877 AVI BIOPHARMA INC AVI Biopharma 86, P a g e

61 MULTI Oligonucleotide Technology 70,866 PARENT PROJECT MUSCU Research in Duchenne Muscular Dystrophy 9,000 EUROPEAN COMMISSION TREAT NMD Operating Grant 142,629 ASSOC FRANCAISE MDEX Consortium WP3 Extension 94,61 Rob Taylor The Lily Foundation PhD studentship The evaluation of novel mitochondrial disease genes identified by whole exome sequencing. co-pi with Dr R. McFarland ,200 The Lily Foundation Diagnosis of mitochondrial disease using whole exome sequencing. co-pi with Prof D.M. Turnbull and Dr R. McFarland 90,000 MRC Molecular Pathology Node Call The Newcastle Proximity Laboratory PI Prof A.G. Hall, co-investigator; 3.8M total funding award NIHR Newcastle Biomedical Research Centre Project Funding Improving the diagnosis of mitochondrial respiratory chain dysfunction using quantitative immunohistochemistry PI with Dr K Rygiel 100,176 John Thornton Medtronic Inc., Demonstrating state-of-the-art neurological MRI for patients with DBS equipment in situ consistent with new product-label MRI safety conditions PI 40, UCLH NIHR BRC Neuroimaging Initiative staff support award PI 174, P a g e

62 UCL Neuroscience ZNZ Collaboration grant: Improving imaging for preoperative neurosurgical targeting and intraoperative image guidance Thornton Co-I, PIs T. Yousry, R Tuura 10, MRC Next generation MRI brain imaging platform for dementia research: from microstructure to function Grant to substantially upgrade research MRI platform Co-I, PI T. Yousry 1.4M 2014 UCLH NIHR BRC Neuroscience Programme Big Questions Funding Call; Novel biomarkers in amyotrophic lateral sclerosis Co-I, PI L. Greensmith 251, Michael Trenell National Institute for Health Research; National Health Innovation Observatory PI and Director Jun ,001,000 Medical Research Council / Unilever CASE Studentship exploring sleep and metabolism Oct ,000 European Institute for Innovation and Training; Delivering digital diabetes care at scale across Europe (with Philips, Achmea, & German National Diabetes Centre). Sept ,000 Sport England / National Lottery; Move into Sport. Apr ,000 ESRC / Alzheimer s Society Standing up for Dementia: exchanging knowledge on developing a patient and professional pathway for physical activity and exercise. Jan ,000 NIHR Biomedical Research Centre; Industry Collaboration Award 30 P a g e

63 Aug ,000 Doug Turnbull NIHR Senior Investigators Award 45,000 Wellcome Trust Wellcome Trust Centre for Mitochondrial Research 4,436,273 Wellcome Trust Wellcome Trust Centre for Mitochondrial Research Public Engagement Enhancement ,551 Newcastle University Hospitals NHS Trust RCF - Salary funding for Grainne Gorman ,010 e-therapeutics Collaboration - testing compounds ,665 MRC Centre for Ageing and Activity ,907,201 MRC Centre for Brain Ageing & Activity Bridging funding ,971 Newcastle Healthcare Charity The importance of mitochondrial dysfunction in the pathogenesis of osteoporosis ,489 NIHR BRC - Treating mitochondrial dysfunction - mechanisms underlying response to specific compounds ,002 Novartis Institutes for BioMedical Research Inc Monogenetic mitochondrial disorders $100,000 Wellcome Trust 31 P a g e

64 Eve's Curse: the Art of mitochondrial disease ,000 NIHR BRC - NHS Service Support for Mitochondrial theme ,428 MRC and BBSRC Centre for Ageing and Vitality (PI and Director) supported by Lifelong Health and Wellbeing M Thomas Voit (PI since 2016) UCL Therapeutic Innovation Fund and Wellcome Trust Institutional Strategic Support Fund (105604/Z/14/Z) K Tarek Yousry MRC A next-generation MRI brain imaging platform for dementia research: from microstructure to function ,217,068 MS Society of GB Imaging research to facilitate treatments for multiple sclerosis April 2013 March ,350,000 MRC MRC Centre for Neuromuscular disease PI for imaging M Wellcome Trust & MRC A systematic investigation into the pathogenesis and course of PD's syndrome M The Stroke Association & BHF Microbleeds and genetic risk factors to predict the risk of intracranial haemorrhage in patients treated with anticoagulation k 32 P a g e

65 Appendix 4. New publications from Centre since last review *denotes PI (UCL/NCL) collaboration Bold indicates UCL/NCL PI Total number of publications: 810 Total number of publications with more than one PI as author: 311 Michael Hanna 1. Rose MR, et al. ENMC International Workshop: Inclusion Body Myositis, 2-4 December 2011, Naarden, The Netherlands. Neuromuscular Disorders Dec; 23(12):1044:55. PMID: Fratta P, Hanna MG, Fisher EM, Sidle K. An unusual presentation for SOD1-ALS: isolated facial diplegia. Muscle Nerve Dec;48(6): PMID: Cortese A, Plagnol V, Brady S, Simone R, Lashley T, Acevedo-Arozena A, de Silva R, Greensmith L, Holton J, Hanna MG, Fisher EM, Fratta P. Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy. Neurobiol Aging Dec 30. [Epub ahead of print] PMID: *Graham CD, Weinman J, Sadjadi R, Chalder T, Petty R, Hanna MG, Turner C, Parton M, Maddison P, Radunovic A, Longman C, Robb Y, Bushby K, Hilton-Jones D, Rose MR. A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle disease. Clin Rehabil Nov 15. [Epub ahead of print] PMID: Machado P, Brady S, Hanna MG. Update in inclusion body myositis. Curr Opin Rheumatol Nov;25(6): PMID: Jaffer F, Reilly MM, Quinlivan R, Muntoni F, Turner C, Parton M, Lunn M, Hilton-Jones D, Korkodilos M, Hanna MG. Emergency neuromuscular admissions are avoidable: a regional audit of unplanned hospital admissions of neuromuscular patients : final results and recommendations. J Neurol Neurosurg Psychiatry Nov;84(11):e2. PMID: Pitceathly RD, Taanman JW, Rahman S, Meunier B, Sadowski M, Cirak S, Hargreaves I, Land JM, Nanji T, Polke JM, Woodward CE, Sweeney MG, Solanki S, Foley AR, Hurles ME, Stalker J, Blake J, Holton JL, Phadke R, Muntoni F, Reilly MM, Hanna MG. COX10 Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood. JAMA Neurol Oct 7. [Epub ahead of print] PMID: Fischmann A, Morrow JM, Sinclair CD, Reilly MM, Hanna MG, Yousry T, Thornton JS. Improved anatomical reproducibility in quantitative lower-limb muscle MRI. J Magn Reson Imaging Oct 7. [Epub ahead of print] PMID: Tan SV, Z'graggen WJ, Boërio D, Rayan DR, Norwood F, Ruddy D, Howard R, Hanna MG, Bostock H. Chloride channels in myotonia congenita assessed by velocity recovery cycles. Muscle Nerve Sep 4. [Epub ahead of print] PMID: *Fratta P, Collins T, Pemble S, Nethisinghe S, Devoy A, Giunti P, Sweeney MG, Hanna MG, Fisher EM. Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions. Neurobiol Aging Sep 13 [Epub ahead of print] PMID: P a g e

66 11. *Turner C, Hilton-Jones D, Lochmüller H, Hanna MG. MRC Centre for Neuromuscular Diseases 1st (1st December 2010), and 2nd (2nd May 2012) myotonic dystrophy workshops, London, UK and the myotonic dystrophy standards of care and national registry meeting, Newcastle, UK July Neuromuscul Disord Sep 18. [Epub ahead of print] PMID: Spillane J, Fialho D, Hanna MG. Diagnosis of skeletal muscle channelopathies. Expert Opin Med Diagn Sep 26. [Epub ahead of print] PMID: *Willis TA, Hollingsworth K, Coombs A, Sveen M, Andersen S, Stojkovic T et al. Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study, PLoS One, 2013 Aug 14;8(8). PMID: *Pfeffer G, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S et al. New treatments for mitochondrial disease no time to drop our standards. Nature Reviews Neurology, July 2013, PMID: Ke Q et al. Rare disease centers for periodic paralysis: China vs the US and UK. Muscle Nerve July 28. PMID: *Fratta P, Hanna MG, Fisher EM, Sidle K. An unusual presentation for SOD1- ALS:Isolated facial diplegia. Muscle Nerve Jul 19. [Epub ahead of print] PMID: *Pitceathly RD, Rahman S, Wedatilake Y, Polke JM, Cirak S, Foley AR, Sailer A, Hurles ME, Stalker J, Hargreaves I, Woodward CE, Sweeney MG, Muntoni F, Houlden H, Taanman JW, Hanna MG; UK10K Consortium. NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease. Cell Rep Jun 27;3(6): Epub 2013 Jun 6. PMID: Trivedi JR, Bundy B, Statland J, Salajegheh M, Rayan DR, Venance SL, Wang Y, Fialho D, Matthews E, Cleland J, Gorham N, Herbelin L, Cannon S, Amato A, Griggs RC, Hanna MG, Barohn RJ; CINCH Consortium. Non-dystrophic myotonia: prospective study of objective and patient reported outcomes. Brain Jul;136(Pt 7): Epub 2013 Jun 13. PMID: *Morrow JM, Matthews E, Raja Rayan DL, Fischmann A, Sinclair CD, Reilly MM, Thornton JS, Hanna MG, Yousry TA. Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias. Neuromuscul Disord Aug;23(8): Epub 2013 Jun 27. PMID: *Morrow JM, Reilly MM, Hanna MG. Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. Neurology Jun 11;80(24):2276. PMID: Wallace A, Dewar E, Skorupinska M, Laura M, Morrow JM, Sterr A, Hanna MG et al. Evaluating the benefits of community based aerobic training on the physical health and wellbeing of people with neuromuscular diseases: a pilot study. Journal of the Peripheral Nervous System. 18: June Burge JA, Hanna MG, Schorge S. Non-genomic actions of progesterone and 17βestradiol on the chloride conductance of skeletal muscle. Muscle Nerve Apr 26. [Epub ahead of print] PMID: Thorne T, Fratta P, Hanna MG, Cortese A, Plagnol V, Fisher EM, Stumpf MP. Graphical modelling of molecular networks underlying sporadic inclusion body myositis. Mol Biosyst Apr 17. [Epub ahead of print] PMID: P a g e

67 24. *Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, et al. ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation. Hum Mutat Apr 18. PubMed PMID: Horga A, Raja Rayan DL, Matthews E, Sud R, Fialho D, Durran SC, Burge JA, Portaro S, Davis MB, Haworth A, Hanna MG. Prevalence study of genetically defined skeletal muscle channelopathies in England. Neurology Apr 16;80(16): Epub 2013 Mar 20. PMID: Cortese A, Machado P, Morrow J, Dewar L, Hiscock A, Miller A, Brady S, Hilton-Jones D, Parton M, Hanna MG. Longitudinal observational study of sporadic inclusion body myositis: Implications for clinical trials. Neuromuscul Disord May;23(5): Epub 2013 Mar 11. PMID: Rajakulendran S, Roberts J, Koltzenburg M, Hanna MG, Stewart H. Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia. J Neurol Neurosurg Psychiatry Mar 9. [Epub ahead of print] PMID: Rajakulendran S, Roberts J, Koltzenburg M, Hanna MG, Stewart H. Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia. J Neurol Neurosurg Psychiatry Nov;84(11): Epub 2013 Mar 9. PMID: Malik B, Nirmalananthan N, Gray AL, La Spada AR, Hanna MG, Greensmith L. Coinduction of the heat shock response ameliorates disease progression in a mouse model of human spinal and bulbar muscular atrophy: implications for therapy. Brain Mar;136(Pt 3): Epub 2013 Feb 7. PMID: Smith MD, Seth JH, Hanna MG, Panicker JN. Detrusor overactivity in Becker muscular dystrophy. Muscle Nerve Mar;47(3): Epub 2013 Feb 4. PMID: Tomlinson SE, Rajakulendran S, Tan SV, Graves TD, Bamiou DE, Labrum RW, Burke D, Sue CM, Giunti P, Schorge S, Kullmann DM, Hanna MG. Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1. J Neurol Neurosurg Psychiatry Jan 24. [Epub ahead of print] PMID: *Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R. The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243a>g mutation implications for diagnosis and management. J Neurol Neurosurg Psychiatry Jan 25. [Epub ahead of print] PMID: Portaro S, Musumeci O, Rizzo V, Rodolico C, Buccasfusca M, Toscano A, Sweeney MG, Hanna MG. Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita. Neuromuscular Disorders 23(1):52-55 Jan PMID: Morrow JM, Matthews E, Raja Rayan D, Fischmann A, Sinclair CDJ, Reilly MM, Thornton JS, Hanna MG, Yousry T. Muscle MRI reveals distinct abnormalities genetically proven non-dystrophic myotonias. Neuromuscular Disorders PMID: Pitceathly RDS, Tomlinson SE, Holton JL, Morrow JM, Rahman S, Hanna MG et al. Distal myopathy with cachexia: an unrecognized phenotype caused by dominantly-inherited mitochondrial polymerase y mutations. JNNP 84(1): Jan PMID: P a g e

68 36. *Willis TA, Hollingsworth KG, Coombs A, Sveen ML, Andersen S, Stojkovic T, Eagle M, Mayhew A, de Sousa PL, Dewar L, Morrow JM, Sinclair CD, Thornton JS, Bushby K, Lochmüller H, Hanna MG, Hogrel JY, Carlier PG, Vissing J, Straub V. Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. PLoS One. 2013;8(8):e ecollection PMID: Machado PM, Ahmed M, Brady S, Gang Q, Healy E, Morrow JM, Wallace AC, Dewar L, Ramdharry G, Parton M, Holton JL, Houlden H, Greensmith L, Hanna MG. Ongoing developments in sporadic inclusion body myositis. Curr Rheumatol Rep Dec;16(12):477. PMID: Corrochano S, Männikkö R, Joyce PI, McGoldrick P, Wettstein J, Lassi G, Raja Rayan DL, Blanco G, Quinn C, Liavas A, Lionikas A, Amior N, Dick J, Healy EG, Stewart M, Carter S, Hutchinson M, Bentley L, Fratta P, Cortese A, Cox R, Brown SD, Tucci V, Wackerhage H, Amato AA, Greensmith L, Koltzenburg M, Hanna MG, Acevedo-Arozena A. Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis. Brain Dec;137(Pt 12): PMID: *Horga A, Pitceathly RD, Blake JC, Woodward CE, Zapater P, Fratter C, Mudanohwo EE, Plant GT, Houlden H, Sweeney MG, Hanna MG, Reilly MM. Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia. Brain Dec;137(Pt 12): PMID: *Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Am J Hum Genet Nov 6;95(5): PMID: Singh RR, Tan SV, Hanna MG, Robb SA, Clarke A, Jungbluth H. Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm. Pediatrics Nov;134(5):e PMID: Matthews E, Hanna MG. Repurposing of sodium channel antagonists as potential new anti-myotonic drugs. Exp Neurol Nov;261: PMID: Suetterlin K, Männikkö R, Hanna MG. Muscle channelopathies: recent advances in genetics, pathophysiology and therapy. Curr Opin Neurol Oct;27(5): PMID: Quinlivan R, Matthews E, Hanna MG. Innovative care model for patients with complex muscle diseases. Curr Opin Neurol Oct;27(5): PMID: Gang Q, Bettencourt C, Machado P, Hanna MG, Houlden H. Sporadic inclusion body myositis: the genetic contributions to the pathogenesis. Orphanet J Rare Dis Jun 19;9:88. Review. PubMed PMID: Montague K, Malik B, Gray AL, La Spada AR, Hanna MG, Szabadkai G, Greensmith L. Endoplasmic reticulum stress in spinal and bulbar muscular atrophy: a potential target for therapy. Brain Jul;137(Pt 7): Epub 2014 Jun 4. PMID: Fratta P, Nirmalananthan N, Masset L, Skorupinska I, Collins T, Cortese A, Pemble S, Malaspina A, Fisher EM, Greensmith L, Hanna MG. Correlation of clinical and molecular 4 P a g e

69 features in spinal bulbar muscular atrophy. Neurology May 9. [Epub ahead of print] PMID: Birbeck GL, Hanna MG, Griggs RC. Global opportunities and challenges for clinical neuroscience. JAMA Apr 23-30;311(16): PMID: Morrow JM, Sinclair CD, Fischmann A, Reilly MM, Hanna MG, Yousry TA, Thornton JS. Reproducibility, and age, body-weight and gender dependency of candidate skeletal muscle MRI outcome measures in healthy volunteers. Eur Radiol Apr 20. [Epub ahead of print] PMID: Foley AR, Pitceathly RD, He J, Kim J, Pearson NM, Muntoni F, Hanna MG. Wholegenome sequencing and the clinician: a tale of two cities. J Neurol Neurosurg Psychiatry Apr 4.[Epub ahead of print] PMID: Graves TD, Cha YH, Hahn AF, Barohn R, Salajegheh MK, Griggs RC, Bundy BN, Jen JC, Baloh RW, Hanna MG; CINCH Investigators. Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation. Brain Apr;137(Pt 4): Epub 2014 Feb 26. PMID: *Willis TA, Hollingsworth KG, Coombs A, Sveen ML, Andersen S, Stojkovic T, Eagle M, Mayhew A, de Sousa PL, Dewar L, Morrow JM, Sinclair CD, Thornton JS, Bushby K, Lochmuller H, Hanna MG, Hogrel JY, Carlier PG, Vissing J, Straub V. Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational crosssectional study. PLoS One Feb 28;9(2) PMID: Habbout K, Poulin H, Rivier F, Giuliano S, Sternberg D, Fontaine B, Eymard B,Morales RJ, Echenne B, King L, Hanna MG, Männikkö R, Chahine M, Nicole S,Bendahhou S. A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. Neurology Jan 12;86(2): Epub 2015 Dec 11. PubMed PMID: Suetterlin KJ, Bugiardini E, Kaski JP, Morrow JM, Matthews E, Hanna MG, Fialho D. Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies. JAMA Neurol Dec;72(12): PubMed PMID: Poole OV, Hanna MG, Pitceathly RD. Mitochondrial disorders: disease mechanisms and therapeutic approaches. Discov Med Nov;20(111): PubMed PMID: Gang Q, Bettencourt C, Houlden H, Hanna MG, Machado PM. Genetic advances in sporadic inclusion body myositis. Curr Opin Rheumatol Nov;27(6): Review. PubMed PMID: Spillane J, Kullmann DM, Hanna MG. Genetic neurological channelopathies:molecular genetics and clinical phenotypes. J Neurol Neurosurg Psychiatry Jan;87(1): Epub 2015 Nov 11. Review. PubMed PMID: Morrow JM, Sinclair CD, Fischmann A, Machado PM, Reilly MM, Yousry TA,Thornton JS, Hanna MG. MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study. Lancet Neurol Jan;15(1): Epub 2015 Nov 6. PubMed PMID: Rothwell S, Cooper RG, Lundberg IE, Miller FW, Gregersen PK, Bowes J,Vencovsky J, Danko K, Limaye V, Selva-O'Callaghan A, Hanna MG, Machado PM, Pachman LM, Reed AM, Rider LG, Cobb J, Platt H, Molberg Ø, Benveniste O, Mathiesen P, Radstake T, Doria A, De Bleecker J, De Paepe B, Maurer B, Ollier WE, Padyukov L, O'Hanlon TP, Lee A, Amos CI, Gieger C, Meitinger T, Winkelmann J, Wedderburn LR, Chinoy H, Lamb JA; 5 P a g e

70 Myositis Genetics Consortium. Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups. Ann Rheum Dis Aug;75(8): Epub 2015 Sep 11. PubMed PMID: Gilbert JR, Symmonds M, Hanna MG, Dolan RJ, Friston KJ, Moran RJ. Profiling neuronal ion channelopathies with non-invasive brain imaging and dynamic causal models: Case studies of single gene mutations. Neuroimage Jan 1;124(Pt A): Epub 2015 Sep 3. PubMed PMID: Jaffer F, Avbersek A, Vavassori R, Fons C, Campistol J, Stagnaro M, De Grandis E, Veneselli E, Rosewich H, Gianotta M, Zucca C, Ragona F, Granata T, Nardocci N, Mikati M, Helseth AR, Boelman C, Minassian BA, Johns S, Garry SI, Scheffer IE, Gourfinkel-An I, Carrilho I, Aylett SE, Parton M, Hanna MG, Houlden H, Neville B, Kurian MA, Novy J, Sander JW, Lambiase PD, Behr ER, Schyns T, Arzimanoglou A, Cross JH, Kaski JP, Sisodiya SM. Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. Brain Oct;138(Pt 10): Epub 2015 Aug 21. PubMed PMID: *Figueroa-Bonaparte S, Hudson J, Barresi R, Polvikoski T, Williams T, Töpf A, Harris E, Hilton-Jones D, Petty R, Willis TA, Longman C, Dougan CF, Parton MJ,Hanna MG, Quinlivan R, Farrugia ME, Guglieri M, Bushby K, Straub V, Lochmüller H, Evangelista T. Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK. J Neurol Neurosurg Psychiatry Jun;87(6): Epub 2015 Jun 23. PubMed PMID: Broomfield A, Sweeney MG, Woodward CE, Fratter C, Morris AM, Leonard JV, Abulhoul L, Grunewald S, Clayton PT, Hanna MG, Poulton J, Rahman S. Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. J Inherit Metab Dis May;38(3): PMID: Sewry CA, Holton JL, Dick DJ, Muntoni F, Hanna MG. Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1). Neuromuscul Disord May;25(5): PMID: Pitceathly RD, Morrow JM, Sinclair CD, Woodward C, Sweeney MG, Rahman S, Plant GT, Ali N, Bremner F, Davagnanam I, Yousry TA, Hanna MG, Thornton JS. Extra-ocular muscle MRI in genetically-defined mitochondrial disease. Eur Radiol May 21. [Epub ahead of print] PMID: Gang Q, Bettencourt C, Machado PM, Fox Z, Brady S, Healy E, Parton M, Holton JL, Hilton-Jones D, Shieh PB, Zanoteli E, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Hanna MG, Houlden H; Muscle Study Group and the International IBM Genetics Consortium. The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis. Neurobiol Aging Apr;36(4):1766.e1-3. PMID: *Hall AM, Vilasi A, Garcia-Perez I, Lapsley M, Alston CL, Pitceathly RD, McFarland R, Schaefer AM, Turnbull DM, Beaumont NJ, Hsuan JJ, Cutillas PR, Lindon JC, Holmes E, Unwin RJ, Taylor RW, Gorman GS, Rahman S, Hanna MG. The urinary proteome and metabonome differ from normal in adults with mitochondrial disease. Kidney Int Mar;87(3): PMID: Herbert MK, Stammen-Vogelzangs J, Verbeek MM, Rietveld A, Lundberg IE, Chinoy H, Lamb JA, Cooper RG, Roberts M, Badrising UA, De Bleecker JL, Machado PM, Hanna MG, Plestilova L, Vencovsky J, van Engelen BG, Pruijn GJ. Disease specificity of autoantibodies to cytosolic 5'-nucleotidase 1A in sporadic inclusion body myositis versus known 6 P a g e

71 autoimmune diseases. Ann Rheum Dis Feb 24. pii: annrheumdis PMID: Fratta P, Hanna MG. Neuromuscular diseases: progress in gene discovery drives diagnostics and therapeutics. Lancet Neurol Jan;14(1):13-4. PMID: Akman G, Desai R, Bailey LJ, Yasukawa T, Dalla Rosa I, Durigon R, Holmes JB, Moss CF, Mennuni M, Houlden H, Crouch RJ, Hanna MG, Pitceathly RD, Spinazzola A, Holt IJ. Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria. Proc Natl Acad Sci U S A Jul 8. [Epub ahead of print] PubMed PMID: Mestre TA, Manole A, MacDonald H, Riazi S, Kraeva N, Hanna MG, Lang AE, Männikkö R, Yoon G. A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia. Neurogenetics Jun 8. [Epub ahead of print] PubMed PMID: Bertolin C, Querin G, Da Re E, Sagnelli A, Bello L, Cao M, Muscas M, Pennuto M, Ermani M, Pegoraro E, Mariotti C, Gellera C, Hanna MG, Pareyson D, Fratta P,Sorarù G. No effect of AR polyg polymorphism on spinal and bulbar muscular atrophy phenotype. Eur J Neurol Jun;23(6): PMID: *Scalco RS, Gardiner AR, Pitceathly RD, Hilton-Jones D, Schapira AH, Turner C, Parton M, Desikan M, Barresi R, Marsh J, Manzur AY, Childs AM, Feng L, Murphy E, Lamont PJ, Ravenscroft G, Wallefeld W, Davis MR, Laing NG, Holton JL, Fialho D, Bushby K, Hanna MG, Phadke R, Jungbluth H, Houlden H, Quinlivan R. CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies. Neuromuscul Disord May 11. [Epub ahead of print] PubMed PMID: Tan SV, Z'graggen WJ, Boërio D, Turner C, Hanna MG, Bostock H. In vivoassessment of muscle membrane properties in myotonic dystrophy. Muscle Nerve Aug;54(2): Epub 2016 May 24. PubMed PMID: Ahmed M, Machado PM, Miller A, Spicer C, Herbelin L, He J, Noel J, Wang Y, McVey AL, Pasnoor M, Gallagher P, Statland J, Lu CH, Kalmar B, Brady S, Sethi H, Samandouras G, Parton M, Holton JL, Weston A, Collinson L, Taylor JP, Schiavo G, Hanna MG, Barohn RJ, Dimachkie MM, Greensmith L. Targeting protein homeostasis in sporadic inclusion body myositis. Sci Transl Med Mar 23;8(331):331ra41. PubMed PMID: Hanna MG, Pantanowitz L. Bar Coding and Tracking in Pathology. Clin Lab Med Mar;36(1): Review. PubMed PMID: Tomlinson SE, Tan SV, Burke D, Labrum RW, Haworth A, Gibbons VS, Sweeney MG, Griggs RC, Kullmann DM, Bostock H, Hanna MG. In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2. Brain Feb;139(Pt 2): PubMed PMID: Sansone VA, Burge J, McDermott MP, Smith PC, Herr B, Tawil R, Pandya S, Kissel J, Ciafaloni E, Shieh P, Ralph JW, Amato A, Cannon SC, Trivedi J, Barohn R, Crum B, Mitsumoto H, Pestronk A, Meola G, Conwit R, Hanna MG, Griggs RC; Muscle Study Group. Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis. Neurology Apr 12;86(15): Epub 2016 Feb 10. PubMed PMID: Rajakulendran S, Pitceathly RD, Taanman JW, Costello H, Sweeney MG, Woodward CE, Jaunmuktane Z, Holton JL, Jacques TS, Harding BN, Fratter C, Hanna MG, Rahman S. A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related 7 P a g e

72 Mitochondrial Disease. PLoS One Jan 6;11(1):e ecollection PubMed PMID: Rajakulendran S, Hanna MG. The Role of Calcium Channels in Epilepsy. ColdSpring Harb Perspect Med Jan 4;6(1):a Review. PubMed PMID: Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. Brain Mar;139(Pt 3): Epub 2015 Dec 22. PubMed PMID: Gang Q, Bettencourt C, Machado PM, Brady S, Holton JL, Pittman AM, Hughes D7 Healy E, Parton M, Hilton-Jones D, Shieh PB, Needham M, Liang C, Zanoteli E, de Camargo LV, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Singleton AB, Hanna MG, Houlden H; Muscle Study Group and The International IBM Genetics Consortium. Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis. Neurobiol Aging Aug 8. pii: S (16) PMID: Mary M. Reilly 81. Mead S, Gandhi S, Beck J, Caine D, Gallujipali D, Carswell C, Hyare H, Joiner S, Ayling H, Lashley T, Linehan JM, Al-Doujaily H, Sharps B, Revesz T, Malin MD, Sandberg K, Reilly MM, Koltzenburg M, Forbes A, Rudge P, Brandner S, Warren JD, Wadsworth JDF, Wood NW, Holton JL, and Collinge J, M.D. A Novel Prion Disease Associated with Diarrhoea and Autonomic Neuropathy. N Engl J Med 2013;369: PMID: Sumner CJ, d Ydewalle, C, Wooley J, Fawcett, KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Zuchner S, Stanescu CH, Kleta R, Mankodi A, Cornblath DR, Boylan KB, Reilly MM, Greensmith L, Singleton AB, Harms MB, Rossor AM, and Houlden H*. A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance. American Journal of Human Genetics 93, , November 7, PMID: Liu Y-T, Hersheson J, Plagnol V, Fawcett K, Duberley KEC, Preza E, Hargreaves IA, Chalasani A, Laurá M, Wood NW, Reilly MM, Houlden H. Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. J Neurol Neurosurg Psychiatry November 11, 2013 as /jnnp PMID: Tucci A, Liu Y-T, Preza E, Pitceathly RDS, Chalasani A, Plagnol V, Land JM, Trabzun Di, Ryten M, on behalf of UKBEC, Jaunmuktane Z, Reilly MM, Brandner S, Hargreaves I, Hardy J, Singleton A, Abramov AY, Houlden H. Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. J Neurol Neurosurg Psychiatry November 6, 2013 as /jnnp PMID: Jaffer F, Reilly MM, Quinlivan R, Muntoni F, Turner C, Parton M, Lunn M, Hilton-Jones D, Korkodilos M, Hanna MG. Emergency neuromuscular admissions are avoidable: A regional audit of unplanned hospital admissions of neuromuscular patients : final results and recommendations J Neurol Neurosurg Psychiatry Nov;84(11):e2. 8 P a g e

73 86. Pitceathly RD, Taanman JW, Rahman S, Meunier B, Sadowski M, Cirak S, Hargreaves I, Land JM, Nanji T, Polke JM, Woodward CE, Sweeney MG, Solanki S, Foley AR, Hurles ME, Stalker J, Blake J, Holton JL, Phadke R, Muntoni F, Reilly MM, Hanna MG; COX10 Mutations Resulting in Complex Multisystem mitochondrial Disease That Remains Stable Into Adulthood. UK10K Consortium.JAMA Neurol Oct 7. PMID: Rossor AM, Polke JM, Houlden H, Reilly MM. Clinical implications of genetic advances in Charcot-Marie-Tooth disease.nat Rev Neurol Oct;9(10): PMID: Murphy SM, Laurá M, Reilly MM. DNA testing in hereditary neuropathies. Handb Clin Neurol. 2013;115: PMID: Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, Macarthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, Strom TM, Schule R, Herrmann DN, Sowden JE, Acsadi G, Menezes MP, Clarke NF, Züchner S; UK10K, Muntoni F, North KN, Reilly MM. Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia. Am J Hum Genet. 2013: 92; 1-9. PMID: Gonzalez M, McLaughlin H, Houlden H, Guo M, Yo-Tsen L, Hadjivassilious M, Speziani F, Yang XL, Antonellis A, Reilly MM, Züchner S; Inherited Neuropathy Consortium (INC). Exome sequencing identifies a significant variant in methionyl-trna synthetase (MARS) in a family with late-onset CMT2. J Neurol Neurosurg Psychiatry Jun 1. [Epub ahead of print] PMID: Morrow JM, Matthews E, Raja Rayan DL, Fischmann A, Sinclair CD, Reilly MM, Thornton JS, Hanna MG, Yousry TA. Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias. Neuromuscul Disord Jun 26 [Epub ahead of print] PMID: Reilly MM. Obstructive sleep apnoea, restless leg syndrome and Charcot-Marie-Tooth disease type 1: important associations. J Neurol Neurosurg Psychiatry Jun 11. [Epub ahead of print] PMID: Morrow JM, Reilly MM, Hanna MG. Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. Neurology. 2013: 80; PMID: Marquez-Infante C, Murphy SM, Mathew L, Alsanousi A, Lunn MP, Brandner S, Yousry TA, Blake J, Reilly MM. Asymmetric sensory ganglionopathy: A case series. Muscle Nerve Jul;48(1): PMID: Dujmovic I, Lunn MP, Reilly MM, Petzold A. Serial cerebrospinal fluid neurofilament heavy chain levels in severe Guillain-Barré syndrome. Muscle Nerve Jul; 48(1): PMID: Schwingenschuh P, Saifee TA, Katschnig-Winter P, Reilly MM, Lunn MP, Manji H, Aguirregomozcorta M, Schmidt R, Bhatia KP, Rothwell JC, Edwards MJ. Cerebellar learning distinguishes inflammatory neuropathy with and without tremor. Neurology May 14;80(20): PMID: Visioli F, Reilly MM, Rimoldi M, Solari A, Pareyson D; for the CMT-TRIAAL & CMT- TRAUK Groups. Vitamin C and Charcot-Marie-Tooth 1A: Pharmacokinetic considerations. PharmaNutrition Jan;1(1): PMID: Cottenie E, Menezes MP, Rossor AM, Morrow JM, Yousry TA, Dick DJ, Anderson JR, Jaunmuktane Z, Brandner S, Blake JC, Houlden H, Reilly MM. Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic 9 P a g e

74 inflammatory demyelinating polyneuropathy. Neuromuscul Disord May;23(5): PMID: Koutsis G, Pandraud A, Reilly MM, Wood, NW, Houlden H, Karadima G, Floroskufi P, (2013). Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie- Tooth type 1 patients. Clinical Genetics, 83(4), PMID: Murphy SM, Ernst D, Wei Y, Laurà M, Liu YT, Polke J, Blake J, Winer J, Houlden H, Hornemann T, Reilly MM. Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. Neurology Jun 4;80(23): PMID: Burns J, Menezes M, Finkel RS, Estilow T, Moroni I, Pagliano E, Laurá M, Muntoni F, Herrmann DN, Eichinger K, Shy R, Pareyson D, Reilly MM, Shy ME. Transitioning outcomes measures: Relationship between the CMTPedS and CMTNSv2 in children, adolescents and young adults with Charcot-Marie-Tooth disease. Journal of the Peripheral Nervous System 2013: 18; PMID: Stevens JC, Murphy SM, Davagnanam I, Phadke R, Anderson G, Nethisinghe S, Bremner F, Giunti P, Reilly MM. The ARSACS phenotype can include supranuclear gaze palsy and lipofuscin skin deposits. JNNP 2013: 84; PMID: Mannil M, Solari A, Leha A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel, B, Reilly MM, Sereda M W (2014). Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patient. Neuromuscul Disord. PMID: Neligan A, Reilly MM, & Lunn MP, (2014). CIDP: mimics and chameleons. Pract Neurol. PMID: Liu Y T, Laurá M, Hersheson J, Horga A, Jaunmuktane Z, Brandner S, Reilly MM, Houlden H. (2014). Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. Neurology. PMID: Morrow JM, Sinclair CDJ, Fischmann A, Reilly MM, Hanna MG, Yousry TA, Thornton JS. (2014). Reproducibility, and age, body-weight and gender dependency of candidate skeletal muscle MRI outcome measures in healthy volunteers. European Radiology, 24(7), PMID: Nobbio L, Visigalli D, Radice D, Fiorina E, Solari A, Lauria, G, Reilly MM, CMT-TRIAAL Group.(2014). PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker.. Brain, 137(Pt 6), PMID: Brewer MH, Ma KH, Beecham GW, Reilly MM, Gopinath C, the Inherited Neuropath Consortium (INC), Baas F, Antonellis A. (2014). Haplotype-Specific Modulation of a SOX10/CREB Response Element at the Charcot-Marie-Tooth Disease Type 4C Locus SH3TC2. HuMMol Genet. PMID: Laurà M, PhD 1, Hutton E, Blake J, Lunn M P, Fox Z, Pareyson D, Solari A, Radice D, Koltzenburg M, Reilly MM. Pain and small fiber function in Charcot Marie Tooth disease type 1A. Muscle Nerve Jan 2014 PMID: *Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, 10 P a g e

75 Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H, Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain 2014: 137; PMID: Piscosquito G, Reilly MM, Schenone A et al. Is overwork weakness relevant in Charcot Marie Tooth disease? J Neurol Neurosurg Psychiatry March 21, 2014 as /jnnp PMID: Schabhűtt lm, Wieland M, Senderek, Baets J, Timmerman V, De Jonghe P, Reilly MM, Stieglbauer K, Laich E, Windhager R, Erwa W, Trajanoski S, Strom T M, Auer-Grumbach M. Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. J Neurol March 15, PMID: Fischmann A, Morrow JM, Sinclair CDJ, Reilly MM, Hanna MG, Yousry T, and Thornton JS. Improved Anatomical Reproducibility in Quantitative Lower-Limb Muscle MRI. J Magn Reson Imaging 2014; 39: PMID: Evans MR, Laurá M, Chandrashekar H, Reilly MM. Cervical spinal cord compression complicating the clinical course of Charcot-Marie-Tooth type 1. BMJ Case Rep Dec 17;2015. pii: bcr PMID: Gess B, Baets J, De Jonghe P, Reilly MM, Pareyson D, Young P. Ascorbic acid for the treatment of Charcot-Marie-Tooth disease. Cochrane Database Syst Rev Dec 11;12:CD Review. PMID: Morrow JM, Sinclair CD, Fischmann A, Machado PM, Reilly MM, Yousry TA, Thornton JS, Hanna MG. MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study. Lancet Neurol Jan;15(1): Epub 2015 Nov 6. PubMed PMID: Vanhoutte EK, Faber CG, van Nes SI, Cats EA, Van der Pol WL, Gorson KC, van Doorn PA, Cornblath DR, van den Berg LH, Merkies IS; PeriNomS Study Group. Rasch-built Overall Disability Scale for Multifocal motor neuropathy (MMN-RODS( ). J Peripher Nerv Syst Sep;20(3): PMID: Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC- RDCRC). Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. Brain Nov;138(Pt 11): Epub 2015 Aug 25. PMID: ; PubMed Central PMCID: PMC Fridman V, Reilly MM. Inherited Neuropathies. Semin Neurol Aug;35(4): Epub 2015 Oct 6. PMID: Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE,, Ramchandren S, Shy RR2, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME. Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. Brain : Aug 2015 (Epub ahead of print).pmid: P a g e

76 121. Koutsis G, Lynch D, Manole A, Karadima G, Reilly MM, Houlden H, Panas M. Erratum to: Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation. J Neurol Aug;262(8):1976. PMID: Carr AS, Polke JM, Wilson J, Pelayo-Negro AL, Laura M, Nanji T, Holt J, Vaughan J, Rankin J, Sweeney MG, Blake J, Houlden H, Reilly MM.(2015). MFN2 deletion of exons 7 and 8: founder mutation in the UK population. Journal of the peripheral nervous system: JPNS. PMID: Horga A, Cottenie E, Tomaselli P J, Rojas-García R, Salvado M, Villarreal-Pérez L L, Gamez J, Márquez-Infante C, Houlden H, Reilly MM. (2015). Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies. Journal of neurology. PMID: Piscosquito G, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, Santoro L, Manganelli F, Vita G, Quattrone A, Padua L, Gemignani F, Visioli F, Laurà M, Calabrese D, Hughes RA, Radice D, Solari A, Pareyson D; CMT-TRIAAL and CMT-TRAUK Group. Responsiveness of clinical outcome measures in Charcot-Marie-Tooth disease.eur J Neurol Jul 31. PMID: Carr AS, Pelayo-Negro A L, Evans MR, Laurà M, Blake J, Stancanelli C, Iodice V, Wechalekar AD, Whelan CJ, Gilmore JD, Hawkins PN, Reilly MM. (2015). A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK. Journal of neurology, neurosurgery, and psychiatry. PMID: Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous A C, Strom TM, Samara C, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J. (2015). Transcriptional regulator PRDM12 is essential for human pain perception. Nature genetics. PMID: Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzales MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN.(2015). Reply: The.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy. Brain: a journal of neurology. PMID: Koutsis G, Lynch D, Manone A, Karadima G, Reilly MM, Houlden H, Panas M. (2015). Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation. Journal of Neurology.Jun 6 (Epub ahead of print) PMID: Healy EG, Phadke R, Kidd M, Reilly MM, Lunn MP. Clinical, neuropathological and radiological evidence for a rare complication of rituximab therapy. Neuromuscul Disord Apr 16. pii: S (15) PMID: Rossor AM, Evans MR, & Reilly, MM. (2015). A practical approach to the genetic neuropathies. Practical neurology. PMID: P a g e

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84 196. Ricotti V, Jägle H, Theodorou M, Moore AT, Muntoni F, Thompson DA. Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system. Eur J Hum Genet Apr;24(4): doi: /ejhg Epub 2015 Jun 17. PMID: Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzales MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN. Reply: The p.ser107leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy. Brain Nov;138(Pt 11):e392. Epub 2015 Jun 10. No abstract available. PMID: Finkel R, Bertini E, Muntoni F, Mercuri E; ENMC SMA Workshop Study Group.209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands. Neuromuscul Disord Jul;25(7): Epub 2015 Apr 28. No abstract available. PMID: Rokach O, Sekulic-Jablanovic M, Voermans N, Wilmshurst J, Pillay K, Heytens L, Zhou H, Muntoni F, Gautel M, Nevo Y, Mitrani-Rosenbaum S, Attali R, Finotti A, Gambari R, Mosca B, Jungbluth H, Zorzato F, Treves S. Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. Hum Mol Genet Aug 15;24(16): Epub 2015 May 27. PMID: Paco S, Kalko SG, Jou C, Rodríguez MA, Corbera J, Muntoni F, Feng L, Rivas E, Torner F, Gualandi F, Gomez-Foix AM, Ferrer A, Ortez C, Nascimento A, Colomer J, Jimenez-Mallebrera C. Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets. PLoS One May 14;10(5):e doi: /journal.pone ecollection No abstract available. PMID: Byrne S, Dlamini N, Lumsden D, Pitt M, Zaharieva I, Muntoni F, King A, Robert L, Jungbluth H. SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder. Neuromuscul Disord Jul;25(7): PMID: Meng J, Bencze M, Asfahani R, Muntoni F, Morgan JE. The effect of the muscle environment on the regenerative capacity of human skeletal muscle stem cells. Skelet Muscle Apr 28;5:11. ecollection PMID: Mercuri E, Muntoni F. Efficacy of idebenone in Duchenne muscular dystrophy. Lancet May 2;385(9979): Epub 2015 Apr 20. PMID: Astrea G, Munteanu I, Cassandrini D, Lillis S, Trovato R, Pegoraro E, Cioni G, Mercuri E, Muntoni F, Battini R. A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance. Pediatr Neurol May;52(5): Epub 2015 Feb 7. PMID: Brunklaus A, Parish E, Muntoni F, Scuplak S, Tucker SK, Fenton M, Hughes ML, Manzur AY. The value of cardiac MRI versus echocardiography in the pre-operative assessment of patients with Duchenne muscular dystrophy. Eur J Paediatr Neurol Jul;19(4): doi: /j.ejpn Epub 2015 Mar 24. PMID: Meilleur KG, Jain MS, Hynan LS, Shieh CY, Kim E, Waite M, McGuire M, Fiorini C, Glanzman AM, Main M, Rose K, Duong T, Bendixen R, Linton MM, Arveson IC, Nichols C, 20 P a g e

85 Yang K, Fischbeck KH, Wagner KR, North K, Mankodi A, Grunseich C, Hartnett EJ, Smith M, Donkervoort S, Schindler A, Kokkinis A, Leach M, Foley AR, Collins J, Muntoni F, Rutkowski A, Bönnemann CG. Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies. Neuromuscul Disord Jan;25(1): PMID: *Lynn S, Aartsma-Rus A, Bushby K, Furlong P, Goemans N, De Luca A, Mayhew A, McDonald C, Mercuri E, Muntoni F, Pohlschmidt M, Verschuuren J, Voit T, Vroom E, Wells DJ, Straub V. Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy. Neuromuscul Disord Jan;25(1): PMID: Colombo I, Scoto M, Manzur AY, Robb SA, Maggi L, Gowda V, Cullup T, Yau M, Phadke R, Sewry C, Jungbluth H, Muntoni F. Congenital myopathies: Natural history of a large pediatric cohort. Neurology Jan 6;84(1): PMID: Fridman V, Bundy B, Reilly MM, Pareyson D, Bacon C, Burns J, Day J, Feely S, Finkel RS, Grider T, Kirk CA, Herrmann DN, Laurá M, Li J, Lloyd T, Sumner CJ, Muntoni F, Piscosquito G, Ramchandren S, Shy R, Siskind CE, Yum SW, Moroni I, Pagliano E, Zuchner S, Scherer SS, Shy ME; Inherited Neuropathies Consortium. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. J Neurol Neurosurg Psychiatry Aug;86(8): PMID: De Sanctis R, Pane M, Sivo S, Ricotti V, Baranello G, Frosini S, Mazzone E, Bianco F, Fanelli L, Main M, Corlatti A, D'Amico A, Colia G, Scalise R, Palermo C, Alfonsi C, Tritto G, Romeo DM, Graziano A, Battini R, Morandi L, Bertini E, Muntoni F, Mercuri E. Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy. Neuromuscul Disord Jan;25(1):14-8. PMID: Muntoni F, Cross JH. Paediatric neurology: from molecular mechanisms to targeted treatments. Lancet Neurol Jan;14(1):16-8 PMID: Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain Feb;138(Pt 2): PMID: *Ferlini A, Flanigan KM, Lochmuller H, Muntoni F, 't Hoen PA, McNally E. 204 th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy January 2014, Naarden, The Netherlands. Neuromuscul Disord Feb;25(2): PMID: Scoto M, Rossor AM, Harms MB, Cirak S, Calissano M, Robb S, Manzur AY, Martínez Arroyo A, Rodriguez Sanz A, Mansour S, Fallon P, Hadjikoumi I, Klein A, Yang M, De Visser M, Overweg-Plandsoen WC, Baas F, Taylor JP, Benatar M, Connolly AM, Al-Lozi MT, Nixon J, de Goede CG, Foley AR, Mcwilliam C, Pitt M, Sewry C, Phadke R, Hafezparast M, Chong WK, Mercuri E, Baloh RH, Reilly MM, Muntoni F. Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy. Neurology Feb 17;84(7): PMID: Graziano A, Bianco F, D'Amico A, Moroni I, Messina S, Bruno C, Pegoraro E, Mora M, Astrea G, Magri F, Comi GP, Berardinelli A, Moggio M, Morandi L, Pini A, Petillo R, Tasca G, Monforte M, Minetti C, Mongini T, Ricci E, Gorni K, Battini R, Villanova M, Politano L, Gualandi F, Ferlini A, Muntoni F, Santorelli FM, Bertini E, Pane M, Mercuri E. Prevalence of 21 P a g e

86 congenital muscular dystrophy in Italy: a population study. Neurology Mar 3;84(9): PMID: Ricotti V, Ridout DA, Pane M, Main M, Mayhew A, Mercuri E, Manzur AY, Muntoni F; on behalf of UK NorthStar Clinical Network. The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials. J Neurol Neurosurg Psychiatry Mar 2. PMID: Sewry CA, Holton JL, Dick DJ, Muntoni F, Hanna MG. Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1). Neuromuscul Disord May;25(5): PMID: Brunklaus A, Parish E, Muntoni F, Scuplak S, Tucker SK, Fenton M, Hughes ML, Manzur AY. The value of cardiac MRI versus echocardiography in the pre-operative assessment of patients with Duchenne muscular dystrophy. Eur J Paediatr Neurol Jul;19(4): PMID: Astrea G, Munteanu I, Cassandrini D, Lillis S, Trovato R, Pegoraro E, Cioni G, Mercuri E, Muntoni F, Battini R. A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance. Pediatr Neurol May;52(5): PMID: Mercuri E, Muntoni F. Efficacy of idebenone in Duchenne muscular dystrophy. Lancet May 2;385(9979): PMID: Byrne S, Dlamini N, Lumsden D, Pitt M, Zaharieva I, Muntoni F, King A, Robert L, Jungbluth H. SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder. Neuromuscul Disord Jul;25(7): PMID: Rokach O, Sekulic-Jablanovic M, Voermans N, Wilmshurst J, Pillay K, Heytens L, Zhou H, Muntoni F, Gautel M, Nevo Y, Mitrani-Rosenbaum S, Attali R, Finotti A, Gambari R, Mosca B, Jungbluth H, Zorzato F, Treves S. Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. Hum Mol Genet Aug 15;24(16): PMID: Finkel R, Bertini E, Muntoni F, Mercuri E; ENMC SMA Workshop Study Group. 209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands. Neuromuscul Disord Jul;25(7): PMID: Mercuri E, Finkel R, Montes J, Mazzone ES, Sormani MP, Main M, Ramsey D, Mayhew A, Glanzman AM, Dunaway S, Salazar R, Pasternak A, Quigley J, Pane M, Pera MC, Scoto M, Messina S, Sframeli M, Vita GL, D'Amico A, van den Hauwe M, Sivo S, Goemans N, Kaufmann P, Darras BT, Bertini E, Muntoni F, De Vivo DC. Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials. Neuromuscul Disord Feb;26(2): doi: /j.nmd Epub 2015 Dec 3. PMID: *Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. Brain Mar;139(Pt 3): Epub 2015 Dec 22. PMID: P a g e

87 227. *Wojtal D, Kemaladewi DU, Malam Z, Abdullah S, Wong TW, Hyatt E, Baghestani Z, Pereira S, Stavropoulos J, Mouly V, Mamchaoui K, Muntoni F, Voit T, Gonorazky HD, Dowling JJ, Wilson MD, Mendoza-Londono R, Ivakine EA, Cohn RD. Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders. Am J Hum Genet Jan 7;98(1): doi: /j.ajhg Epub 2015 Dec 10. PMID: Ricotti V, Muntoni F, Voit T. Challenges of clinical trial design for DMD. Neuromuscul Disord Dec;25(12): Epub 2015 Oct 23. PMID: Ricotti V, Jägle H, Theodorou M, Moore AT, Muntoni F, Thompson DA. Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system. Eur J Hum Genet Jun 17. PMID: Mazzone E, Montes J, Main M, Mayhew A, Ramsey D, Glanzman AM, Dunaway S, Salazar R, Pasternak A, Quigley J, Pane M, Pera MC, Scoto M, Messina S, Sframeli M, D'amico A, Van Den Hauwe M, Sivo S, Goemans N, Darras BT, Kaufmann P, Bertini E, De Vivo DC, Muntoni F, Finkel R, Mercuri E. Old measures and new scores in spinal muscular atrophy patients. Muscle Nerve Jun 25. PMID: *Belaya K, Rodríguez Cruz PM, Liu WW, Maxwell S, McGowan S, Farrugia ME, Petty R, Walls TJ, Sedghi M, Basiri K, Yue WW, Sarkozy A, Bertoli M, Pitt M, Kennett R, Schaefer A, Bushby K, Parton M, Lochmüller H, Palace J, Muntoni F, Beeson D. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain Jun 30. pii: awv185. [Epub ahead of print PMID: De Goede C, Oh T, Joseph J, Muntoni F, Sewry C, Phadke R. Choline Kinase Beta- Related Muscular Dystrophy, Appearance of Muscle Involvement on Magnetic Resonance Imaging. Pediatr Neurol Jan;54: doi: /j.pediatrneurol Epub 2015 Nov 6. PMID: Somers E, Lees RD, Hoban K, Sleigh JN, Zhou H, Muntoni F, Talbot K, Gillingwater TH, Parson SH. Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy. Ann Neurol Feb;79(2): doi: /ana Epub 2016 Jan 13. PMID: Lopez RJ, Byrne S, Vukcevic M, Sekulic-Jablanovic M, Xu L, Brink M, Alamelu J, Voermans N, Snoeck M, Clement E, Muntoni F, Zhou H, Radunovic A, Mohammed S, Wraige E, Zorzato F, Treves S, Jungbluth H. An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.sci Signal Jul 5;9(435):ra68. PMID: Jungbluth H, Dowling JJ, Ferreiro A, Muntoni F; RYR1 Myopathy Consortium. 217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, January Neuromuscul Disord Jun 7. pii: S (16) [Epub ahead of print] No abstract available. PMID: Catapano F, Zaharieva I, Scoto M, Marrosu E, Morgan J, Muntoni F, Zhou H Altered Levels of MicroRNA-9, -206, and -132 in Spinal Muscular Atrophy and Their Response to Antisense Oligonucleotide Therapy.. Mol Ther Nucleic Acids Jul 5;5(7):e331. PMID: *Straub V, Balabanov P, Bushby K, Ensini M, Goemans N, De Luca A, Pereda A, Hemmings R, Campion G, Kaye E, Arechavala-Gomeza V, Goyenvalle A, Niks E, 23 P a g e

88 Veldhuizen O, Furlong P, Stoyanova-Beninska V, Wood MJ, Johnson A, Mercuri E, Muntoni F, Sepodes B, Haas M, Vroom E, Aartsma-Rus A.Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy. Lancet Neurol Jul;15(8): Review. PMID: Alshaikh N, Brunklaus A, Davis T, Robb SA, Quinlivan R, Munot P, Sarkozy A, Muntoni F, Manzur AY; Dubowitz Neuromuscular Team. Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels? Arch Dis Child May 31. [Epub ahead of print]. PMID: Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R; UK10K Rare Diseases Group. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nat Commun May 13;7: doi: /ncomms PMID: Sintusek P, Catapano F, Angkathunkayul N, Marrosu E, Parson SH, Morgan JE, Muntoni F, Zhou H. Histopathological Defects in Intestine in Severe Spinal Muscular Atrophy Mice Are Improved by Systemic Antisense Oligonucleotide Treatment. LoS One May 10;11(5):e ecollection PMID: [PubMed - in process] 241. O'Grady GL, Lek M, Lamande SR, Waddell L, Oates EC, Punetha J, Ghaoui R, Sandaradura SA, Best H, Kaur S, Davis M, Laing NG, Muntoni F, Hoffman E, MacArthur DG, Clarke NF, Cooper S, North K.Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. Ann Neurol Jul;80(1): doi: /ana Epub 2016 May 25. PMID: *Rodríguez Cruz PM, Belaya K, Basiri K, Sedghi M, Farrugia ME, Holton JL, Liu WW, Maxwell S, Petty R, Walls TJ, Kennett R, Pitt M, Sarkozy A, Parton M, Lochmüller H, Muntoni F, Palace J, Beeson D.Clinical features of the myasthenic syndrome arising from mutations in GMPPB. J Neurol Neurosurg Psychiatry Aug;87(8): doi: /jnnp Epub 2016 May 4. PMID: [PubMed - in process] 243. Heywood WE, Bliss E, Mills P, Yuzugulen J, Carreno G, Clayton PT, Muntoni F, Worthington VC, Torelli S, Sebire NJ, Mills K, Grunewald S. Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation. Mol Genet Metab Rep Apr 17;7: ecollection 2016 Jun. PMID: Bergsma A, Lobo-Prat J, Vroom E, Furlong P, Herder JL; Workshop Participants. 1st Workshop on Upper-Extremity Assistive Technology for People with Duchenne: State of the art, emerging avenues, and challenges: April 27th 2015, London, United Kingdom. Neuromuscul Disord Jun;26(6): doi: /j.nmd Epub 2016 Apr 8. No abstract available. PMID: Ricotti V, Spinty S, Roper H, Hughes I, Tejura B, Robinson N, Layton G, Davies K, Muntoni F, Tinsley J. Safety, Tolerability, and Pharmacokinetics of SMT C1100, a 2- Arylbenzoxazole Utrophin Modulator, following Single- and Multiple-Dose Administration to Pediatric Patients with Duchenne Muscular Dystrophy. PLoS One Apr 7;11(4):e doi: /journal.pone ecollection PMID: P a g e

89 [PubMed - in process] 246. Cornett KM, Menezes MP, Bray P, Halaki M, Shy RR, Yum SW, Estilow T, Moroni I, Foscan M, Pagliano E, Pareyson D, Laurá M, Bhandari T, Muntoni F, Reilly MM, Finkel RS, Sowden J, Eichinger KJ, Herrmann DN, Shy ME, Burns J; Inherited Neuropathies Consortium. Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease. JAMA Neurol Jun 1;73(6): doi: /jamaneurol PMID: [PubMed - in process] 247. Janghra N, Morgan JE, Sewry CA, Wilson FX, Davies KE, Muntoni F, Tinsley J.Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies. PLoS One Mar 14;11(3):e doi: /journal.pone ecollection PMID: *Scotton C, Bovolenta M, Schwartz E, Falzarano MS, Martoni E, Passarelli C, Armaroli A, Osman H, Rodolico C, Messina S, Pegoraro E, D'Amico A, Bertini E, Gualandi F, Neri M, Selvatici R, Boffi P, Maioli MA, Lochmüller H, Straub V, Bushby K, Castrignanò T, Pesole G, Sabatelli P, Merlini L, Braghetta P, Bonaldo P, Bernardi P, Foley R, Cirak S, Zaharieva I, Muntoni F, Capitanio D, Gelfi C, Kotelnikova E, Yuryev A, Lebowitz M, Zhang X, Hodge BA, Esser KA, Ferlini A. Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy. J Cell Sci Apr 15;129(8): doi: /jcs Epub 2016 Mar 4. PMID: Schoenmakers E, Carlson B, Agostini M, Moran C, Rajanayagam O, Bochukova E, Tobe R, Peat R, Gevers E, Muntoni F, Guicheney P, Schoenmakers N, Farooqi S, Lyons G, Hatfield D, Chatterjee K. Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis. J Clin Invest Mar 1;126(3): Epub 2016 Feb 8. PMID: *Meng J, Counsell JR, Reza M, Laval SH, Danos O, Thrasher A, Lochmüller H, Muntoni F, Morgan JE. Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy. Sci Rep Jan 27;6: doi: /srep PMID: Kate Bushby 251. Mayhew AG, Cano SJ, Scott E, Eagle M, Bushby K, Manzur A, Muntoni F; North Star Clinical Network for Neuromuscular Disease. Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Dev Med Child Neurol Nov;55(11): Epub 2013 Aug 5. PMID: Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L, Campbell C, Dai Y, Barišić N, Kos T, Brabec P, Rahbek J, Lahdetie J, Tuffery-Giraud S, Claustres M, Leturcq F, Ben Yaou R, Walter MC, Schreiber O, Karcagi V, Herczegfalvi A, Viswanathan V, Bayat F, de la Caridad Guerrero Sarmiento I, Ambrosini A, Ceradini F, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Oliveira J, Santos R, Neagu E, Butoianu N, Artemieva S, Rasic VM, Posada M, Palau F, Lindvall B, Bloetzer C, Karaduman A, Topaloğlu H, Inal S, Oflazer P, Stringer A, Shatillo AV, Martin AS, Peay H, Flanigan KM, Salgado D, von Rekowski B, Lynn S, Heslop E, Gainotti S, Taruscio D, Kirschner J, Verschuuren J, Bushby K, Béroud C, Lochmüller H. The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat Nov;34(11): Epub 2013 Aug 26. PMID: P a g e

90 253. Rodger S, Lochmüller H, Tassoni A, Gramsch K, König K, Bushby K, Straub V, Korinthenberg R, Kirschner J. The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases. Orphanet J Rare Dis Oct 23;8:171. PMID: Hollingsworth KG, Garrood P, Eagle M, Bushby K, Straub V. Magnetic resonance imaging in Duchenne muscular dystrophy: longitudinal assessment of natural history over 18 months. Muscle Nerve Oct;48(4): Epub 2013 Aug 30. PMID: Hollingsworth KG, Willis TA, Bates MG, Dixon BJ, Lochmüller H, Bushby K, Bourke J, MacGowan GA, Straub V. Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I. Eur J Heart Fail Sep;15(9): Epub 2013 Apr 10. PMID: Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Pénisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Gläser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H. ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. Hum Mutat Aug;34(8): Epub 2013 Jun 12. PMID: Mazzone E, Bianco F, Main M, van den Hauwe M, Ash M, de Vries R, Fagoaga Mata J, Stein S, De Sanctis R, D'Amico A, Palermo C, Fanelli L, Scoto MC, Mayhew A, Eagle M, Vigo M, Febrer A, Korinthenberg R, de Visser M, Bushby K, Muntoni F, Goemans N, Sormani MP, Bertini E, Pane M, Mercuri E. Six minute walk test in type III spinal muscular atrophy: a 12 month longitudinal study. Neuromuscul Disord Aug;23(8): Epub 2013 Jul 1. PMID: Griggs RC, Herr BE, Reha A, Elfring G, Atkinson L, Cwik V, McColl E, Tawil R, Pandya S, McDermott MP, Bushby K. Corticosteroids in Duchenne muscular dystrophy: major variations in practice. Muscle Nerve Jul;48(1): Epub 2013 Apr 25. PMID: Connolly AM, Florence JM, Cradock MM, Malkus EC, Schierbecker JR, Siener CA, Wulf CO, Anand P, Golumbek PT, Zaidman CM, Philip Miller J, Lowes LP, Alfano LN, Viollet-Callendret L, Flanigan KM, Mendell JR, McDonald CM, Goude E, Johnson L, Nicorici A, Karachunski PI, Day JW, Dalton JC, Farber JM, Buser KK, Darras BT, Kang PB, Riley SO, Shriber E, Parad R, Bushby K, Eagle M; MDA DMD Clinical Research Network. Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network. Neuromuscul Disord Jul;23(7): Epub 2013 May 28. PMID: Quinlivan R, Mitsuahashi S, Sewry C, Cirak S, Aoyama C, Mooore D, Abbs S, Robb S, Newton T, Moss C, Birchall D, Sugimoto H, Bushby K, Guglieri M, Muntoni F, Nishino I, Straub V. Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype. Neuromuscul Disord Jul;23(7): Epub 2013 May 18. PMID: P a g e

91 261. Henderson M, De Waele L, Hudson J, Eagle M, Sewry C, Marsh J, Charlton R, He L, Blakely EL, Horrocks I, Stewart W, Taylor RW, Longman C, Bushby K, Barresi R. Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities. Acta Neuropathol Jun;125(6): Epub 2013 Apr 11. PMID: Harris E, Laval S, Hudson J, Barresi R, De Waele L, Straub V, Lochmüller H, Bushby K, Sarkozy A. Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysis. PLoS Curr May 21;5. PMID: Garralda ME, McConachie H, Le Couteur A, Sriranjan S, Chakrabarti I, Cirak S, Guglieri M, Bushby K, Muntoni F. Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy. Child Care Health Dev May;39(3): Epub 2012 Jun 8. PMID: Hornsey MA, Laval SH, Barresi R, Lochmüller H, Bushby K. Muscular dystrophy in dysferlin-deficient mouse models. Neuromuscul Disord May;23(5): Epub 2013 Mar 7. Review. PMID: McCormack P, Woods S, Aartsma-Rus A, Hagger L, Herczegfalvi A, Heslop E, Irwin J, Kirschner J, Moeschen P, Muntoni F, Ouillade MC, Rahbek J, Rehmann-Sutter C, Rouault F, Sejersen T, Vroom E, Straub V, Bushby K, Ferlini A. Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational. PLoS Curr Jan 10;5. PMID: Wagner M, Chaouch A, Müller JS, Polvikoski T, Willis TA, Sarkozy A, Eagle M, Bushby K, Straub V, Lochmüller H. Presymptomatic late-onset Pompe disease identified by the dried blood spot test. Neuromuscul Disord Jan;23(1): Epub 2012 Oct 10. PMID: Zaharieva IT, Calissano M, Scoto M, Preston M, Cirak S, Feng L, Collins J, Kole R, Guglieri M, Straub V, Bushby K, Ferlini A, Morgan JE, Muntoni F. Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. PLoS One Nov 25;8(11):e ecollection PMID: Willis TA, Hollingsworth KG, Coombs A, Sveen ML, Andersen S, Stojkovic T, Eagle M, Mayhew A, de Sousa PL, Dewar L, Morrow JM, Sinclair CD, Thornton JS, Bushby K, Lochmüller H, Hanna MG, Hogrel JY, Carlier PG, Vissing J, Straub V. Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. PLoS One Aug 14;8(8):e ecollection PMID: Taruscio D, Gentile AE, De Santis M, Ferrelli RM, Posada de la Paz M, Hens M, Huizer J, Fregonese L, Stefanov R, Bottarelli V, Weinman A, Le Cam Y, Gavhed D, Mincarone P, Bushby K, Frazzica RG, Donati C, Vittozzi L, Jessop E. EUROPLAN: a project to support the development of national plans on rare diseases in Europe. Public Health Genomics. 2013;16(6): Epub 2014 Feb 3. PMID: Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer JB, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HC, Horvath R, Straub V, Bushby K, Lochmüller H, Chinnery PF, Sarkozy A. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry Mar;85(3): Epub 2013 Mar 13. PMID: P a g e

92 271. Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GV, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C, Lochmüller H. Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. J Neurol Jan;261(1): Epub 2013 Oct 27. PMID: Graham CD, Weinman J, Sadjadi R, Chalder T, Petty R, Hanna MG, Turner C, Parton M, Maddison P, Radunovic A, Longman C, Robb Y, Bushby K, Hilton-Jones D, Rose MR. A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle disease. Clin Rehabil May;28(5): Epub 2013 Nov 15. PMID: Hicks D, Farsani GT, Laval S, Collins J, Sarkozy A, Martoni E, Shah A, Zou Y, Koch M, Bönnemann CG, Roberts M, Lochmüller H, Bushby K, Straub V. Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. Hum Mol Genet May 1;23(9): Epub 2013 Dec13. PMID: Lochmüller H, Bushby K. Becker and Duchenne muscular dystrophy: a two-way information process for therapies. J Neurol Neurosurg Psychiatry Jan;85(1):5-6. Epub 2013 May 21. PMID: Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, De Grassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Müller JS, Evangelista T, Töpf A, Abicht A, Huebner A, von der Hagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmüller H. Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. J Neuromuscul Dis. 2014;1(1): PMID: Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Janghra N, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F. Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping. JAMA Neurol Jan;71(1): PMID: Willis TA, Hollingsworth KG, Coombs A, Sveen ML, Andersen S, Stojkovic T, Eagle M, Mayhew A, de Sousa PL, Dewar L, Morrow JM, Sinclair CD, Thornton JS, Bushby K, Lochmuller H, Hanna MG, Hogrel JY, Carlier PG, Vissing J, Straub V. Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study. PLoS One Feb 28;9(2):e ecollection PMID: Bushby KM, Collins J, Hicks D. Collagen type VI myopathies. Adv Exp Med Biol. 2014;802: Review. PMID: Taruscio D, Gentile AE, Evangelista T, Frazzica RG, Bushby K, Montserrat AM. Centres of Expertise and European Reference Networks: key issues in the field of 28 P a g e

93 rare diseases. The EUCERD Recommendations. Blood Transfus Apr;12 Suppl 3:s PMID: Mazzone E, De Sanctis R, Fanelli L, Bianco F, Main M, van den Hauwe M, Ash M, de Vries R, Fagoaga Mata J, Schaefer K, D'Amico A, Colia G, Palermo C, Scoto M, Mayhew A, Eagle M, Servais L, Vigo M, Febrer A, Korinthenberg R, Jeukens M, de Viesser M, Totoescu A, Voit T, Bushby K, Muntoni F, Goemans N, Bertini E, Pane M, Mercuri E. Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients. Neuromuscul Disord Apr;24(4): Epub 2014 Jan 16. PMID: Lynn S, Aartsma-Rus A, Bushby K, Furlong P, Goemans N, De Luca A, Mayhew A, McDonald C, Mercuri E, Muntoni F, Pohlschmidt M, Verschuuren J, Voit T, Vroom E, Wells DJ, Straub V. Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy. Neuromuscul Disord Jan;25(1): Epub 2014 Sep 11. PMID: van Ruiten HJ, Straub V, Bushby K, Guglieri M. Improving recognition of Duchenne muscular dystrophy: a retrospective case note review. Arch Dis Child Dec;99(12): Epub 2014 Sep 3. PMID: Chaouch A, Brennan KM, Hudson J, Longman C, McConville J, Morrison PJ, Farrugia ME, Petty R, Stewart W, Norwood F, Horvath R, Chinnery PF, Costigan D, Winer J, Polvikoski T, Healy E, Sarkozy A, Evangelista T, Pogoryelova O, Eagle M, Bushby K, Straub V, Lochmüller H. Two recurrent mutations are associated with GNE myopathy in the North of Britain. J Neurol Neurosurg Psychiatry Dec;85(12): Epub 2014 Apr 2. PMID: Haberlova J, Mitrović Z, Zarković K, Lovrić D, Barić V, Berlengi L, Bilić K, Fumić K, Kranz K, Huebner A, von der Hagen M, Barresi R, Bushby K, Straub V, Barić I, Lochmüller H. Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy. Neuromuscul Disord Nov;24(11): Epub 2014 Jul 3. PMID: Aartsma-Rus A, Ferlini A, Goemans N, Pasmooij AM, Wells DJ, Bushby K, Vroom E, Balabanov P. Translational and regulatory challenges for exon skipping therapies. Hum Gene Ther Oct;25(10): Review. PMID: Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP. Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve Oct;50(4): PMID: Landfeldt E, Lindgren P, Bell CF, Schmitt C, Guglieri M, Straub V, Lochmüller H, Bushby K. The burden of Duchenne muscular dystrophy: an international, cross-sectional study. Neurology Aug 5;83(6): Epub 2014 Jul 2. PMID: Thompson R, Johnston L, Taruscio D, Monaco L, Béroud C, Gut IG, Hansson MG, 't Hoen PB, Patrinos GP, Dawkins H, Ensini M, Zatloukal K, Koubi D, Heslop E, Paschall JE, Posada M, Robinson PN, Bushby K, Lochmüller H. RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical 29 P a g e

94 bioinformatics for rare disease research. J Gen Intern Med Aug;29 Suppl 3:S Review. PMID: Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG. Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Hum Mutat Jul;35(7): Epub 2014 May 21. PMID: Ayoglu B, Chaouch A, Lochmüller H, Politano L, Bertini E, Spitali P, Hiller M, Niks EH, Gualandi F, Pontén F, Bushby K, Aartsma-Rus A, Schwartz E, Le Priol Y, Straub V, Uhlén M, Cirak S, 't Hoen PA, Muntoni F, Ferlini A, Schwenk JM, Nilsson P, Al-Khalili Szigyarto C. Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies. EMBO Mol Med Jun 11;6(7): PMID: Evangelista T, van Engelen B, Bushby K. 200th ENMC International Workshop "European reference networks: recommendations and criteria in the neuromuscular field", October 2013, Naarden, The Netherlands. Neuromuscul Disord Jun;24(6): Epub 2014 Mar 15. PMID: Connolly AM, Florence JM, Cradock MM, Eagle M, Flanigan KM, McDonald CM, Karachunski PI, Darras BT, Bushby K, Malkus EC, Golumbek PT, Zaidman CM, Miller JP, Mendell JR; MDA DMD Clinical Research Network. One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development. Pediatr Neurol Jun;50(6): Epub 2014 Feb 15. PMID: Barresi R, Morris C, Hudson J, Curtis E, Pickthall C, Bushby K, Davies NP, Straub V. Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G. Neuromuscul Disord Apr;25(4): Epub 2014 Dec 24. PMID: van den Bergen JC, Hiller M, Böhringer S, Vijfhuizen L, Ginjaar HB, Chaouch A, Bushby K, Straub V, Scoto M, Cirak S, Humbertclaude V, Claustres M, Scotton C, Passarelli C, Lochmüller H, Muntoni F, Tuffery-Giraud S, Ferlini A, Aartsma-Rus AM, Verschuuren JJ, 't Hoen PA, Spitali P. Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants. J Neurol Neurosurg Psychiatry Oct;86(10): Epub 2014 Dec 4. PMID: Burch PM, Pogoryelova O, Goldstein R, Bennett D, Guglieri M, Straub V, Bushby K, Lochmüller H, Morris C. Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy. J Neuromuscul Dis Sep 2;2(3): PMID: Belaya K, Rodríguez Cruz PM, Liu WW, Maxwell S, McGowan S, Farrugia ME, Petty R, Walls TJ, Sedghi M, Basiri K, Yue WW, Sarkozy A, Bertoli M, Pitt M, Kennett R, Schaefer A, Bushby K, Parton M, Lochmüller H, Palace J, Muntoni F, Beeson D. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain Sep;138(Pt 9): Epub 2015 Jun 30. PMID: Rahbek J, Steffensen BF, Bushby K, de Groot IJ. 206th ENMC International 30 P a g e

95 Workshop: Care for a novel group of patients - adults with Duchenne muscular dystrophy Naarden, The Netherlands, May Neuromuscul Disord Sep;25(9): Epub 2015 May 27. PMID: Wood CL, Straub V, Guglieri M, Bushby K, Cheetham T. Short stature and pubertal delay in Duchenne muscular dystrophy. Arch Dis Child Jan;101(1): Epub 2015 Jul 3. Review. PMID: Landfeldt E, Mayhew A, Eagle M, Lindgren P, Bell CF, Guglieri M, Straub V, Lochmüller H, Bushby K. Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT). Neuromuscul Disord Dec;25(12): Epub 2015 Sep 26.Erratum in: Neuromuscul Disord Apr-May;26(4-5):329. PMID: Kinnett K, Rodger S, Vroom E, Furlong P, Aartsma-Rus A, Bushby K. Imperatives for DUCHENNE MD: a Simplified Guide to Comprehensive Care for Duchenne Muscular Dystrophy. PLoS Curr Aug 7;7. PMID: Evangelista T, Bansagi B, Pyle A, Griffin H, Douroudis K, Polvikoski T, Antoniadi T, Bushby K, Straub V, Chinnery PF, Lochmüller H, Horvath R. Phenotypic variability of TRPV4 related neuropathies. Neuromuscul Disord Jun;25(6): Epub 2015 Mar 18. PMID: Heslop E, Csimma C, Straub V, McCall J, Nagaraju K, Wagner KR, Caizergues D, Korinthenberg R, Flanigan KM, Kaufmann P, McNeil E, Mendell J, Hesterlee S, Wells DJ, Bushby K; TACT. The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development. Orphanet J Rare Dis Apr 23;10:49. Review. PMID: Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H. The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat Apr;36(4): Epub 2015 Mar 17. PMID: Rodger S, Woods KL, Bladen CL, Stringer A, Vry J, Gramsch K, Kirschner J, Thompson R, Bushby K, Lochmüller H. Adult care for Duchenne muscular dystrophy in the UK. J Neurol Mar;262(3): Epub 2014 Dec 24. PMID: Landfeldt E, Lindgren P, Bell CF, Schmitt C, Guglieri M, Straub V, Lochmüller H, Bushby K. Compliance to Care Guidelines for Duchenne Muscular Dystrophy. J Neuromuscul Dis. 2015;2(1): PMID: Wood CL, Cheetham TD, Guglieri M, Bushby K, Owen C, Johnstone H, Straub V. Testosterone Treatment of Pubertal Delay in Duchenne Muscular Dystrophy. Neuropediatrics Dec;46(6): Epub 2015 Sep 26. PMID: Palmio J, Jonson PH, Evilä A, Auranen M, Straub V, Bushby K, Sarkozy A, 31 P a g e

96 Kiuru-Enari S, Sandell S, Pihko H, Hackman P, Udd B. Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease. Neuromuscul Disord Nov;25(11): Epub 2015 Jul 27. PMID: Palmio J, Evilä A, Bashir A, Norwood F, Viitaniemi K, Vihola A, Huovinen S, Straub V, Hackman P, Hirano M, Bushby K, Udd B. Re-evaluation of the phenotype caused by the common MATR3 p.ser85cys mutation in a new family. J Neurol Neurosurg Psychiatry Apr;87(4): Epub 2015 May 7. PMID: Landfeldt E, Lindgren P, Bell CF, Guglieri M, Straub V, Lochmüller H, Bushby K. Health-related quality of life in patients with Duchenne muscular dystrophy: a multinational, cross-sectional study. Dev Med Child Neurol May;58(5): Epub 2015 Oct 19. PMID: Figueroa-Bonaparte S, Hudson J, Barresi R, Polvikoski T, Williams T, Töpf A, Harris E, Hilton-Jones D, Petty R, Willis TA, Longman C, Dougan CF, Parton MJ, Hanna MG, Quinlivan R, Farrugia ME, Guglieri M, Bushby K, Straub V, Lochmüller H, Evangelista T. Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK. J Neurol Neurosurg Psychiatry Jun;87(6): Epub 2015 Jun 23. PMID: Willis TA, Wood CL, Hudson J, Polvikoski T, Barresi R, Lochmüller H, Bushby K, Straub V. Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion. Clin Genet Aug;90(2): Epub 2016 Jan 8. PMID: Harris E, Bladen CL, Mayhew A, James M, Bettinson K, Moore U, Smith FE, Rufibach L, Cnaan A, Bharucha-Goebel DX, Blamire AM, Bravver E, Carlier PG, Day JW, Díaz-Manera J, Eagle M, Grieben U, Harms M, Jones KJ, Lochmüller H, Mendell JR, Mori-Yoshimura M, Paradas C, Pegoraro E, Pestronk A, Salort-Campana E, Schreiber-Katz O, Semplicini C, Spuler S, Stojkovic T, Straub V, Takeda S, Rocha CT, Walter MC, Bushby K; Jain COS Consortium. The Clinical Outcome Study for dysferlinopathy: An international multicenter study. Neurol Genet Aug 4;2(4):e89. ecollection 2016 Aug. PMID: Scalco RS, Gardiner AR, Pitceathly RD, Hilton-Jones D, Schapira AH, Turner C, Parton M, Desikan M, Barresi R, Marsh J, Manzur AY, Childs AM, Feng L, Murphy E, Lamont PJ, Ravenscroft G, Wallefeld W, Davis MR, Laing NG, Holton JL, Fialho D, Bushby K, Hanna MG, Phadke R, Jungbluth H, Houlden H, Quinlivan R. CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies. Neuromuscul Disord Aug;26(8): Epub 2016 May 11. PMID: Van Ruiten HJ, Marini Bettolo C, Cheetham T, Eagle M, Lochmuller H, Straub V, Bushby K, Guglieri M. Why are some patients with Duchenne muscular dystrophy dying young: An analysis of causes of death in North East England. Eur J Paediatr Neurol Jul 30. [Epub ahead of print] PMID: Mitzelfelt KA, Limphong P, Choi MJ, Kondrat FD, Lai S, Kolander KD, Kwok WM, Dai Q, Grzybowski MN, Zhang H, Taylor GM, Lui Q, Thao MT, Hudson JA, Barresi R, Bushby K, Jungbluth H, Wraige E, Geurts AM, Benesch JL, Riedel M, Christians ES, Minella AC, Benjamin IJ. The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility. J Biol Chem Jul 15;291(29): Epub 2016 May 19. PMID: Pohjola P, Hedley V, Bushby K, Kääriäinen H. Challenges raised by cross-border 32 P a g e

97 testing of rare diseases in the European union. Eur J Hum Genet Jul 6. Epub ahead of print] PMID: Straub V, Balabanov P, Bushby K, Ensini M, Goemans N, De Luca A, Pereda A, Hemmings R, Campion G, Kaye E, Arechavala-Gomeza V, Goyenvalle A, Niks E, Veldhuizen O, Furlong P, Stoyanova-Beninska V, Wood MJ, Johnson A, Mercuri E, Muntoni F, Sepodes B, Haas M, Vroom E, Aartsma-Rus A. Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy. Lancet Neurol Jul;15(8): Review. PMID: Srinivasan R, Rawlings D, Wood CL, Cheetham T, Moreno AC, Mayhew A, Eagle M, Guglieri M, Straub V, Owen C, Bushby K, Sarkozy A. Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy. Muscle Nerve Jun;54(1): Epub 2016 Apr 27. PMID: Landfeldt E, Lindgren P, Bell CF, Guglieri M, Straub V, Lochmüller H, Bushby K. Quantifying the burden of caregiving in Duchenne muscular dystrophy. J Neurol May;263(5): Epub 2016 Mar 10. PMID: Scotton C, Bovolenta M, Schwartz E, Falzarano MS, Martoni E, Passarelli C, Armaroli A, Osman H, Rodolico C, Messina S, Pegoraro E, D'Amico A, Bertini E, Gualandi F, Neri M, Selvatici R, Boffi P, Maioli MA, Lochmüller H, Straub V, Bushby K, Castrignanò T, Pesole G, Sabatelli P, Merlini L, Braghetta P, Bonaldo P, Bernardi P, Foley R, Cirak S, Zaharieva I, Muntoni F, Capitanio D, Gelfi C, Kotelnikova E, Yuryev A, Lebowitz M, Zhang X, Hodge BA, Esser KA, Ferlini A. Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy. J Cell Sci Apr 15;129(8): Epub 2016 Mar 4. PMID: Landfeldt E, Mayhew A, Eagle M, Lindgren P, Bell CF, Guglieri M, Straub V, Lochmüller H, Bushby K. Corrigendum to "Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT)" [Neuromuscular Disorders 25 (2015) ]. Neuromuscul Disord Apr-May;26(4-5):329. Epub 2016 Mar 14. PMID: Aartsma-Rus A, Ginjaar IB, Bushby K. The importance of genetic diagnosis for Duchenne muscular dystrophy. J Med Genet Mar;53(3): Epub 2016 Jan 11. Review. PMID: Evangelista T, Hedley V, Atalaia A, Johnson M, Lynn S, Le Cam Y, Bushby K. The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks. Orphanet J Rare Dis Feb 24;11:17. PMID: Doug Turnbull 325. Alston CL, Schaefer AM, Raman P, Solaroli N, Krishnan KJ, Blakely EL, He L, Craig K, Roberts M, Nixon J, Horvat R, Turnbull DM, Karlsson A, Gorman GS, Taylor RW. Lateonset respiratory failure due to TK2 mutations causing multiple mtdna deletions. Neurology 81(23) Dec PMID: Spendiff S. Reza M. Murphy JL. Gorman G. Blakely EL. Taylor RW. Horvath R. Campbell G. Newman J. Lochmüller H. Turnbull DM. Mitochondrial DNA deletions in 33 P a g e

98 muscle satellite cells: implications for therapies. Human Molecular Genetics 22(23) Dec 2013 PMID: Yu-Wai-Man C. Smith FE. Firbank MJ. Guthrie G. Guthrie S. Gorman GS. Taylor RW. Turnbull DM. Griffiths PG. Blamire AM. Chinnery PF. Yu-Wai-Man P. Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia. PLoS One 8(9): e PMID: Picard M. Gentil BJ. McManus MJ. White K. St Louis K. Gartside SE. Wallace DC. Turnbull DM. Acute exercise remodels mitochondrial membrane interactions in mouse skeletal muscle. Journal of Applied Physiology. 115(10): Nov 2013 PMID: Schaefer AM, Walker M, Turnbull DM, Taylor RW. Endocrine disorders in mitochondrial disease. Molecular and Cellular Endocrinology 379 (1-2) 2-11 Oct PMID: Bates MG. Newman JH. Jakovljevic DG. Hollingsworth KG. Alston CL. Zalewski P. Klawe JJ. Blamire AM. MacGowan GA. Keavney BD. Bourke JP. Schaefer A. McFarland R. Newton JL. Turnbull DM. Taylor RW. Trenell MI. Gorman GS. Defining cardiac adaptations and safety of endurance training in patients with m.3243a>g-related mitochondrial disease. International Journal of Cardiology 168(4) Oct 2013 PMID: Pfeffer G, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S, Hirano M, Zeviani M, Bindoff LA, Yu-Wai-Man P, Hanna M, Carelli V, McFarland R, Majamaa K, Turnbull DM, Smeitink J, Chinnery PF. New treatments for mitochondrial disease-no time to drop our standards. [Review]. Nature Reviews Neurology Aug PMID: G R Campbell, A Reeve, I Ziabreva, T M Polvikoski, R W Taylor, R Reynolds, D M Turnbull, D J Mahad. Mitochondrial DNA deletions and depletion within paraspinal muscles. Neuropathology and applied neurobiology Jun PMID: Emma L Blakely, John W Yarham, Charlotte L Alston, Kate Craig, Joanna Poulton, Charlotte Brierley, Soo-Mi Park, Andrew Dean, John H Xuereb, Kirstie N Anderson, Alistair Compston, Chris Allen, Saba Sharif, Peter Enevoldson, Martin Wilson, Simon R Hammans, Douglass M Turnbull, Robert McFarland, Robert W Taylor. Pathogenic mitochondrial trna point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease. Human mutation. May PMID: JL Elson, M Cadogan, S Apabhai, RG Whittaker, A Phillips, MI Trennell, R Horvath, RW Taylor, R McFarland, E McColl, DM Turnbull, G S Gorman. Initial development and validation of a mitochondrial disease quality of life scale. Neuromuscular disorders: NMD Apr PMID: Roger G Whittaker, Elizabeth Hall, Muhammad K Mansoor, Robert W Taylor, Douglass M Turnbull. Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease. Journal of the peripheral nervous system. JPNS Mar PMID: Picard M, Turnbull D. Linking the metabolic state and mitochondrial DNA in chronic disease, health, and aging. Diabetes Mar PMID: Nichola Z Lax, Sharmilee Gnanapavan, Sarah J Dowson, Charlotte L Alston, Langping He, Tuomo M Polvikoski, Evelyn Jaros, Dominic G O'Donovan, John W Yarham, Douglass 34 P a g e

99 M Turnbull, Andrew F Dean, Robert W Taylor. Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial trnaglu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study. Journal of neuropathology and experimental neurology Feb PMID: John W Yarham, Emma L Blakely, Charlotte L Alston, Mark E Roberts, John Ealing, Piyali Pal, Douglass M Turnbull, Robert McFarland, Robert W Taylor. The m.3291t>c mt-trna(leu(uur)) mutation is definitely pathogenic and causes multisystem mitochondrial disease. Journal of the neurological sciences Feb PMID: Grady JP, Murphy JL, Blakely EL, Haller RG, Taylor RW, Turnbull DM, Tuppen HA. Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle. PLoS One Dec 4;9(12):e PMID: Nesbitt V, Alston CL, Blakely EL, Fratter C, Feeney CL, Poulton J, Brown GK, Turnbull DM, Taylor RW, McFarland R. A national perspective on prenatal testing for mitochondrial disease. Eur J Hum Genet Nov;22(11): PMID: Greaves LC, Nooteboom M, Elson JL, Tuppen HA, Taylor GA, Commane DM, Arasaradnam RP, Khrapko K, Taylor RW, Kirkwood TB, Mathers JC, Turnbull DM. Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing. PLoS Genet Sep 18;10(9):e PMID: Rygiel KA, Grady JP, Turnbull DM. Respiratory chain deficiency in aged spinal motor neurons. Neurobiol Aging Oct;35(10): PMID: Campbell G, Krishnan KJ, Deschauer M, Taylor RW, Turnbull DM. Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle. Hum Mol Genet Sep 1;23(17): PMID: Rygiel KA, Miller J, Grady JP, Rocha MC, Taylor RW, Turnbull DM. Mitochondrial and inflammatory changes in sporadic inclusion body myositis. Neuropathol Appl Neurobiol Apr;41(3): PMID: Blakely EL, Alston CL, Lecky B, Chakrabarti B, Falkous G, Turnbull DM, Taylor RW, Gorman GS. Distal weakness with respiratory insufficiency caused by the m.8344a > G "MERRF" mutation. Neuromuscul Disord Jun;24(6): PMID: Grünewald A, Lax NZ, Rocha MC, Reeve AK, Hepplewhite PD, Rygiel KA, Taylor RW, Turnbull DM. Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue. J Neurosci Methods Jul 30;232: PMID: Baines HL, Stewart JB, Stamp C, Zupanic A, Kirkwood TB, Larsson NG, Turnbull DM, Greaves LC. Similar patterns of clonally expanded somatic mtdna mutations in the colon of heterozygous mtdna mutator mice and ageing humans. Mech Ageing Dev Jul;139: PMID: Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski- Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF. Use of wholeexome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA Jul 2;312(1): PMID: P a g e

100 349. Pfeffer G. Gorman GS. Griffin H. Kurzawa-Akanbi M. Blakely EL. Wilson I. Sitarz K. Moore D. Murphy JL. Alston CL. Pyle A. Coxhead J. Payne B. Gorrie GH. Longman C. Hadjivassiliou M. McConville J. Dick D. Imam I. Hilton D. Norwood F. Baker MR. Jaiser SR. Yu-Wai-Man P. Farrell M. McCarthy A. Lynch T. McFarland R. Schaefer AM. Turnbull DM. Horvath R. Taylor RW. Chinnery PF. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance Brain (5) May-14. PMID: Chinnery PF, Craven L, Mitalipov S, Stewart JB, Herbert M, Turnbull DM. The challenges of mitochondrial replacement PLoS Genetics (4) e Apr-14 PMID: Baines HL, Turnbull DM, Greaves LC. Human stem cell ageing: do mitochondrial DNA mutations have a causal role? Aging Cell (2) Apr-14. PMID: Galna B. Newman J. Jakovljevic DG. Bates MG. Schaefer AM. McFarland R. Turnbull DM. Trenell MI. Gorman GS. Rochester L. Discrete gait characteristics are associated with m.3243a>g and m.8344a>g variants of mitochondrial disease and its pathological consequences. Journal of Neurology (1) Jan-14. PMID: Campbell G, Krishnan KJ, Deschauer M, Taylor RW, Turnbull DM. Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle. Human Molecular Genetics PMID: Nesbitt V, Alston CL, Blakely EL, Fratter C, Feeney CL, Poulton J, Brown GK, Turnbull DM, Taylor RW, McFarland R. A national perspective on prenatal testing for mitochondrial disease. European Journal of Human Genetics Nov, 22(11):: PMID: Blakely EL, Alston CL, Lecky B, Falkous G, Turnbull DM, Taylor RW, Gorman GS distal weakness with respiratory insufficiency caused by the m.8344a>g "MERFF" mutation. Neuromuscular Disorders 24, PMID: Gorman GS, Pfeffer G, Griffin HR, Blakely EL, Kurzawa-Akanbi M, Gabriel J, Sitarz K, Roberts M, Schoser B, Pyle A, Schaefer AM, McFarland R, Turnbull DM, Horvath R, Chinnery PF, Taylor RW. Clonal expansion of secondary mtdna deletions associated with spinocerebellar ataxia type 28. JAMA Neurology PMID: Grady JP, Campbell G, Ratnaike T, Blakely EL, Falkous G, Nesbitt V, Schaefer AM, McNally RJ, Gorman GS, Taylor RW, Turnbull DM, McFarland R. Disease progression in patients with isngle, large-scale mitochondrial DNA deletions. Brain (2) Feb. PMID: Greggains GD. Lister LM. Tuppen HA. Zhang Q. Needham LH. Prathalingam N. Hyslop LA. Craven L. Polanski Z. Murdoch AP. Turnbull DM. Herbert M. Therapeutic potential of somatic cell nuclear transfer for degenerative disease caused by mitochondrial DNA mutations. Science Reporter 4, PMID: *Hall AM, Vilasi A, Garcia-Perez I, Lapsley M, Alston CL, Pitceathly RD, McFarland R, Schaefer AM, Turnbull DM, Beaumont NJ, Hsuan JJ, Cutillas PR, Lindon JC, Holmes E, Unwin RJ, Taylor RW, Gorman GS, Rahman S, Hanna MG. The urinary proteome and metabonome differ from normal in adults with mitochondrial disease. Kidney Int Mar;87(3): PMID: P a g e

101 360. Richardson J, Irving L, Hyslop LA, Choudhary M, Murdoch A, Turnbull DM, Herbert M. Concise reviews: Assisted reproductive technologies to prevent transmission of mitochondrial DNA disease. Stem Cells Mar;33(3): PMID: Gorman GS, Pfeffer G, Griffin H, Blakely EL, Kurzawa-Akanbi M, Gabriel J, Sitarz K, Roberts M, Schoser B, Pyle A, Schaefer AM, McFarland R, Turnbull DM, Horvath R, Chinnery PF, Taylor RW. Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28. JAMA Neurol Jan;72(1): PMID: Gorman GS, Blakely EL, Hornig-Do HT, Tuppen HA, Greaves LC, He L, Baker A, Falkous G, Newman J, Trenell MI, Lecky B, Petty RK, Turnbull DM, McFarland R, Taylor RW. Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression. Clin Sci (Lond) Jun;128(12): PMID: Gorman GS, Grady JP, Ng Y, Schaefer AM, McNally RJ, Chinnery PF, Yu-Wai-Man P, Herbert M, Taylor RW, McFarland R, Turnbull DM. Mitochondrial donation--how many women could benefit? N Engl J Med Feb 26;372(9): PMID: Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, Feeney C, Horvath R, Yu-Wai-Man P, Chinnery PF, Taylor RW, Turnbull DM, McFarland R. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol May;77(5): PMID: Turnbull DM, Rustin P. Genetic and biochemical intricacy shapes mitochondrial cytopathies. Neurobiol Dis Feb 12. PMID: Lax NZ, Grady J, Laude A, Chan F, Hepplewhite PD, Gorman G, Whittaker RG, Ng Y, Cunningham MO, Turnbull DM. Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease. Neuropathol Appl Neurobiol Mar 18. PMID: Stoll EA, Makin R, Sweet IR, Trevelyan AJ, Miwa S, Horner PJ, Turnbull DM. Neural Stem Cells in the Adult Subventricular Zone Oxidize Fatty Acids to Produce Energy and Support Neurogenic Activity. Stem Cells Jul;33(7): PMID: Rygiel KA, Grady JP, Taylor RW, Tuppen HA, Turnbull DM. Triplex real-time PCR--an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells. Sci Rep May 19;5:9906 PMID: Gorman GS, Elson JL, Newman J, Payne B, McFarland R, Newton JL, Turnbull DM. Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease. Neuromuscul Disord Jul;25(7): PMID: Reeve AK, Ludtmann MH, Angelova PR, Simcox EM, Horrocks MH, Klenerman D, Gandhi S, Turnbull DM, Abramov AY. Aggregated α-synuclein and complex I deficiency: exploration of their relationship in differentiated neurons. Cell Death Dis Jul 16;6:e1820. PMID: Ng YS, Grady JP, Lax NZ, Bourke JP, Alston CL, Hardy SA, Falkous G, Schaefer AG, Radunovic A, Mohiddin SA, Ralph M, Alhakim A, Taylor RW, McFarland R, Turnbull DM, Gorman GS. Sudden adult death syndrome in m.3243a>g-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults. Eur Heart J Jul 17. PMID: P a g e

102 372. Rygiel KA, Miller J, Grady JP, Rocha MC, Taylor RW, Turnbull DM. Mitochondrial and inflammatory changes in sporadic Inclusion Body Myositis. Neuropathology and Applied Neurobiology Apr;41(3): PMID: Lax NZ, Grady J, Laude A, Chan F, Hepplewhite PD, Gorman G, Whittaker RG, Ng Y, Cunningham MO, Turnbull DM. Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease. Neuropathology and Applied Neurobiology 2016, 42(2), PMID: Ng YS, Turnbull DM. Mitochondrial disease: genetics and management. Journal of Neurology 2016, 263(1), PMID: Chan F, Lax NZ, Davies CH, Turnbull DM, Cunningham MO. Neuronal oscillations: a physiological correlate for targeting mitochondrial dysfunction in neurodegenerative diseases?. Neuropharmacology 2016, 102, PMID: Craven L, Herbert M, Murdoch A, Murphy J, Davies JL, Turnbull DM. Research into Policy: A Brief History of Mitochondrial Donation. Stem Cells 2016, 34(2), PMID: Rygiel KA, Picard M, Turnbull DM. The ageing neuromuscular system and sarcopenia - A mitochondrial perspective. The Journal of Physiology PMID: Phillips J, Laude A, Lightowlers R, Morris CM, Turnbull DM, Lax NZ. Development of passive CLARITY and immunofluorescent labelling of multiple proteins in human cerebellum: understanding mechanisms of neurodegeneration in mitochondrial disease. Sci Rep May 16;6: PMID: Rygiel KA, Tuppen HA, Grady JP, Vincent A, Blakely EL, Reeve AK, Taylor RW, Picard M, Miller J, Turnbull DM. Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis. Nucleic Acids Res Apr 30. [Epub ahead of print] PMID: Martikainen MH, Ng YS, Gorman GS, Alston CL, Blakely EL, Schaefer AM, Chinnery PF, Burn DJ, Taylor RW, McFarland R, Turnbull DM. Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. JAMA Neurol Apr 25. [Epub ahead of print] PMID: Russell OM, Lightowlers RN, Turnbull DM. Applying the Airbrakes: Treating Mitochondrial Disease with Hypoxia. Mol Cell Apr 7;62(1):5-6. PMID: Chris Clark 382. The Sensitivity of the diffusion-weighted MRI signal decay curve to microstructural changes due to Duchenne Muscular Dystrophy Matt G Hall and Chris A Clark Proceedings of the Ninth UK Neuromuscular Translational Research Conference (2016), P "Fractional diffusion as a probe of microstructural change in a mouse model of Duchenne Muscular Dystrophy Matt G Hall, Paola Porcari, Andrew Blamire, and Chris A Clark Proceedings of the Ninth UK Neuromuscular Translational Research Conference (2016), P26 38 P a g e

103 384. "Fractional diffusion as a probe of microstructural change in a mouse model of Duchenne Muscular Dystrophy" Matt G Hall, Paola Porcari, Andrew Blamire, and Chris A Clark Proceedings of the 16th Annual Meeting of the International Society for Magnetic Resonance in Medicine, Singapore (2016), "Diffusion in Hierarchical systems: a simulation study in healthy and diseased muscle tissue" Matt G Hall and Chris A Clark Magnetic Resonance in Medicine (submitted) Giulio Cossu 386. Godi C, Ambrosi A, Nicastro MF, Previtali SC, Santarosa C, Napolitano S, Natali Sora MG, Tettamanti A, Gerevini S, Cicalese MP, Sitzia C, Venturini M, Falini A, Gatti R, Ciceri F, Cossu G, Torrente Y, Politi LS MRI Longitudinal Quantification of Muscle Degeneration in Duchenne Muscular Dystrophy. Annals of Clinical and Translational Neurology. In press Serena E, Zatti S, Zoso A, Lo Verso F, Tedesco FS, Cossu G, Elvassore N Skeletal muscle differentiation on a chip shows human donor mesoangioblasts efficiency in restoring dystrophin in a DMD model. Stem Cell Transl. Med. Aug 8. [Epub ahead of print] PMID: Sacchetti B, Funari A, Remoli C, Giannicola G, Kogler G, Liedtke S, Cossu G, Serafini M, Sampaolesi M, Tagliafico E, Tenedini I, Saggio I, Robey PG, Riminucci M, Bianco P No identical mesenchymal stem cells at different times and sites: human committed progenitors of distinct origin and differentiation potential are incorporated as adventitial cells in microvessels. Stem Cell Rep. 6, PMID: Cossu G, Buccione R, De Luca M A discussion on cell therapy in Manchester. Stem Cell Rep. 16, PMID: Rossi G, Antonini S, Bonfanti C, Monteverde S, Tajbakhsh S, Cossu G, Messina G Nfix regulates temporal progression of muscle regeneration through modulation of Myostatin expression. Cell Reports 14, PMID: Cossu G, Previtali SC, Napolitano S, Cicalese MP, Tedesco FS, Nicastro F, Noviello M, Roostalu U, Natali Sora MG, Scarlato M, De Pellegrin M, Godi C, Giuliani S, Ciotti F, Tonlorenzi R, Lorenzetti I, Rivellini C, Benedetti S, Gatti R, Marktel S, Mazzi B, Tettamanti A, Ragazzi M, Imro MA, Marano G, Ambrosi A, Fiori R, Sormani MP, Bonini C, Venturini M, Politi LS, Torrente Y, Ciceri, F Intra-arterial transplantation of HLA-matched donor mesoangioblasts in Duchenne Muscular Dystrophy. EMBO Mol. Med. 7, PMID: Fuoco C, Rizzi R, Biondo A, Longa E, Mascaro A, Shapira-Schweitzer K, Kossovar O, Benedetti S, Salvatori ML, Santoleri S, Testa S, Bernardini S, Bottinelli R, Bearzi C, Cannata SM, Seliktar D, Cossu G, Gargioli C In vivo generation of a mature and functional artificial skeletal muscle. PMID: Bonfanti C, Rossi G, Tedesco FS, Giannotta M, Benedetti S, Tonlorenzi R, Antonini S, Marazzi G, Dejana E, Sassoon D, Cossu G, Messina G PW1/Peg3 expression regulates the key properties determining mesoangioblast stem cell competence. Nature Comm. 6: *Di Foggia V, Zhang X, Licastro D, Gerli M, Padkhe R, Muntoni F, Mourikis P, Tajbakhsk S, Ellis M, Greaves L, Taylor R, Cossu G, Robson L, Marino S Bm1 39 P a g e

104 enhances skeletal muscle regeneration through MT1 mediated oxidative stress protection in a mouse model of dystrophinopathy. J. Exp. Med. 211: PMID: Noviello M, Tedesco FS, Bondanza A, Tonlorenzi R, Carbone MR, Gerli M, Marktel S, Napolitano S, Cicalese MP, Ciceri F, Peretti G, Cossu G, Bonini C Inflammation converts human mesoangioblasts into targets of alloreactive immune responses: implications for allogeneic cell therapy of DMD. Mol. Ther. 22: PMID: Azzoni E, Conti V, Dellavalle A, Campana L, Adams RH, Cossu G, Brunelli S Mouse yolk sac VE-Cadherin+ cells generate mesodermal multipotent progenitors that physiologically contribute to several lineages in the embryo and in the growing and regenerating skeletal muscle. Development 141: Narayanan G, Cossu G, Galli MC, Flory E, Ovelgonne H, Salmikangas P, Schneider CK, Trouvin JH 2014 Clinical development of gene therapy needs a tailored approach: a regulatory perspective from the EU. Human Gene Ther. Clin. Dev. 25:1-6. PMID: Giannotta M, Benedetti S, Tedesco FS, Corada M, Trani M, D Antuono R, Queensta M, Orsenigo F, Galvez BG, Cossu G and Dejana E Targeting endothelial Junctional Adhesion Molecule-A/ EPAC/ Rap-1 axis as a novel strategy to increase stem cell engraftment in dystrophic muscles. Embo Mol Med. 6: PMID: Aiuti A, Cossu G, de Felipe P, Galli MC, Narayanan A, Renner M, Stahlbom M, Schneider CK, Voltz-Girolt C The Committee for Advanced Therapies (CAT) reflection paper on management of clinical risks deriving from insertional mutagenesis Hum Gene Ther Clin Dev. 24: PMID: Cappellari O & Cossu G Pericytes in development and pathology of skeletal muscle. Circ. Res. 113, PMID: Urciuolo A, Valeria Morbidoni A, Gattazzo F, Quarta M, Grumati P, Molon S, Montemurro F, Tedesco FS, Cossu G, Vozzi T, Rando TA, Bonaldo P Collagen VI is a key component of satellite cell niche. Nature Comm. Jun 7;4:1964. PMID: Cappellari O, Benedetti S, Innocenzi A, Tedesco FS, Moreno-Fortuny A, Ugarte G, Lampugnanui MG, Messina G and Cossu G Dll4 and PDGF-BB convert committed skeletal myoblasts to pericytes without erasing their myogenic memory. Developmental Cell 24, PMID: Michael Duchen 403. Sajic M, Mastrolia V, Lee CY, Trigo D, Sadeghian M, Mosley AJ, Gregson NA, Duchen MR, Smith KJ. Impulse conduction increases mitochondrial transport in adult mammalian peripheral nerves in vivo. PLoS Biol Dec;11(12):e Epub 2013 Dec 31. PMID: ; 404. Corona JC, de Souza SC, Duchen MR. PPARγ activation rescues mitochondrial function from inhibition of complex I and loss of PINK1. Exp Neurol Mar;253: Epub 2013 Dec 26. PMID: Logan CV, Szabadkai G, Sharpe JA, Parry DA, Torelli S, Childs AM, Kriek M, Phadke R, Johnson CA, Roberts NY, Bonthron DT, Pysden KA, Whyte T, Munteanu I, Foley AR, Wheway G, Szymanska K, Natarajan S, Abdelhamed ZA, Morgan JE, Roper H, Santen GW, Niks EH, van der Pol WL, Lindhout D, Raffaello A, De Stefani D, den Dunnen JT, Sun Y, Ginjaar I, Sewry CA, Hurles M, Rizzuto R; UK10K Consortium, Duchen MR, Muntoni F, Sheridan E. Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium 40 P a g e

105 signaling. Nat Genet Feb;46(2): Epub 2013 Dec 15. PMID: Kotiadis VN, Duchen MR, Osellame LD. Mitochondrial quality control and communications with the nucleus are important in maintaining mitochondrial function and cell health. Biochim Biophys Acta Apr;1840(4): Epub 2013 Nov 6. Review. PMID: Osellame LD, Duchen MR. Quality control gone wrong: mitochondria, lysosomal storage disorders and neurodegeneration. Br J Pharmacol Apr;171(8): Review. PMID: Chouchani ET, Pell VR, Gaude E, Aksentijević D, Sundier SY, Robb EL, Logan A, Nadtochiy SM, Ord EN, Smith AC, Eyassu F, Shirley R, Hu CH, Dare AJ, James AM, Rogatti S, Hartley RC, Eaton S, Costa AS, Brookes PS, Davidson SM, Duchen MR, Saeb-Parsy K, Shattock MJ, Robinson AJ, Work LM, Frezza C, Krieg T, Murphy MP. Ischaemic accumulation of succinate controls reperfusion injury through mitochondrial ROS. Nature Nov 20;515(7527): Epub 2014 Nov 5. PMID: Corona JC, Duchen MR. Impaired mitochondrial homeostasis and neurodegeneration: towards new therapeutic targets? J Bioenerg Biomembr Apr;47(1-2): Epub 2014 Sep 13. Review. PMID: Blacker TS, Mann ZF, Gale JE, Ziegler M, Bain AJ, Szabadkai G, Duchen MR. Separating NADH and NADPH fluorescence in live cells and tissues using FLIM. Nat Commun May 29;5:3936. PMID: ; 410. Ivanes F, Faccenda D, Gatliff J, Ahmed AA, Cocco S, Cheng CH, Allan E, Russell C, Duchen MR, Campanella M. The compound BTB06584 is an IF1 -dependent selective inhibitor of the mitochondrial F1 Fo-ATPase. Br J Pharmacol Sep;171(18): Epub 2014 Jul 1. PMID: Davidson SM, Foote K, Kunuthur S, Gosain R, Tan N, Tyser R, Zhao YJ, Graeff R, Ganesan A, Duchen MR, Patel S, Yellon DM. Inhibition of NAADP signalling on reperfusion protects the heart by preventing lethal calcium oscillations via two-pore channel 1 and opening of the mitochondrial permeability transition pore. Cardiovasc Res Dec 1;108(3): Epub 2015 Sep 22. PMID: Bhosale G, Sharpe JA, Sundier SY, Duchen MR. Calcium signaling as a mediator of cell energy demand and a trigger to cell death. Ann N Y Acad Sci Sep;1350: Review. PMID: Guedes-Dias P, de Proença J, Soares TR, Leitão-Rocha A, Pinho BR, Duchen MR, Oliveira JM. HDAC6 inhibition induces mitochondrial fusion, autophagic flux and reduces diffuse mutant huntingtin in striatal neurons. Biochim Biophys Acta Nov;1852(11): Epub 2015 Aug 21. PMID: Nickel AG, von Hardenberg A, Hohl M, Löffler JR, Kohlhaas M, Becker J, Reil JC, Kazakov A, Bonnekoh J, Stadelmaier M, Puhl SL, Wagner M, Bogeski I, Cortassa S, Kappl R, Pasieka B, Lafontaine M, Lancaster CR, Blacker TS, Hall AR, Duchen MR, Kästner L, Lipp P, Zeller T, Müller C, Knopp A, Laufs U, Böhm M, Hoth M, Maack C. Reversal of Mitochondrial Transhydrogenase Causes Oxidative Stress in Heart Failure. Cell Metab Sep 1;22(3): Epub 2015 Aug 6. PMID: Shahni R, Cale CM, Anderson G, Osellame LD, Hambleton S, Jacques TS, Wedatilake Y, Taanman JW, Chan E, Qasim W, Plagnol V, Chalasani A, Duchen MR, 41 P a g e

106 Gilmour KC, Rahman S. Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission. Brain Oct;138(Pt 10): Epub 2015 Jun 29. PMID: Levine AP, Duchen MR, de Villiers S, Rich PR, Segal AW. Alkalinity of neutrophil phagocytic vacuoles is modulated by HVCN1 and has consequences for myeloperoxidase activity. PLoS One Apr 17;10(4):e ecollection PMID: Llorente-Folch I, Rueda CB, Pardo B, Szabadkai G, Duchen MR, Satrustegui J. The regulation of neuronal mitochondrial metabolism by calcium. J Physiol Aug 15;593(16): Review. PMID: Blacker TS, Duchen MR. Investigating mitochondrial redox state using NADH and NADPH autofluorescence. Free Radic Biol Med Aug 9. [Epub ahead of print] PMID: Bolaños JP, Cadenas E, Duchen MR, Hampton MB, Mann GE, Murphy MP. Introduction to Special Issue on Mitochondrial Redox Signaling in Health and Disease. Free Radic Biol Med Aug 5. [Epub ahead of print] PMID: Corona JC, Duchen MR. PPARγ as a therapeutic target to rescue mitochondrial function in neurological disease. Free Radic Biol Med Jun 25. [Epub ahead ofprint] PMID: McKenzie M, Duchen MR. Impaired Cellular Bioenergetics Causes Mitochondrial Calcium Handling Defects in MT-ND5 Mutant Cybrids. PLoS One Apr 25;11(4):e ecollection PMID: Hawkins KE, Joy S, Delhove JM, Kotiadis VN, Fernandez E, Fitzpatrick LM, Whiteford JR, King PJ, Bolanos JP, Duchen MR, Waddington SN, McKay TR. NRF2 Orchestrates the Metabolic Shift during Induced Pluripotent Stem Cell Reprogramming. Cell Rep Mar 1;14(8): Epub 2016 Feb 18. PMID: Elizabeth Fisher 422. Fratta, P., Charnock, J., Collins, T., Devoy, A., Howard, R., Malaspina, A., Orrell, R., Sidle, K., Clarke, J., Shoai, M., Lu, C-H., Hardy, J., Plagnol, V., Fisher, E.M.C. (2013) Profilin E117G is a moderate risk factor for amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry, 2013 Dec 5. PMID: Fratta, P., Hanna, M.G., Fisher, E.M.C., Sidle, K. (2013) An unusual presentation for SOD1-ALS: isolated facial diplegia. Muscle and Nerve. 48: PMID: Thorne, T., Fratta, P., Hanna, M.G., Cortese, A., Plagnol, V., Fisher, E.M.C., Stumpf, M.P.H. (2013) Graphical modelling of molecular networks underlying sporadic inclusion body myositis. Molecular Biosystems 9: PMID: Fratta, P., Malik, B., Gray, A., La Spada, A., Hanna, M.G., Fisher, E.M.C., Greensmith, L. (2013) FUS is not dysregulated by the spinal bulbar muscular atrophy androgen receptor polyglutamine repeat expansion. Neurobiol Aging 34: 1516e e19. PMID: Schiavo, G., Greensmith, L., Hafezparast, M., Fisher, E.M.C. (2013). Cytoplasmic Dynein Heavy Chain: the servant of many masters. Trends in Neurosciences 36, PMID: P a g e

107 427. McGoldrick, P., Joyce, P.I., Fisher, E.M.C., Greensmith, L. (2013). Rodent models of amyotrophic lateral sclerosis. Biochim Biophys Acta 1832: PMID: Saccon, R., Bunton-Stasyshyn, R., Fisher, E.M.C.*, Fratta, P. (2013). Is SOD1 loss of function involved in amyotrophic lateral sclerosis? Brain, 136: PMID: Bunton-Stasyshyn, R.K.A., Saccon, R.A., Fratta, P., Fisher, E.M.C. (2014) SOD1 function and its implications for ALS pathology: New and renascent themes. The Neuroscientist, PMID: Mizielinska, S., Grönke, Niccoli, T., Ridler, C.E., Clayton, E.L., Devoy, A., Moens, T., Norona, F.E., Woollacott, I.O.C., Pietrzyk, J., Cleverley, K., Nicoll, A.J., Pickering-Brown, S., Dols, J., Cabecinha, M., Hendrich, O., Fratta, P., Fisher, E.M.C., Partridge, L., Isaacs, A.M. (2014) C9orf72 repeat expansions cause neurodegeneration in Drosophila through argininerich proteins. Science 345: PMID: Fratta, P., Nirmalananthan, N., Masset, L., Skorupinska, I., Collins, T., Cortese, A., Pemble, S., Malaspina, A., Fisher, E.M.C., Greensmith, L., Hanna, M. (2014) Correlation of clinical and molecular features in spinal bulbar muscular atrophy. Neurology 82: 1-8 PMID: Cortese, A., Plagnol, V., Brady, S., Simone, R., Lashley, T., Acevedo-Arozena, A., de Silva, R., Greensmith, L., Holton, J., Hanna, M.G., Fisher, E.M.C., Fratta, P. (2014) Widespread RNA metabolism is impaired in sporadic inclusion body myositis TDP43- proteinopathy. Neurobiol Ageing 35: PMID: Da Ma, Cardoso, M.J., Modat, M., Powell, N., Wells, J., Holmes, H., Wiseman, F., Tybulewicz, V.L.J., Fisher, E.M.C., Lythgoe, M. F., Ourselin, S.O. (2014) Automatic Structural Parcellation of Mouse Brain MRI using Multi-Atlas Label Fusion. PLOS ONE 9(1): e PMID: Garrett, C.A., Barri, M., Kuta, A., Soura, V., Deng, W., Fisher, E.M.C., Schiavo, G., Hafezparast, M. (2014) DYNC1H1 mutation alters transport kinetics and ERK1/2-cFos signalling in a mouse model of distal spinal muscular atrophy. Brain 137: PMID: Ricketts, T., McGoldrick, P., Fratta, P., Kent, R., Phatak, V., Brandner, S., Greensmith L., Acevedo-Arozena, A., Fisher E.M.C. (2014) A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects. PLoS ONE 9(1): e PMID: Fratta, P., Collins, T., Pemble, S., Nethisinghe, S., Devoy, A., Giunti, P., Sweeney, M.G., Hanna, M.G., Fisher, E.M.C. (2014) Sequencing analysis of the SBMA CAG expansion reveals absence of repeat interruptions. Neurobiol Ageing. 443.e1-443.e3. PMID: Joyce, P.I., Fratta, P., Landman, A., McGoldrick, P., Wackerhage, H., Groves, M., Busam, B.S., Galino, J., Corrochano, S., Beskina, O.A., Esapa, C., Ryder, E., Carter, S., Stewart, M., Codner, G., Hilton, H., Teboul, L., Lionikas, A., Estabel, J., Ramirez-Solis, R., White, J.K., Tucker, J., Brandner, S., Plagnol V., Bennett, L.H., Abramov, A.Y., Greensmith, L., Fisher, E.M.C.*, Acevedo-Arozena, A.* (2015) Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration. Hum Molec Genet. 25: PMID: Joyce, P.I., McGoldrick, P., Saccon, R. A., Weber, W., Fratta, P., West, S. J., Zhu, N., Carter, S., Phatak, V., Stewart, M., Simon, M., Kumar, S., Heise, I., Bros-Facer, V., Dick, J., Luong, T., Nolan, P.M., Meyer, T., Brandner, S., Bennett, D.L.H., Ozdinler, P.H., 43 P a g e

108 Greensmith, L., Fisher, E.M.C.*, Acevedo-Arozena, A. (2015) A SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity. Hum. Molec. Genet. 24: PMID: *corresponding author Fratta P, Polke JM, Newcombe J, Mizielinska S, Lashley T, Poulter M, Beck J, Preza E, Devoy A, Sidle K, Howard R, Malaspina A, Orrell RW, Clarke J, Lu CH, Mok K, Collins T, Shoaii M, Nanji T, Wray S, Adamson G, Pittman A, Renton AE, Traynor BJ, Sweeney MG, Revesz T, Houlden H, Mead S, Isaacs AM, Fisher EM.C.(2015) Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion. Neurobiol Aging. 36: 546.e1 546.e7. PMID: Linda Greensmith 440. B Malik, N Nirmalananthan, A Gray, AR La Spada, MG Hanna & L Greensmith (2013) Co-induction of the heat shock response ameliorates disease in a mouse model of human Spinal Bulbar Muscular Atrophy: implications for therapy Brain 136 (Pt 3): PMID: P Fratta, B Malik, A Gray, A La Spada, MG Hanna, EM Fisher and L Greensmith (2013) FUS is not dysregulated by the SBMA Androgen Receptor polyglutamine repeat expansion Neurobiology of Aging 34(5):1516. e17-9 PMID: JC Mitchell, P McGoldrick, CA Vance, T Hortobagyi, J Sreedharan, B Rogelj, EL Tudor, N Smith, C Klasen, CC Miller, JD Cooper, L Greensmith & CE Shaw (2013) Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age and dosedependent fashion Acta Neuropathologia 125(2): PMID: EC Oates*, AM Rossor*, M Hafezparast, M Gonzalez, F Speziani, DG MacArthur, M Lek, E Cottenie, M Scoto, AR Foley, M Hurles, H Houlden, L Greensmith, M Auer- Grumbach, TR Pieber, TM Strom, R Schule, DN Herrmann, JE Sowden, G Acsadi, MP Menezes, NF Clarke, S Züchner, UK10K, F Muntoni, KN North, MM Reilly. (2013) Mutations in BICD2 cause Dominant Congenital Spinal Muscular Atrophy (DCSMA) and Hereditary Spastic Paraplegia (HSP). American Journal of Human Genetics 92, PMID: McGoldrick P, Joyce PI, Fisher EM & Greensmith L (2013) Rodent models of amyotrophic lateral sclerosis. Biochim Biophys Acta 1832 (9): PMID: G Schiavo, L Greensmith, M Hafezparast & E.M.C. Fisher (2013) Cytoplasmic dynein heavy chain: the servant of many masters. Trends Neurosci, 36 (11): PMID: SS Novoselov*, W J. Mustill*, A L Gray, J R Dick, N Kanuga, B Kalmar, L Greensmith & M E. Cheetham (2013) Molecular chaperone mediated late-stage neuroprotection in the SOD1 G93A mouse model of amyotrophic lateral sclerosis. PLOS One 8 (8): e PMID: C J Sumner, C d Ydewalle, J Wooley, KA Fawcett, D Hernandez, AR Gardiner, B Kalmar, R H Baloh, M Gonzalez, S Züchner, HC Stanescu, R Kleta, A Mankodi, DR Cornblath, KB Boylan, MM Reilly, L Greensmith, AB Singleton, MB Harms, AM Rossor and H Houlden (2013) Dominant mutation of FBXO38 causes distal spinal muscular atrophy with calf predominance. American Journal of Human Genetics 93 (5): PMID: P a g e

109 448. B Kalmar*, C-Hua Lu* and L Greensmith (2014) The role of heat shock proteins in Amyotrophic Lateral Sclerosis: the therapeutic potential of Arimoclomol. Pharmacology and Therapeutics Reviews 141 (1): PMID: *T Ricketts*, P McGoldrick*, P Fratta 3, R Kent, V Phatak, S Brandner, L Greensmith, A Acevedo-Arozena and E.M.C. Fisher, (2014) A nonsense mutation in mouse Tardbp causes a loss of TDP43 alternative splicing activity in the absence of motor dysfunction. PLOS One 9 (1):e85962 PMID: *A Cortese, V Plagnol, S Brady, R Simone, T Lashley, A Acevedo-Arozena, R de Silva, L Greensmith, J Holton, M Hanna, E Fisher and P Fratta. (2014) Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy Neurobiology of Aging 35 (6): PMID: *P Fratta, N Nirmalananthan, L Masset, I Skorupinska, T Collins, A Cortese, S Pemble, A Malaspina, E Fisher, L Greensmith and M Hanna (2014) Correlation of clinical and molecular features in spinal bulbar muscular atrophy. Neurology 82(23): PMID: JB Bryson, CB Machado, M Crossley, D Stevenson, V Bros-Facer, J Burrone, L Greensmith # and I Lieberam # (2014) Optical-control of muscle function by transplantation of stem cell-derived motoneurons in mice. Science 344(6179):94-7 PMID: V Bros-Facer, D Krull, A Taylor, JRT Dick, SA Bates, MS Cleveland, RK Prinjha and L Greensmith (2014) Treatment with an antibody directed against Nogo-A delays disease progression in the SOD1G93A mouse model of Amyotrophic Lateral Sclerosis. Human Molecular Genetics 23(16): PMID: *K Montague, B Malik, AL Gray, A R La Spada, MG Hanna, G Szabadkai & L Greensmith (2014) Endoplasmic reticulum stress in Spinal and Bulbar Muscular Atrophy- a potential target for therapy. Brain 137(Pt 7): PMID: LK Petchey, CA Risebro, JM Vieira, T Roberts, JB Bryson, L Greensmith, MF Lythgoe & PR Riley (2014) Loss of Prox1 in striated muscle causes slow to fast skeletal muscle fibretype conversion and dilated cardiomyopathy. PNAS 111(26): PMID: J Carroll, TK Page, SC Chiang, B Kalmar, D Bode, L Greensmith, PJ Mckinnon, JR Thorpe, M Hafezparast & SF El-Khamisy (2015) Expression of a pathogenic mutation of SOD1 sensitizes aprataxin-deficient cells and mice to oxidative stress and triggers hallmarks of premature ageing. Hum Mol Genet. 24(3): PMID: M Mielcarek, M Toczek, C Smeets, SA Franklin, MK Bondulich, N Jolinnon,Muller, M Ahmed, JRT Dick, I Piotrowska, L Greensmith, RT Smolenski and GP Bates (2015) HDAC4-myogenin axis as an important marker of HD-related skeletal muscles atrophy. PLOS Genetics 11(3). PMID: C-H Lu, C Macdonald-Wallis, E Gray, N Pearce, A Petzold, N Norgren, G Giovannoni, P Fratta, K Sidle, M Fish, R Orrell, R Howard, K Talbot, L Greensmith, J Kuhle, MR Turner, A Malaspina (2015) Neurofilament light chain: a prognostic biomarker in amyotrophic lateral sclerosis. Neurology 84(22): PMID: M Pennuto, L Greensmith, PF Pradat, Sorarù G; European SBMA Consortium(2015). 210th ENMC International Workshop: Research and clinical management of patients with 45 P a g e

110 spinal and bulbar muscular atrophy, March, 2015, Naarden, The Netherlands. Neuromuscular Disorders 25 (10) PMID: NR Martin, SL Passey, DJ Player, V Mudera, K Baar, L Greensmith and M Lewis M (2015). Neuromuscular junction formation in tissue engineered skeletal muscle augments contractile function and improves cytoskeletal organisation. Tissue Eng Part A. 21(19-20): PMID: R Rusmini, V Crippa, R Cristofani, C Rinaldi, S Carra, B Malik, Greensmith L*, Poletti A* (2015). The role of the protein quality control system in SBMA. J Mol Neurosci 58, C Rinaldi, B Malik and L Greensmith L (2015) Targeted molecular therapies for SBMA. J Mol Neurosci 58, PMID: KL Gibbs, L Greensmith & G Schiavo (2015) Regulation of Axonal Transport by Protein Kinases. Trends Biochem Sci. 40(10): PMID: Joyce PI, Mcgoldrick P, Saccon RA, Weber W, Fratta P, West SJ, Zhu N, Carter S, Phatak V, Stewart M, Simon M, Kumar S, Heise I, Bros-Facer V, Dick J, Corrochano S, Stanford MJ, Luong TV, Nolan PM, Meyer T, Brandner S, Bennett DL, Ozdinler PH, Greensmith L, Fisher EM, Acevedo-Arozena A. A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity. Hum Mol Genet Apr 1;24(7): PMID: Lu CH, Macdonald-Wallis C, Gray E, Pearce N, Petzold A, Norgren N, Giovannoni G, Fratta P, Sidle K, Fish M, Orrell R, Howard R, Talbot K, Greensmith L, Kuhle J, Turner MR, Malaspina A. Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis. Neurology Jun 2;84(22): PMID: Martin NR, Passey SL, Player DJ, Mudera V, Baar K, Greensmith L, Lewis M.Neuromuscular junction formation in tissue engineered skeletal muscle augments contractile function and improves cytoskeletal organisation. Tissue Eng Part A Jul 13. [Epub ahead of print] PMID: C-H Lu, K Allen, F Oei, E Leoni, J Kuhle, T Tree, P Fratta, N Sharma, K Sidle, R Howard, R Orrell, M Fish, L Greensmith, N Pearce, V Gallo and A Malaspina (2016) Systemic inflammatory response and neuromuscular involvement in Amyotrophic Lateral Sclerosis Neurology, Neuroimmmunology and Neuroinflammation 2016 Jun 1;3(4):e244. ecollection PMID: A Smith A, S Passey, N Martin, D Player, V Mudera, L Greensmith L and M Lewis. Creating Interactions Between Tissue-Engineered Skeletal Muscle and the Peripheral Nervous System Cells, Tissues, Organs In Press 469. P Joyce, P Fratta, A Landman#, P McGoldrick#, H Wackerhage, M Groves, B Shiva Busam, J Galino, S Corrochano, O Beskina, C Esapa, E Ryder, S Carter, M Stewart, G Codner, H Hilton, L Teboul, A Lionikas, J Estabel, A Lionikas, JK White, J Tucker, S Brandner, V Plagnol, DLH Bennet, A Abramov, L Greensmith*, E Fisher* & A Acevedo Arozena* (2016) Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration in mice. Hum Mol Genetics 25(2): PMID: KL Gibbs, B Kalmar, JN Sleigh, L Greensmith and G Schiavo (2016). In vivo imaging of axonal transport in murine motor and sensory neurons. J Neurosci Methods 257: PMID: P a g e

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150 Manera J, Gallardo E, Karaduman AA, Topaloglu H, Sherif RE, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Beroud C, Lochmüller H. The TREAT-NMD DMD Global database: Analysis of More Than 7000 Duchenne Muscular Dystrophy Mutations. Hum Mutat. 2015; 36(4): PMID: *Belaya K, Rodriguez Cruz PM, Liu WW, Maxwell S, McGowan S, Farrugia ME, Petty R, Walls TJ, Sedghi M, Basiri K, Yue WW, Sarkozy A, Bertoli M, Pitt M, Kennett R, Schaefer A, Bushby K, Parton M, Lochmüller H, Palace J, Muntoni F, Beeson D. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain PMID: Bansagi B, Antoniadi T, Burton-Jones S, Murphy SM, McHugh J, Alexander M, Wells R, Davies J, Hilton-Jones D, Lochmüller H, Chinnery P, Horvath R. Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland. J Neurol PMID: Vissing J, Barresi R, Witting N, Van Ghelue M, Gammelgaard L, Bindoff LA, Straub V, Lochmüller H, Hudson J, Wahl CM, Arnardottir S, Dahlbom K, Jonsrud C, Duno M. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. Brain PMID: *Scotton C, Bovolenta M, Schwartz E, Falzarano MS, Martoni E, Passarelli C, Armaroli A, Osman H, Rodolico C, Messina S, Pegoraro E, D'Amico A, Bertini E, Gualandi F, Neri M, Selvatici R, Boffi P, Maioli MA, Lochmüller H, Straub V, Bushby K, Castrignano T, Pesole G, Sabatelli P, Merlini L, Braghetta P, Bonaldo P, Bernardi P, Foley R, Cirak S, Zaharieva I, Muntoni F, Capitanio D, Gelfi C, Kotelnikova E, Yuryev A, Lebowitz M, Zhang X, Hodge BA, Esser KA, Ferlini A. Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy. J Cell Sci. 2016;129: PMID: *Rodriguez Cruz PM, Belaya K, Basiri K, Sedghi M, Farrugia ME, Holton JL, Liu WW, Maxwell S, Petty R, Walls TJ, Kennett R, Pitt M, Sarkozy A, Parton M, Lochmüller H, Muntoni F, Palace J, Beeson D. Clinical features of the myasthenic syndrome arising from mutations in GMPPB. J Neurol Neurosurg Psychiatry PMID: Oonk S, Spitali P, Hiller M, Switzar L, Dalebout H, Calissano M, Lochmüller H, Aartsma-Rus A, Hoen PA, van der Burgt YE. Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne muscular dystrophy patients. Proteomics Clin Appl. 2016;10: PMID: O'Connor E, Topf A, Muller JS, Cox D, Evangelista T, Colomer J, Abicht A, Senderek J, Hasselmann O, Yaramis A, Laval SH, Lochmüller H. Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. Brain PMID: Natera-de Benito D, Nascimento A, Abicht A, Ortez C, Jou C, Muller JS, Evangelista T, Topf A, Thompson R, Jimenez-Mallebrera C, Colomer J, Lochmüller H. KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors. J Neurol. 2016;263: PMID: *Meng J, Counsell JR, Reza M, Laval SH, Danos O, Thrasher A, Lochmüller H, Muntoni F, Morgan JE. Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy. Sci Rep. 2016;6: PMID: P a g e

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155 930. Boglarka Bansagi, Helen Griffin, Roger Whittaker, Thalia Antoniadi, James Miller, Teresinha Evangelista, Sarah Burton-Jones, Jennifer Duff, Stephanie Kleinle, Hannah Steele Anna Bradshaw, Venkatateswaran Ramesh, Edit Franko, Angela Pyle, Veronika Boczonadi, Hanns Lochmüller, Patrick F. Chinnery, Rita Horvath. Genes and disease mechanisms in 105 patients with hereditary motor neuropathies from the North of England. Ann Neurol In press. Volker Straub 931. *Zaharieva IT, Calissano M, Scoto M, Preston M, Cirak S, Feng L, Collins J, Kole R, Guglieri M, Straub V, Bushby K, Ferlini A, Morgan JE, Muntoni F. Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. PLoS One. 2013; 8(11):e PMID: *Willis TA, Hollingsworth KG, Coombs A, Sveen ML, Andersen S, Stojkovic T, Eagle M, Mayhew A, de Sousa PL, Dewar L, Morrow JM, Sinclair CD, Thornton JS, Bushby K, Lochmüller H, Hanna MG, Hogrel JY, Carlier PG, Vissing J, Straub V. Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. PLoS One. 2013; 8(8):e PMID: Wagner M, Chaouch A, Muller JS, Polvikoski T, Willis TA, Sarkozy A, Eagle M, Bushby K, Straub V, Lochmüller H. Presymptomatic late-onset Pompe disease identified by the dried blood spot test. Neuromuscul Disord. 2013; 23(1): PMID: Vissing J, Lukacs Z, Straub V. Diagnosis of Pompe disease: muscle biopsy vs bloodbased assays. JAMA Neurol. 2013; 70(7): PMID: *Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Penisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Glaser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H. ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. Hum Mutat. 2013; 34(8): PMID: Rodger S, Lochmüller H, Tassoni A, Gramsch K, Konig K, Bushby K, Straub V, Korinthenberg R, Kirschner J. The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases. Orphanet J Rare Dis. 2013; PMID: *Quinlivan R, Mitsuahashi S, Sewry C, Cirak S, Aoyama C, Mooore D, Abbs S, Robb S, Newton T, Moss C, Birchall D, Sugimoto H, Bushby K, Guglieri M, Muntoni F, Nishino I, Straub V. Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype. Neuromuscul Disord. 2013; 23(7): PMID: Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer J, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HCA, Horvath R, Straub V, Bushby K, Lochmüller H, Chinnery P, Sarkozy A. A founder mutation in the titin gene is a common cause of myofibrillar myopathy with early respiratory failure. Neuromuscular Disorders. 2013; 23(9-10):820-. PMID: P a g e

156 939. Muller T, Mizumoto S, Suresh I, Komatsu Y, Vodopiutz J, Dundar M, Straub V, Lingenhel A, Melmer A, Lechner S, Zschocke J, Sugahara K, Janecke AR. Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome. Hum Mol Genet. 2013; 22(18): PMID: *McCormack P, Woods S, Aartsma-Rus A, Hagger L, Herczegfalvi A, Heslop E, Irwin J, Kirschner J, Moeschen P, Muntoni F, Ouillade MC, Rahbek J, Rehmann-Sutter C, Rouault F, Sejersen T, Vroom E, Straub V, Bushby K, Ferlini A. Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational. PLoS Curr. 2013; 5. PMID: *Loseth S, Voermans NC, Torbergsen T, Lillis S, Jonsrud C, Lindal S, Kamsteeg EJ, Lammens M, Broman M, Dekomien G, Maddison P, Muntoni F, Sewry C, Radunovic A, de Visser M, Straub V, van Engelen B, Jungbluth H. A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. J Neurol. 2013; 260(6): PMID: Hollingsworth KG, Willis TA, Bates MGD, Dixon BJ, Lochmüller H, Bushby K, Bourke J, MacGowan GA, Straub V. Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I. European Journal of Heart Failure. 2013; 15(9): PMID: Hollingsworth KG, Garrood P, Eagle M, Bushby K, Straub V. Magnetic resonance imaging in Duchenne muscular dystrophy: longitudinal assessment of natural history over 18 months. Muscle Nerve. 2013; 48(4): PMID: Harris E, Laval S, Hudson J, Barresi R, De Waele L, Straub V, Lochmüller H, Bushby K, Sarkozy A. Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysis. PLoS Curr. 2013; 5. PMID: Greally E, Davison BJ, Blain A, Laval S, Blamire A, Straub V, MacGowan GA. Heterogeneous abnormalities of in-vivo left ventricular calcium influx and function in mouse models of muscular dystrophy cardiomyopathy. J Cardiovasc Magn Reson. 2013; 154. PMID: *Foley AR, Quijano-Roy S, Collins J, Straub V, McCallum M, Deconinck N, Mercuri E, Pane M, D'Amico A, Bertini E, North K, Ryan MM, Richard P, Allamand V, Hicks D, Lamande S, Hu Y, Gualandi F, Auh S, Muntoni F, Bonnemann CG. Natural history of pulmonary function in collagen VI-related myopathies. Brain. 2013; 136(Pt 12): PMID: *Dlamini N, Voermans NC, Lillis S, Stewart K, Kamsteeg EJ, Drost G, Quinlivan R, Snoeck M, Norwood F, Radunovic A, Straub V, Roberts M, Vrancken AF, van der Pol WL, de Coo RI, Manzur AY, Yau S, Abbs S, King A, Lammens M, Hopkins PM, Mohammed S, Treves S, Muntoni F, Wraige E, Davis MR, van Engelen B, Jungbluth H. Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. Neuromuscul Disord. 2013; 23(7): PMID: Cooke RM, Mistry R, Challiss RA, Straub VA. Nitric oxide synthesis and cgmp production is important for neurite growth and synapse remodeling after axotomy. J Neurosci. 2013; 33(13): PMID: P a g e

157 949. Blain A, Greally E, Laval S, Blamire A, Straub V, MacGowan GA. Beta-blockers, left and right ventricular function, and in-vivo calcium influx in muscular dystrophy cardiomyopathy. PLoS One. 2013; 8(2):e PMID: Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L, Campbell C, Dai Y, Barisic N, Kos T, Brabec P, Rahbek J, Lahdetie J, Tuffery-Giraud S, Claustres M, Leturcq F, Ben Yaou R, Walter MC, Schreiber O, Karcagi V, Herczegfalvi A, Viswanathan V, Bayat F, de la Caridad Guerrero Sarmiento I, Ambrosini A, Ceradini F, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Oliveira J, Santos R, Neagu E, Butoianu N, Artemieva S, Rasic VM, Posada M, Palau F, Lindvall B, Bloetzer C, Karaduman A, Topaloglu H, Inal S, Oflazer P, Stringer A, Shatillo AV, Martin AS, Peay H, Flanigan KM, Salgado D, von Rekowski B, Lynn S, Heslop E, Gainotti S, Taruscio D, Kirschner J, Verschuuren J, Bushby K, Beroud C, Lochmüller H. The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat. 2013; 34(11): PMID: Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans NC, Birk DE, Barton ER, Koch M, Bonnemann CG. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum Mol Genet. 2014; 23(9): PMID: *Willis TA, Hollingsworth KG, Coombs A, Sveen ML, Andersen S, Stojkovic T, Eagle M, Mayhew A, de Sousa PL, Dewar L, Morrow JM, Sinclair CD, Thornton JS, Bushby K, Lochmüller H, Hanna MG, Hogrel JY, Carlier PG, Vissing J, Straub V. Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational crosssectional study. PLoS One. 2014; 9(2):e PMID: *Voit T, Topaloglu H, Straub V, Muntoni F, Deconinck N, Campion G, De Kimpe SJ, Eagle M, Guglieri M, Hood S, Liefaard L, Lourbakos A, Morgan A, Nakielny J, Quarcoo N, Ricotti V, Rolfe K, Servais L, Wardell C, Wilson R, Wright P, Kraus JE. Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study. Lancet Neurol. 2014; 13(10): PMID: Van Ruiten HJ, Straub V, Bushby K, Guglieri M. Improving recognition of Duchenne muscular dystrophy: a retrospective case note review. Arch Dis Child. 2014; 99(12): PMID: *Van den Bergen JC, Hiller M, Bohringer S, Vijfhuizen L, Ginjaar HB, Chaouch A, Bushby K, Straub V, Scoto M, Cirak S, Humbertclaude V, Claustres M, Scotton C, Passarelli C, Lochmüller H, Muntoni F, Tuffery-Giraud S, Ferlini A, Aartsma-Rus AM, Verschuuren JJ, t Hoen PA, Spitali P. Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants. J Neurol Neurosurg Psychiatry PMID: Rutschow D, Bauer R, Gohringer C, Bekeredjian R, Schinkel S, Straub V, Koenen M, Weichenhan D, Katus HA, Muller OJ. S151A delta-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice. Eur J Hum Genet. 2014; 22(1): PMID: Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer JB, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HC, Horvath R, Straub V, Bushby K, Lochmüller H, Chinnery PF, Sarkozy A. 93 P a g e

158 Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry. 2014; 85(3): PMID: Landfeldt E, Lindgren P, Bell CF, Schmitt C, Guglieri M, Straub V, Lochmüller H, Bushby K. The burden of Duchenne muscular dystrophy: an international, cross-sectional study. Neurology. 2014; 83(6): PMID: Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttila S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG. Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/beta-Cardiac Myosin (MYH7) Distal Myopathy. Hum Mutat. 2014; 35(7): PMID: Hollingsworth KG, Higgins DM, McCallum M, Ward L, Coombs A, Straub V. Investigating the quantitative fidelity of prospectively undersampled chemical shift imaging in muscular dystrophy with compressed sensing and parallel imaging reconstruction. Magn Reson Med. 2014; 72(6): PMID: Hicks D, Farsani GT, Laval S, Collins J, Sarkozy A, Martoni E, Shah A, Zou Y, Koch M, Bonnemann CG, Roberts M, Lochmüller H, Bushby K, Straub V. Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. Hum Mol Genet. 2014; 23(9): PMID: Haberlova J, Mitrovic Z, Zarkovic K, Lovric D, Baric V, Berlengi L, Bilic K, Fumic K, Kranz K, Huebner A, von der Hagen M, Barresi R, Bushby K, Straub V, Baric I, Lochmüller H. Psycho-organic symptoms as early manifestation of adult onset POMT1- related limb girdle muscular dystrophy. Neuromuscul Disord. 2014; 24(11): PMID: *Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Zuchner S, Muntoni F, Houlden H. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain. 2014; 137(Pt 1): PMID: Cynthia Martin F, Hiller M, Spitali P, Oonk S, Dalebout H, Palmblad M, Chaouch A, Guglieri M, Straub V, Lochmüller H, Niks EH, Verschuuren JJ, Aartsma-Rus A, Deelder AM, van der Burgt YE, t Hoen PA. Fibronectin is a serum biomarker for Duchenne muscular dystrophy. Proteomics Clin Appl. 2014; 8(3-4): PMID: Chaouch A, Porcelli V, D. C, Edvardson S, Scarcia P, De Grassi A, Pierri C, Cossins J, Laval S, Griffin H, Mueller J, Evangelista T, Topf A, Abicht A, Huebner A, von der Hagen M, Busbhy K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmüller H. Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. Journal of Neuromuscular Diseases. 2014; 1(1): PMID: Chaouch A, Brennan KM, Hudson J, Longman C, McConville J, Morrison PJ, Farrugia ME, Petty R, Stewart W, Norwood F, Horvath R, Chinnery PF, Costigan D, Winer J, Polvikoski T, Healy E, Sarkozy A, Evangelista T, Pogoryelova O, Eagle M, Bushby K, 94 P a g e

159 Straub V, Lochmüller H. Two recurrent mutations are associated with GNE myopathy in the North of Britain. J Neurol Neurosurg Psychiatry. 2014; 85(12): PMID: Laden CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GV, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C, Lochmüller H. Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. J Neurol. 2014; 261(1): PMID: *Ayoglu B, Chaouch A, Lochmüller H, Politano L, Bertini E, Spitali P, Hiller M, Niks EH, Gualandi F, Ponten F, Bushby K, Aartsma-Rus A, Schwartz E, Le Priol Y, Straub V, Uhlen M, Cirak S, t Hoen PA, Muntoni F, Ferlini A, Schwenk JM, Nilsson P, Al-Khalili Szigyarto C. Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies. EMBO Mol Med. 2014; 6(7): PMID: *Anthony K, Arechavala-Gomeza V, Taylor LE, Vulin A, Kaminoh Y, Torelli S, Feng L, Janghra N, Bonne G, Beuvin M, Barresi R, Henderson M, Laval S, Lourbakos A, Campion G, Straub V, Voit T, Sewry CA, Morgan JE, Flanigan KM, Muntoni F. Dystrophin quantification: Biological and translational research implications. Neurology. 2014; 83(22): PMID: *Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Janghra N, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F. Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping. JAMA Neurol. 2014; 71(1): PMID: Srinivasan R, Rawlings D, Wood CL, Cheetham T, Moreno AC, Mayhew A, Eagle M, Guglieri M, Straub V, Owen C, Bushby K, Sarkozy A. Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy. Muscle Nerve. 2016;54: *Wood CL, Straub V, Guglieri M, Bushby K, Cheetham T. Short stature and pubertal delay in Duchenne muscular dystrophy. Arch Dis Child PMID: Palmio J, Evila A, Bashir A, Norwood F, Viitaniemi K, Vihola A, Huovinen S, Straub V, Hackman P, Hirano M, Bushby K, Udd B. Re-evaluation of the phenotype caused by the common MATR3 p.ser85cys mutation in a new family. J Neurol Neurosurg Psychiatry PMID: *Lynn S, Aartsma-Rus A, Bushby K, Furlong P, Goemans N, De Luca A, Mayhew A, McDonald C, Mercuri E, Muntoni F, Pohlschmidt M, Verschuuren J, Voit T, Vroom E, Wells DJ, Straub V. Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy. Neuromuscul Disord. 2015; 25(1): PMID: Loughran T, Higgins DM, McCallum M, Coombs A, Straub V, Hollingsworth KG. Improving highly accelerated fat fraction measurements for clinical trials in muscular dystrophy: origin and quantitative effect of r2* changes. Radiology. 2015; 275(2): PMID: P a g e

160 975. Landfeldt E, Lindgren P, Bell C, Schmitt C, Guglieri M, Straub V, Lochmüller H, Bushby K. Compliance to Care Guidelines for Duchenne Muscular Dystrophy. J Neuromusc Dis. 2015; 2(1): Heslop E, Csimma C, Straub V, McCall J, Nagaraju K, Wagner KR, Caizergues D, Korinthenberg R, Flanigan KM, Kaufmann P, McNeil E, Mendell J, Hesterlee S, Wells DJ, Bushby K, Tact. The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development. Orphanet J Rare Dis. 2015; PMID: *Figueroa-Bonaparte S, Hudson J, Barresi R, Polvikoski T, Williams T, Topf A, Harris E, Hilton-Jones D, Petty R, Willis TA, Longman C, Dougan CF, Parton MJ, Hanna MG, Quinlivan R, Farrugia ME, Guglieri M, Bushby K, Straub V, Lochmüller H, Evangelista T. Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK. J Neurol Neurosurg Psychiatry PMID: Evangelista T, Bansagi B, Pyle A, Griffin H, Douroudis K, Polvikoski T, Antoniadi T, Bushby K, Straub V, Chinnery PF, Lochmüller H, Horvath R. Phenotypic variability of TRPV4 related neuropathies. Neuromuscul Disord. 2015; 25(6): PMID: Blain AM, Greally E, Laval SH, Blamire AM, MacGowan GA, Straub VW. Assessment of ventricular function in mouse models of muscular dystrophy: a comparison of MRI with conductance catheter. Neuromuscul Disord. 2015; 25(1): PMID: Blain A, Greally E, Laval SH, Blamire AM, MacGowan GA, Straub VW. Absence of Cardiac Benefit with Early Combination ACE Inhibitor and Beta Blocker Treatment in mdx Mice. J Cardiovasc Transl Res. 2015; 8(3): PMID: Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barisic N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Diaz- Manera J, Gallardo E, Karaduman AA, Topaloglu H, Sherif RE, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Beroud C, Lochmüller H. The TREAT-NMD DMD Global database: Analysis of More Than 7000 Duchenne Muscular Dystrophy Mutations. Hum Mutat. 2015; 36(4): PMID: Barresi R, Morris C, Hudson J, Curtis E, Pickthall C, Bushby K, Davies NP, Straub V. Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G. Neuromuscul Disord. 2015; 25(4): PMID: Wood CL, Straub V, Guglieri M, Bushby K, Cheetham T. Short stature and pubertal delay in Duchenne muscular dystrophy. Arch Dis Child. 2016;101: PMID: Vissing J, Barresi R, Witting N, Van Ghelue M, Gammelgaard L, Bindoff LA, Straub V, Lochmüller H, Hudson J, Wahl CM, Arnardottir S, Dahlbom K, Jonsrud C, Duno M. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. Brain PMID: Straub V, Bertoli M. Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies? Neuromuscul Disord. 2016;26: PMID: P a g e

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162 995. Jalil A, Usmani HA, Khan MI, Blakely EL, Taylor RW, Vassallo G, Ashworth J. Bilateral paediatric optic neuropathy precipitated by vitamin B12 deficiency and a novel mitochondrial DNA mutation. Int Ophthalmol Dec;33(6): Epub 2013 Apr 10. PMID: Spyropoulos A, Manford M, Horvath R, Alston CL, Yu-Wai-Man P, He L, Taylor RW, Chinnery PF. Near-identical segregation of mtdna heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy. JAMA Neurol Dec;70(12): PMID: Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, Blakely EL, Lamantea E, Donnini C, Santra S, Vijayaraghavan S, Roper HP, Burlina A, Kopajtich R, Walther A, Strom TM, Haack TB, Prokisch H, Taylor RW, Ferrero I, Zeviani M, Ghezzi D. MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Hum Mutat Nov;34(11): Epub 2013 Sep 17. PMID: Schaefer AM, Walker M, Turnbull DM, Taylor RW. Endocrine disorders in mitochondrial disease. Mol Cell Endocrinol Oct 15;379(1-2):2-11. Epub 2013 Jun 13. Review. PMID: Bates MG, Newman JH, Jakovljevic DG, Hollingsworth KG, Alston CL, Zalewski P, Klawe JJ, Blamire AM, MacGowan GA, Keavney BD, Bourke JP, Schaefer A, McFarland R, Newton JL, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Defining cardiac adaptations and safety of endurance training in patients with m.3243a>g-related mitochondrial disease. Int J Cardiol Oct 9;168(4): Epub 2013 Jun 3. PMID: Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet Sep 5;93(3): Epub 2013 Aug 29. Erratum in: Am J Hum Genet Oct 3;93(4):773. PMID: Blakely EL, Yarham JW, Alston CL, Craig K, Poulton J, Brierley C, Park SM, Dean A, Xuereb JH, Anderson KN, Compston A, Allen C, Sharif S, Enevoldson P, Wilson M, Hammans SR, Turnbull DM, McFarland R, Taylor RW. Pathogenic mitochondrial trna point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease. Hum Mutat Sep;34(9): PMID: Al-Owain M, Colak D, Albakheet A, Al-Younes B, Al-Humaidi Z, Al-Sayed M, Al-Hindi H, Al-Sugair A, Al-Muhaideb A, Rahbeeni Z, Al-Sehli A, Al-Fadhli F, Ozand PT, Taylor RW, Kaya N. Clinical and biochemical features associated with BCS1L mutation. J Inherit Metab Dis Sep;36(5): Epub 2012 Sep 19. PMID: Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA, Prokisch H. ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am J Hum Genet Aug 8;93(2): Epub 2013 Jul 11. PMID: *Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R. The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243a>g mutation--implications 98 P a g e

163 for diagnosis and management. J Neurol Neurosurg Psychiatry Aug;84(8): Epub 2013 Jan 25. PMID: Wedatilake Y, Brown RM, McFarland R, Yaplito-Lee J, Morris AA, Champion M, Jardine PE, Clarke A, Thorburn DR, Taylor RW, Land JM, Forrest K, Dobbie A, Simmons L, Aasheim ET, Ketteridge D, Hanrahan D, Chakrapani A, Brown GK, Rahman S. SURF1 deficiency: a multi-centre natural history study. Orphanet J Rare Dis Jul 5;8:96. PMID: Bates MG, Hollingsworth KG, Newman JH, Jakovljevic DG, Blamire AM, MacGowan GA, Keavney BD, Chinnery PF, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers. Eur Heart J Cardiovasc Imaging Jul;14(7): Epub 2012 Nov 4. PMID: Giordano C, Perli E, Orlandi M, Pisano A, Tuppen HA, He L, Ierinò R, Petruzziello L, Terzi A, Autore C, Petrozza V, Gallo P, Taylor RW, d'amati G. Cardiomyopathies due to homoplasmic mitochondrial trna mutations: morphologic and molecular features. Hum Pathol Jul;44(7): Epub 2013 Jan 17. PMID: Henderson M, De Waele L, Hudson J, Eagle M, Sewry C, Marsh J, Charlton R, He L, Blakely EL, Horrocks I, Stewart W, Taylor RW, Longman C, Bushby K, Barresi R. Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities. Acta Neuropathol Jun;125(6): Epub 2013 Apr 11. PMID: Campbell GR, Reeve A, Ziabreva I, Polvikoski TM, Taylor RW, Reynolds R, Turnbull DM, Mahad DJ. Mitochondrial DNA deletions and depletion within paraspinal muscles. Neuropathol Appl Neurobiol Jun;39(4): PMID: Elson JL, Cadogan M, Apabhai S, Whittaker RG, Phillips A, Trennell MI, Horvath R, Taylor RW, McFarland R, McColl E, Turnbull DM, Gorman GS. Initial development and validation of a mitochondrial disease quality of life scale. Neuromuscul Disord Apr;23(4): Epub 2013 Feb 20. PMID: Whittaker RG, Hall E, Mansoor MK, Taylor RW, Turnbull DM. Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease. J Peripher Nerv Syst Mar;18(1): PMID: Yarham JW, Blakely EL, Alston CL, Roberts ME, Ealing J, Pal P, Turnbull DM, McFarland R, Taylor RW. The m.3291t>c mt-trna(leu(uur)) mutation is definitely pathogenic and causes multisystem mitochondrial disease. J Neurol Sci Feb 15;325(1-2): Epub 2012 Dec 27. PMID: Lax NZ, Gnanapavan S, Dowson SJ, Alston CL, He L, Polvikoski TM, Jaros E, O'Donovan DG, Yarham JW, Turnbull DM, Dean AF, Taylor RW. Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial trnaglu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study. J Neuropathol Exp Neurol Feb;72(2): PMID: Payne BA, Wilson IJ, Yu-Wai-Man P, Coxhead J, Deehan D, Horvath R, Taylor RW, Samuels DC, Santibanez-Koref M, Chinnery PF. Universal heteroplasmy of human mitochondrial DNA. Hum Mol Genet Jan 15;22(2): Epub 2012 Oct 16. PMID: P a g e

164 1015. Kinghorn KJ, Kaliakatsos M, Blakely EL, Taylor RW, Rich P, Clarke A, Omer S. Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations. J Neurol Jan;260(1):3-9. Epub 2012 Jun 24. Review. PMID: Yu-Wai-Man C, Smith FE, Firbank MJ, Guthrie G, Guthrie S, Gorman GS, Taylor RW, Turnbull DM, Griffiths PG, Blamire AM, Chinnery PF, Yu-Wai-Man P. Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia. PLoS One Sep 27;8(9):e ecollection PMID: Smith PM, Elson JL, Greaves LC, Wortmann SB, Rodenburg RJ, Lightowlers RN, Chrzanowska-Lightowlers ZM, Taylor RW, Vila-Sanjurjo A. The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rrna with high disruptive potential. Hum Mol Genet Feb 15;23(4): Epub 2013 Oct 2. PMID: Almalki A, Alston CL, Parker A, Simonic I, Mehta SG, He L, Reza M, Oliveira JM, Lightowlers RN, McFarland R, Taylor RW, Chrzanowska-Lightowlers ZM. Mutation of the human mitochondrial phenylalanine-trna synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency. Biochim Biophys Acta Jan;1842(1): Epub 2013 Oct 24. PMID: Grady JP, Campbell G, Ratnaike T, Blakely EL, Falkous G, Nesbitt V, Schaefer AM, McNally RJ, Gorman GS, Taylor RW, Turnbull DM, McFarland R. Disease progression in patients with single, large-scale mitochondrial DNA deletions. Brain Feb;137(Pt 2): Epub 2013 Nov 25. PMID: Perli E, Giordano C, Pisano A, Montanari A, Campese AF, Reyes A, Ghezzi D, Nasca A, Tuppen HA, Orlandi M, Di Micco P, Poser E, Taylor RW, Colotti G, Francisci S, Morea V, Frontali L, Zeviani M, d'amati G. The isolated carboxy-terminal domain of human mitochondrial leucyl-trna synthetase rescues the pathological phenotype of mitochondrial trna mutations in human cells. EMBO Mol Med Feb;6(2): Epub 2014 Jan 10. PMID: Uusimaa J, Evans J, Smith C, Butterworth A, Craig K, Ashley N, Liao C, Carver J, Diot A, Macleod L, Hargreaves I, Al-Hussaini A, Faqeih E, Asery A, Al Balwi M, Eyaid W, Al-Sunaid A, Kelly D, van Mourik I, Ball S, Jarvis J, Mulay A, Hadzic N, Samyn M, Baker A, Rahman S, Stewart H, Morris AA, Seller A, Fratter C, Taylor RW, Poulton J. Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. Eur J Hum Genet Feb;22(2): Epub 2013 May 29. PMID: Pyle A, Ramesh V, Bartsakoulia M, Boczonadi V, Gomez-Duran A, Herczegfalvi A, Blakely EL, Smertenko T, Duff J, Eglon G, Moore D, Yu-Wai-Man P, Douroudis K, Santibanez-Koref M, Griffin H, Lochmüller H, Karcagi V, Taylor RW, Chinnery PF, Horvath R. Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene. J Neuromuscul Dis. 2014;1(1): PMID: Grady JP, Murphy JL, Blakely EL, Haller RG, Taylor RW, Turnbull DM, Tuppen HA. Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle. PLoS One Dec 4;9(12):e ecollection PMID: Lehmann D, Schubert K, Joshi PR, Baty K, Blakely EL, Zierz S, Taylor RW, 100 P a g e

165 Deschauer M. A novel m.7539c>t point mutation in the mt-trna(asp) gene associated with multisystemic mitochondrial disease. Neuromuscul Disord Jan;25(1):81-4. Epub 2014 Sep 28. PMID: *Di Foggia V, Zhang X, Licastro D, Gerli MF, Phadke R, Muntoni F, Mourikis P, Tajbakhsh S, Ellis M, Greaves LC, Taylor RW, Cossu G, Robson LG, Marino S. Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy. J Exp Med Dec 15;211(13): Epub 2014 Dec 1. PMID: Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, Mousson de Camaret B, Chretien D, Munnich A, Menten B, Sante T, Smet J, Régal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rötig A, Haack TB, Minczuk M, Prokisch H. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. Am J Hum Genet Dec 4;95(6): Epub 2014 Nov 26. PMID: Griffin HR, Pyle A, Blakely EL, Alston CL, Duff J, Hudson G, Horvath R, Wilson IJ, Santibanez-Koref M, Taylor RW, Chinnery PF. Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations. Genet Med Dec;16(12): Epub 2014 Jun 5. PMID: Nesbitt V, Alston CL, Blakely EL, Fratter C, Feeney CL, Poulton J, Brown GK, Turnbull DM, Taylor RW, McFarland R. A national perspective on prenatal testing for mitochondrial disease. Eur J Hum Genet Nov;22(11): Epub 2014 Mar 19. PMID: Balreira A, Boczonadi V, Barca E, Pyle A, Bansagi B, Appleton M, Graham C, Hargreaves IP, Rasic VM, Lochmüller H, Griffin H, Taylor RW, Naini A, Chinnery PF, Hirano M, Quinzii CM, Horvath R. ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency. J Neurol Nov;261(11): Epub 2014 Sep 3. PMID: Melchionda L, Haack TB, Hardy S, Abbink TE, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D, Zeviani M. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. Am J Hum Genet Sep 4;95(3): Epub 2014 Aug 28. PMID: Campbell G, Krishnan KJ, Deschauer M, Taylor RW, Turnbull DM. Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle. Hum Mol Genet Sep 1;23(17): Epub 2014 Apr 15. PMID: Greaves LC, Nooteboom M, Elson JL, Tuppen HA, Taylor GA, Commane DM, Arasaradnam RP, Khrapko K, Taylor RW, Kirkwood TB, Mathers JC, Turnbull DM. Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing. PLoS Genet Sep 18;10(9):e ecollection 2014 Sep. PMID: P a g e

166 1033. Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H. Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. Orphanet J Rare Dis Aug 20;9:119. Review. PMID: Grünewald A, Lax NZ, Rocha MC, Reeve AK, Hepplewhite PD, Rygiel KA, Taylor RW, Turnbull DM. Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue. J Neurosci Methods Jul 30;232: Epub 2014 May 29. PMID: Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA Jul 2;312(1): PMID: Blakely EL, Alston CL, Lecky B, Chakrabarti B, Falkous G, Turnbull DM, Taylor RW, Gorman GS. Distal weakness with respiratory insufficiency caused by the m.8344a > G "MERRF" mutation. Neuromuscul Disord Jun;24(6): Epub 2014 Apr 1. PMID: Yarham JW, Lamichhane TN, Pyle A, Mattijssen S, Baruffini E, Bruni F, Donnini C, Vassilev A, He L, Blakely EL, Griffin H, Santibanez-Koref M, Bindoff LA, Ferrero I, Chinnery PF, McFarland R, Maraia RJ, Taylor RW. Defective i6a37 modification of mitochondrial and cytosolic trnas results from pathogenic mutations in TRIT1 and its substrate trna. PLoS Genet Jun 5;10(6):e ecollection 2014 Jun. PMID: Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. Brain May;137(Pt 5): Epub 2014 Apr 10. PMID: Keogh MJ, Daud D, Pyle A, Duff J, Griffin H, He L, Alston CL, Steele H, Taggart S, Basu AP, Taylor RW, Horvath R, Ramesh V, Chinnery PF. A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism. Neurogenetics Jan;16(1):65-7. Epub 2014 Nov 25. PMID: Whittaker RG, Devine HE, Gorman GS, Schaefer AM, Horvath R, Ng Y, Nesbitt V, Lax NZ, McFarland R, Cunningham MO, Taylor RW, Turnbull DM. Epilepsy in adults with mitochondrial disease: A cohort study. Ann Neurol Dec;78(6): Epub 2015 Nov 17. PMID: Oláhová M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, Alston CL, He L, Aznauryan E, Brown RM, Brown GK, Morris AA, Mundy H, Broomfield A, Barbosa IA, 102 P a g e

167 Simpson MA, Deshpande C, Moeslinger D, Koch J, Stettner GM, Bonnen PE, Prokisch H, Lightowlers RN, McFarland R, Chrzanowska-Lightowlers ZM, Taylor RW. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain Dec;138(Pt 12): Epub 2015 Oct 27. PMID: Lehmann D, Schubert K, Joshi PR, Hardy SA, Tuppen HA, Baty K, Blakely EL, Bamberg C, Zierz S, Deschauer M, Taylor RW. Pathogenic mitochondrial mt-trna(ala) variants are uniquely associated with isolated myopathy. Eur J Hum Genet Dec;23(12): Epub 2015 Apr 15. PMID: Elson JL, Smith PM, Greaves LC, Lightowlers RN, Chrzanowska-Lightowlers ZM, Taylor RW, Vila-Sanjurjo A. The presence of highly disruptive 16S rrna mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease. Mitochondrion Nov;25: Epub 2015 Sep 5. PMID: Rocha MC, Grady JP, Grünewald A, Vincent A, Dobson PF, Taylor RW, Turnbull DM, Rygiel KA. A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis. Sci Rep Oct 15;5:15037.PMID: Lightowlers RN, Taylor RW, Turnbull DM. Mutations causing mitochondrial disease: What is new and what challenges remain? Science Sep 25;349(6255): Epub 2015 Sep 24. Review. PMID: Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Bürgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. J Inherit Metab Dis Sep;38(5): Epub 2015 Apr 14. PMID: Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk M. TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial trna Associated with Multiple Respiratory-Chain Deficiencies. Am J Hum Genet Aug 6;97(2): Epub 2015 Jul 16. PMID: Alston CL, Ceccatelli Berti C, Blakely EL, Oláhová M, He L, McMahon CJ, Olpin SE, Hargreaves IP, Nolli C, McFarland R, Goffrini P, O'Sullivan MJ, Taylor RW. A recessive homozygous p.asp92gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. Hum Genet Aug;134(8): Epub 2015 May 26. PMID: Lax NZ, Alston CL, Schon K, Park SM, Krishnakumar D, He L, Falkous G, Ogilvy-Stuart A, Lees C, King RH, Hargreaves IP, Brown GK, McFarland R, Dean AF, Taylor RW. Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. J Neuropathol Exp Neurol Jul;74(7): PMID: P a g e

168 1050. Gorman GS, Blakely EL, Hornig-Do HT, Tuppen HA, Greaves LC, He L, Baker A, Falkous G, Newman J, Trenell MI, Lecky B, Petty RK, Turnbull DM, McFarland R, Taylor RW. Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression. Clin Sci (Lond) Jun;128(12): PMID: Olpin SE, Murphy E, Kirk RJ, Taylor RW, Quinlivan R. The investigation and management of metabolic myopathies. J Clin Pathol Jun;68(6): Epub 2015 Apr 15. PMID: Hanisch F, Kornhuber M, Alston CL, Taylor RW, Deschauer M, Zierz S. SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions. J Neurol Neurosurg Psychiatry Jun;86(6):630-4.Epub 2014 Aug 20. PMID: Rygiel KA, Grady JP, Taylor RW, Tuppen HA, Turnbull DM. Triplex real-time PCR--an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells. Sci Rep May 19;5:9906. PMID: Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U, de Vries MC, Schottmann G, Santra S, Büchner B, Wieland T, Graf E, Freisinger P, Eggimann S, Ohtake A, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Sauer S, Memari Y, Kolb-Kokocinski A, Durbin R, Hasselmann O, Cremer K, Albrecht B, Wieczorek D, Engels H, Hahn D, Zink AM, Alston CL, Taylor RW, Rodenburg RJ, Trollmann R, Sperl W, Strom TM, Hoffmann GF, Mayr JA, Meitinger T, Bolognini R, Schuelke M, Nuoffer JM, Kölker S, Prokisch H, Klopstock T. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann Clin Transl Neurol May;2(5): Epub 2015 Mar 13. PMID: Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, Feeney C, Horvath R, Yu-Wai-Man P, Chinnery PF, Taylor RW, Turnbull DM, McFarland R. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol May;77(5): Epub 2015 Mar 28. PMID: Payne BA, Gardner K, Blakely EL, Maddison P, Horvath R, Taylor RW, Chinnery PF. Clinical and pathological features of mitochondrial DNA deletion disease following antiretroviral treatment. JAMA Neurol May;72(5): PMID: Rygiel KA, Miller J, Grady JP, Rocha MC, Taylor RW, Turnbull DM. Mitochondrial and inflammatory changes in sporadic inclusion body myositis. Neuropathol Appl Neurobiol Apr;41(3): PMID: Besse A, Wu P, Bruni F, Donti T, Graham BH, Craigen WJ, McFarland R, Moretti P, Lalani S, Scott KL, Taylor RW, Bonnen PE. The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. Cell Metab Mar 3;21(3): PMID: *Hall AM, Vilasi A, Garcia-Perez I, Lapsley M, Alston CL, Pitceathly RD, McFarland R, Schaefer AM, Turnbull DM, Beaumont NJ, Hsuan JJ, Cutillas PR, Lindon JC, Holmes E, Unwin RJ, Taylor RW, Gorman GS, Rahman S, Hanna MG. The urinary proteome and metabonome differ from normal in adults with mitochondrial disease. Kidney Int Mar;87(3): Epub 2014 Sep 10 PMID: P a g e

169 1060. McCann BJ, Tuppen HA, Küsters B, Lammens M, Smeitink JA, Taylor RW, Rodenburg RJ, Wortmann SB. A novel mitochondrial DNA m.7507a>g mutation is only pathogenic at high levels of heteroplasmy. Neuromuscul Disord Mar;25(3): Epub 2014 Nov 13. PMID: Gorman GS, Grady JP, Ng Y, Schaefer AM, McNally RJ, Chinnery PF, Yu-Wai-Man P, Herbert M, Taylor RW, McFarland R, Turnbull DM. Mitochondrial donation--how many women could benefit? N Engl J Med Feb 26;372(9): Epub 2015 Jan 28. PMID: Bargiela D, Shanmugarajah P, Lo C, Blakely EL, Taylor RW, Horvath R, Wharton S, Chinnery PF, Hadjivassiliou M. Mitochondrial pathology in progressive cerebellar ataxia. Cerebellum Ataxias Dec 4;2:16. ecollection PMID: Brito S, Thompson K, Campistol J, Colomer J, Hardy SA, He L, Fernández-Marmiesse A, Palacios L, Jou C, Jiménez-Mallebrera C, Armstrong J, Montero R, Artuch R, Tischner C, Wenz T, McFarland R, Taylor RW. Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations. Front Genet Jul 28;6:254. ecollection PMID: Brito S, Thompson K, Campistol J, Colomer J, Hardy SA, He L, Fernández-Marmiesse A, Palacios L, Jou C, Jiménez-Mallebrera C, Armstrong J, Montero R, Artuch R, Tischner C, Wenz T, McFarland R, Taylor RW. Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations. Front Genet Mar 23;6:102. ecollection Erratum in: Front Genet. 2015;6:254. PMID: Gorman GS, Pfeffer G, Griffin H, Blakely EL, Kurzawa-Akanbi M, Gabriel J, Sitarz K, Roberts M, Schoser B, Pyle A, Schaefer AM, McFarland R, Turnbull DM, Horvath R, Chinnery PF, Taylor RW. Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28. JAMA Neurol Jan;72(1): PMID: Perli E, Fiorillo A, Giordano C, Pisano A, Montanari A, Grazioli P, Campese AF, Di Micco P, Tuppen HA, Genovese I, Poser E, Preziuso C, Taylor RW, Morea V, Colotti G, d'amati G. Short peptides from leucyl-trna synthetase rescue disease-causing mitochondrial trna point mutations. Hum Mol Genet Mar 1;25(5): Epub 2015 Dec 31. PMID: Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. J Inherit Metab Dis Mar;39(2): Epub 2015 Oct 16. PMID: de Laat P, Janssen MC, Alston CL, Taylor RW, Rodenburg RJ, Smeitink JA. Three families with 'de novo' m.3243a > G mutation. BBA Clin Apr 29;6:19-24 ecollection 2016 Dec. PMID: Kennedy H, Haack TB, Hartill V, Mataković L, Baumgartner ER, Potter H, Mackay R, Alston CL, O'Sullivan S, McFarland R, Connolly G, Gannon C, King R, Mead S, 105 P a g e

170 Crozier I, Chan W, Florkowski CM, Sage M, Höfken T, Alhaddad B, Kremer LS, Kopajtich R, Feichtinger RG, Sperl W, Rodenburg RJ, Minet JC, Dobbie A, Strom TM, Meitinger T, George PM, Johnson CA, Taylor RW, Prokisch H, Doudney K, Mayr JA. Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. Am J Hum Genet Sep 1;99(3): Epub 2016 Aug 11. PMID: Alston CL, Howard C, Oláhová M, Hardy SA, He L, Murray PG, O'Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW. A recurrent mitochondrial p.trp22arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. J Med Genet Sep;53(9): Epub 2016 Apr 18. PMID: Anagnostou ME, Ng YS, Taylor RW, McFarland R. Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review. Epilepsia Aug 24. [Epub ahead of print] Review. PMID: Ng YS, Grady JP, Lax NZ, Bourke JP, Alston CL, Hardy SA, Falkous G, Schaefer AG, Radunovic A, Mohiddin SA, Ralph M, Alhakim A, Taylor RW, McFarland R, Turnbull DM, Gorman GS. Sudden adult death syndrome in m.3243a>g-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults. Eur Heart J Aug 21;37(32): Epub 2015 Jul 17. PMID: Floyd BJ, Wilkerson EM, Veling MT, Minogue CE, Xia C, Beebe ET, Wrobel RL, Cho H, Kremer LS, Alston CL, Gromek KA, Dolan BK, Ulbrich A, Stefely JA, Bohl SL, Werner KM, Jochem A, Westphall MS, Rensvold JW, Taylor RW, Prokisch H, Kim JJ, Coon JJ, Pagliarini DJ. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Mol Cell Aug 18;63(4): doi: /j.molcel Epub 2016 Aug 4. PMID: Ng YS, Hardy SA, Shrier V, Quaghebeur G, Mole DR, Daniels MJ, Downes SM, Freebody J, Fratter C, Hofer M, Nemeth AH, Poulton J, Taylor RW. Clinical features of the pathogenic m.5540g>a mitochondrial transfer RNA tryptophan gene mutation. Neuromuscul Disord Aug 17. [Epub ahead of print] PMID: Vincent AE, Grady JP, Rocha MC, Alston CL, Rygiel KA, Barresi R, Taylor RW, Turnbull DM. Mitochondrial dysfunction in myofibrillar myopathy. Neuromuscul Disord Aug 10. pii: S (16) [Epub ahead of print] PMID: Vincent AE, Ng YS, White K, Davey T, Mannella C, Falkous G, Feeney C, Schaefer AM, McFarland R, Gorman GS, Taylor RW, Turnbull DM, Picard M. The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy. Sci Rep Aug 10;6: PMID: Ehinger JK, Piel S, Ford R, Karlsson M, Sjövall F, Frostner EÅ, Morota S, Taylor RW, Turnbull DM, Cornell C, Moss SJ, Metzsch C, Hansson MJ, Fliri H, Elmér E. Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency. Nat Commun Aug 9;7: PMID: Hardy SA, Blakely EL, Purvis AI, Rocha MC, Ahmed S, Falkous G, Poulton J, Rose MR, O'Mahony O, Bermingham N, Dougan CF, Ng YS, Horvath R, Turnbull DM, Gorman GS, Taylor RW. Pathogenic mtdna mutations causing mitochondrial myopathy: The need for muscle biopsy. Neurol Genet Jun 23;2(4):e82. ecollection 2016 Aug. PMID: P a g e

171 1078. Chrysostomou A, Grady JP, Laude A, Taylor RW, Turnbull DM, Lax NZ. Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease. Neuropathol Appl Neurobiol Aug;42(5): Epub 2015 Sep 30. PMID: McKiernan P, Ball S, Santra S, Foster K, Fratter C, Poulton J, Craig K, McFarland R, Rahman S, Hargreaves I, Gupte G, Sharif K, Taylor RW. Incidence of Primary Mitochondrial Disease in Children Presenting With Acute Liver Failure Under 2 Years of Age. J Pediatr Gastroenterol Nutr Jul 30. [Epub ahead of print] PMID: Ng YS, Feeney C, Schaefer AM, Holmes CE, Hynd P, Alston CL, Grady JP, Roberts M, Maguire M, Bright A, Taylor RW, Yiannakou Y, McFarland R, Turnbull DM, Gorman GS. Pseudo-obstruction, stroke and mitochondrial dysfunction: A lethal combination. Ann Neurol Jul 25. [Epub ahead of print] PMID: Sallevelt SC, de Die-Smulders CE, Hendrickx AT, Hellebrekers DM, de Coo IF, Alston CL, Knowles C, Taylor RW, McFarland R, Smeets HJ. De novo mtdna point mutations are common and have a low recurrence risk. J Med Genet Jul 22. [Epub ahead of print] PMID: Ng YS, Alston CL, Diodato D, Morris AA, Ulrick N, Kmoch S, Houštěk J, Martinelli D, Haghighi A, Atiq M, Gamero MA, Garcia-Martinez E, Kratochvílová H, Santra S, Brown RM, Brown GK, Ragge N, Monavari A, Pysden K, Ravn K, Casey JP, Khan A, Chakrapani A, Vassallo G, Simons C, McKeever K, O'Sullivan S, Childs AM, Østergaard E, Vanderver A, Goldstein A, Vogt J, Taylor RW, McFarland R. The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. J Med Genet Jul 13. [Epub ahead of print] PMID: Metodiev MD, Thompson K, Alston CL, Morris AA, He L, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rötig A, Taylor RW. Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. Am J Hum Genet Jul 7;99(1):246. PMID: Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. Am J Hum Genet Jul 7;99(1): Epub 2016 Jun 30. PMID: Mathieu L, Costa AL, Le Bachelier C, Slama A, Lebre AS, Taylor RW, Bastin J, Djouadi F. Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3. Free Radic Biol Med Jul;96: Epub 2016 Apr 25. PMID: Gupta A, Colmenero I, Ragge NK, Blakely EL, He L, McFarland R, Taylor RW, Vogt J, Milford DV. Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report. BMC Res Notes Jun 27;9:325. PMID: Rygiel KA, Tuppen HA, Grady JP, Vincent A, Blakely EL, Reeve AK, Taylor RW, 107 P a g e

172 Picard M, Miller J, Turnbull DM. Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis. Nucleic Acids Res Jun 20;44(11): Epub 2016 Apr 30. PMID: Kullar PJ, Quail J, Lindsey P, Wilson JA, Horvath R, Yu-Wai-Man P, Gorman GS, Taylor RW, Ng Y, McFarland R, Moore BC, Chinnery PF. Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction. Brain Jun;139(Pt 6):e33. Epub 2016 Mar 25. PMID: Martikainen MH, Ng YS, Gorman GS, Alston CL, Blakely EL, Schaefer AM, Chinnery PF, Burn DJ, Taylor RW, McFarland R, Turnbull DM. Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. JAMA Neurol Jun 1;73(6): PMID: Dombi E, Diot A, Morten K, Carver J, Lodge T, Fratter C, Ng YS, Liao C, Muir R, Blakely EL, Hargreaves I, Al-Dosary M, Sarkar G, Hickman SJ, Downes SM, Jayawant S, Yu-Wai-Man P, Taylor RW, Poulton J. The m.13051g>a mitochondrial DNA mutation results in variable neurology and activated mitophagy. Neurology May 17;86(20): Epub 2016 Apr 22. PMID: Metodiev MD, Thompson K, Alston CL, Morris AA, He L, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rötig A, Taylor RW. Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. Am J Hum Genet May 5;98(5): Epub 2016 Apr 28. PMID: Lewis-Smith D, Kamer KJ, Griffin H, Childs AM, Pysden K, Titov D, Duff J, Pyle A, Taylor RW, Yu-Wai-Man P, Ramesh V, Horvath R, Mootha VK, Chinnery PF. Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood. Neurol Genet Mar 3;2(2):e59. ecollection 2016 Apr. PMID: Pisano A, Cerbelli B, Perli E, Pelullo M, Bargelli V, Preziuso C, Mancini M, He L, Bates MG, Lucena JR, Della Monica PL, Familiari G, Petrozza V, Nediani C, Taylor RW, d'amati G, Giordano C. Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure. Cardiovasc Pathol Mar-Apr;25(2): Epub 2015 Sep 30. PMID: Wilson IJ, Carling PJ, Alston CL, Floros VI, Pyle A, Hudson G, Sallevelt SC, Lamperti C, Carelli V, Bindoff LA, Samuels DC, Wonnapinij P, Zeviani M, Taylor RW, Smeets HJ, Horvath R, Chinnery PF. Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck. Hum Mol Genet Mar 1;25(5): Epub 2016 Jan 5. PMID: Spiegel R, Saada A, Flannery PJ, Burté F, Soiferman D, Khayat M, Eisner V, Vladovski E, Taylor RW, Bindoff LA, Shaag A, Mandel H, Schuler-Furman O, Shalev SA, Elpeleg O, Yu-Wai-Man P. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. J Med Genet Feb;53(2): Epub 2015 Nov 11. PMID: Kullar P, Alston CL, Ball S, Blakely EL, Differ AM, Fratter C, Sweeney MG, Taylor RW, Chinnery PF. The frequency of the m.1555a>g (MTRNR1) variant in UK patients with suspected mitochondrial deafness. Hearing Balance Commun. 2016;14(2): Epub 2016 May 20. PMID: Ferrer-Cortès X, Narbona J, Bujan N, Matalonga L, Del Toro M, Arranz JA, 108 P a g e

173 Riudor E, Garcia-Cazorla A, Jou C, O'Callaghan M, Pineda M, Montero R, Arias A, García-Villoria J, Alston CL, Taylor RW, Briones P, Ribes A, Tort F. A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis. Mitochondrion Jan;26:72-80 Epub 2015 Dec 11. PMID: Michael Trenell Bates MG, Newman JH, Jakovljevic DG, Hollingsworth KG, Alston CL, Zalewski P, Klawe JJ, Blamire AM, MacGowan GA, Keavney BD, Bourke JP, Schaefer A, McFarland R, Newton JL, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Defining cardiac adaptations and safety of endurance training in patients with m.3243a>g-related mitochondrial disease. Int J Cardiol Oct 9;168(4): PMID: Galna B, Newman J, Jakovljevic DG, Bates MG, Schaefer AM, McFarland R, Turnbull DM, Trenell MI, Gorman GS, Rochester L. Discrete gait characteristics are associated with m.3243a>g and m.8344a>g variants of mitochondrial disease and its pathological consequences. J Neurol Jan;261(1): PMID: Gorman GS, Blakely EL, Hornig-Do HT, Tuppen HA, Greaves LC, He L, Baker A, Falkous G, Newman J, Trenell MI, Lecky B, Petty RK, Turnbull DM, McFarland R, Taylor RW. Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression. Clin Sci (Lond) Jun;128(12): PMID: Patrick Chinnery Keogh MJ, Daud D, Chinnery PF. Exome sequencing: how to understand it. Practical Neurology 2013 Dec;13(6): PMID: Pyle A, Griffin H, Duff J, Bennett S, Zwolinski S, Smertenko T, Yu-Wai Man P, Santibanez-Koref M, Horvath R, Chinnery PF. Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization. Journal of Neurogenetics 2013 Dec;27(4): PMID: Fisher KM, Chinnery PF, Baker SN, Baker MR Enhanced reticulospinal output in patients with (REEP1) hereditary spastic paraplegia type 31. Journal of Neurology 2013 Dec;260(12): PMID: Neeve VC, Pyle A, Boczonadi V, Gomez-Duran A, Griffin H, Santibanez-Koref M, Gaiser U, Bauer P, Tzschach A, Chinnery PF, Horvath R. Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT. Mitochondrion 2013 Nov;13(6): PMID: Keogh M, Chinnery PF. Hereditary mtdna heteroplasmy: a baseline for ageing? Cell Metabolism 2013 Oct 1;18(4): PMID: Yu-Wai-Man C, Smith FE, Firbank MJ, Guthrie G, Guthrie S, Gorman GS, Taylor RW, Turnbull DM, Griffiths PG, Blamire AM, Chinnery PF, Yu-Wai-Man P. Extraocular Muscle Atrophy and Central Nervous System Involvement in Chronic Progressive External Ophthalmoplegia. PLoS One 2013 Sep 27;8(9):e PMID: *Pfeffer P, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S, Hirano M, Zeviani M, Bindoff LA, Yu-Wai-Man P, Hanna M, Carelli V, McFarland R, Majamaa K, Turnbull DM, Smeitink J, Chinnery PF. New treatments for mitochondrial disease no time to drop our standard. Nature Reviews Neurology 2013 Aug;9(8): PMID: P a g e

174 1108. Yu-Wai-Man P, Chinnery PF. Dominant Optic Atrophy: Novel OPA1 Mutations and Revised Prevalence Estimates. Ophthalmology Aug;120(8): PMID: Keogh MJ, Morris CM, Chinnery PF. Neuroferritinopathy. International Reviews in Neurobiology 2013;110C: PMID: Pfeffer G, Burke A, Yu-Wai-Man P, D Alastair S Compston, Chinnery PF. The clinical features of MS associated with Leber hereditary optic neuropathy mtdna mutations. Neurology 2013:10;81(24): PMID: Gardner K, Hall PA, Chinnery PF, Payne BA. HIV Treatment and Associated Mitochondrial Pathology: Review of 25 Years of in Vitro, Animal, and Human Studies. Toxicological Pathology PMID: Yu-Wai-Man P, Chinnery PF. Leber Hereditary Optic Neuropathy Oct 26 [Updated 2013 Sep 19]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; Spyropoulos A, Manford M, Horvath R, Alston CL, Yu-Wai-Man P 1, He L-P, Taylor RW, Chinnery PF.Near identical segregation of mtdna heteroplasmy in blood, muscle, urinary epithelium and hair follicles in twins with optic atrophy, ptosis and intractable epilepsy. JAMA Neurology 2013;70(12): PMID: Peall K, Smith DJ, Kurian M, Wardle M, Waite A, Hedderly T, Lin J, Smith M, Whone A, Pall H, White C, Lux A, Jardine P, Bajaj N, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King M, Chinnery P, Warner T, Blake DJ, Owen M, Morris H. Are psychiatric symptoms a core phenotype of myoclonus dystonia syndrome caused by sgce mutations? Journal of Neurology Neurosurgery & Psychiatry 2013;84(9):e1. PMID: Chinnery PF. One complex world of mitochondrial parkinsonism Brain 2013 Aug;136(Pt 8): PMID: Bailie M, Votruba M, Griffiths PG, Chinnery PF, Yu-Wai-Man P. Visual and psychological morbidity among patients with autosomal dominant optic atrophy. Acta Ophthalmologica 2013 Aug;91(5):e PMID: Jaiser SR, Baker MR, Whittaker RG, Birchall D, Chinnery PF. Clinical Reasoning: A 39-year-old man with abdominal cramps. Neurology 2013 Jul 9;81(2):e5-9. PMID: Boczonadi V, Smith PM, Pyle A, Gomez-Duran A, Schara U, Tulinius M, Chinnery PF, Horvath R. Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency. Human Molecular Genetics 2013:22(22): PMID: Collerton J, Ashok D, Martin-Ruiz C, Pyle A, Hudson G, Yadegarfar M, Davies K, Jagger C, von Zglinicki T, Kirkwood TBL, Chinnery PF. Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very old. Neurobiology of Ageing 2013;34(12):2889.e1-4. PMID: Thouin A, Griffiths PG, Hudson G, Chinnery PF, Yu-Wai-Man P. Raised intraocular pressure as a potential risk factor for visual loss in Leber hereditary optic neuropathy. PLoS One 2013 May 7;8(5):e PMID: Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evilä A, Jonson PH, Luque H, Kere J, Screen M, Chinnery PF, Åhlberg G, Edström L, Udd B. Welander distal myopathy is 110 P a g e

175 caused by a mutation in the RNA- binding protein TIA1. Annals of Neurology 2013 Apr;73(4): PMID Hudson G, Chinnery PF. Mitochondrial genetics. British Medical Bulletin Br Med Bull. 2013;106: PMID: Yu-Wai-Man P, Chinnery PF. Reply: Sensorineural hearing loss in OPA1-linked disorders. Brain 2013 Feb 4. [Epub ahead of print] No abstract available. PMID: Keogh MJ, Chinnery PF. How to spot mitochondrial disease in adults. Clinical Medicine 2013 Feb;13(1): PMID: Samuels DC, Wonnapinij P, Chinnery PF. Preventing the transmission of pathogenic mitochondrial DNA mutations: can we achieve long-term benefits from germ-line gene transfer? Human Reproduction 2013:28(3): PMID: Bathgate D, Wigley R, Gorman G,, Horvath R, Chinnery PF. Childhood presentation of adult polyglucosan body disease: normal GBE1 sequence with no glycogen branching enzyme activity. Annals of Neurology 2013 Feb;73(2): PMID: Hudson G, Panoutsopoulou K, Wilson I, Southam L, Rayner NW, Arden N, Birrell F, Carluke I, Carr A, Chapman K, Deloukas P, Doherty M, McCaskie A, Ollier WER, Ralston SH, Reed MR, Spector TD, Valdes AM, Wallis GA, Wilkinson JM, arcogen Consortium, Zeggini E, Samuels DC, Loughlin J, Chinnery PF. No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls. Annals of the Rheumatic Diseases 2013 Jan;72(1): PMID: Keogh MJ, Singh B, Chinnery PF. Early neuropsychiatry features in neuroferritinopathy. Movement Disorders 2013;28: PMID: Peall KJ, Smith DJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine P, Bajaj N, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR. SGCE mutations cause psychiatric disorders: clinical and genetic characterization. Brain 2013 Jan;136(Pt 1): PMID: Payne BAI, Wilson IJ, Yu-Wai-Man P, Coxhead J, Deehan D, Horvath R, Taylor RW, Samuels DC, Santibanez-Koref M, Chinnery PF. Universal heteroplasmy of human mitochondrial DNA. Human Molecular Genetics 2013 Jan 15;22(2): PMID: Klopstock T, Metz G, Yu-Wai-Man P, Büchner B, Gallenmüller C, Bailie M, Nwali N, Griffiths P.G, von Livonius B, Reznicek L, Rouleau J, Coppard N, Meier T, Chinnery PF. Persistence of the treatment effect of idebenone in Leber s Hereditary Optic Neuropathy. Brain 2013 Feb;136(Pt 2):e230. PMID: Talim B, Pyle A, Griffin H, Topaloglu H, Tokatli A, Keogh MJ, Santibanez-Koref M, Chinnery PF, Horvath R. Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation. Brain 2013 Feb;136(Pt 2):e228. PMID: Pfeffer G, Pyle A, Griffin H, Miller J, Wilson V, Turnbull L, Fawcett K, Sim D, Eglon G, Hadjivassilio M, Horvath R, Németh A, Chinnery PF, SPG7 mutations are a common cause of undiagnosed ataxia. Neurology PMID: Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski- Feder E, Abicht A, Czermin B, Kleinle S, Morris AAM, Vassallo G, Gorman G, Ramesh V, 111 P a g e

176 Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF. Use of whole exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiency. Journal of the American Medical Association 2014;312(1): PMID: Pyle A, Smertenko T, Bargiela D, Griffin H, Duff J, Appleton M, Douroudis K, Pfeffer G, Santibanez-Koref M, Eglon G, Yu-Wai-Man P, Ramesh V, Horvath R, Chinnery PF. Exome sequencing in undiagnosed inherited and sporadic ataxias. Brain PMID: Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, Mousson de Camaret B, Chretien D, Munnich A, Menten B, Sante T, Smet J, Régal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rötig A, Haack TB, Minczuk M, Prokisch H. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. Am J Hum Genet Dec 4;95(6): PMID: Nile DL, Brown AE, Kumaheri MA, Blair HR, Heggie A, Miwa S, Cree LM, Payne B, Chinnery PF, Brown L, Gunn DA, Walker M. Age-related mitochondrial DNA depletion and the impact on pancreatic Beta cell function. PLoS One Dec 22;9(12):e PMID: *Heckman MG, Schottlaender L, Soto-Ortolaza AI, Diehl NN, Rayaprolu S, Ogaki K, Fujioka S, Murray ME, Cheshire WP, Uitti RJ, Wszolek ZK, Farrer MJ, Sailer A, Singleton AB, Chinnery PF, Keogh MJ, Gentleman SM, Holton JL, Aoife K, Mann DM, Al-Sarraj S, Troakes C, Dickson DW, Houlden H, Ross OA. LRRK2 exonic variants and risk of multiple system atrophy. Neurology Dec 9;83(24): PMID: Dimitriadis K, Leonhardt M, Yu-Wai-Man P, Kirkman MA, Korsten A, De Coo IF, Chinnery PF, Klopstock T. Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients. Orphanet J Rare Dis Oct 23;9:158. PubMed PMID: Herrmann DN, Horvath R, Sowden JE, Gonzales M, Sanchez-Mejias A, Guan Z, Whittaker RG, Almodovar JL, Lane M, Bansagi B, Pyle A, Boczonadi V, Lochmüller H, Griffin H, Chinnery PF, Lloyd TE, Littleton JT, Zuchner S.Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. American Journal of Human Genetics 2014 Sep 4;95(3): PMID: Balreira A, Boczonadi V, Barca E, Pyle A, Bansagi B, Appleton M, Graham C, Hargreaves IP, Rasic VM, Lochmüller H, Griffin H, Taylor RW, Naini A, Chinnery PF, Hirano M, Quinzii CM, Horvath R ANO10 mutations cause ataxia and coenzyme Q 10 deficiency. Journal of Neurology 2014 Sep 3. PMID: Peall KJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine PE, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR. SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype. Journal of Neurology 2014 Sep 11. [Epub ahead of print] PMID: Yu-Wai-Man P, Chinnery PF. Reply: 'Behr syndrome' with OPA1 compound 112 P a g e

177 heterozygote mutations. Brain 2014 Aug 21. pii: awu235. [Epub ahead of print] PMID: Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H. Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. Orphanet J Rare Diseases 2014 Aug 20;9(1):119. PMID: Chinnery PF. Mitochondrial Disorders Overview Jun 8 [Updated 2014 Aug 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; Available from: Boczonadi V, Müller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lützkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmüller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R. EXOSC8 mutations alter mrna metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nature Communications 2014 Jul 3;5:4287. PMID: Griffin HR, Pyle A, Blakely EL, Alston CL, Duff J, Hudson G, Rita Horvath R, Wilson IJ, Santibanez-Koref M, Taylor RW, Chinnery PF. Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations. Genetics in Medicine 2014: PMID: Yu-Wai-Man P, Chinnery PF. Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. Brain 2014 Jul 10. pii: awu187. [Epub ahead of print] PMID: Bargiela D, Eglon G, Horvath R, Chinnery PF. An Under-Recognised Cause of Spastic Paraparesis in Middle-Aged Women. Practical Neurology 2014 Jun;14(3): PMID: Whittaker RG, Chinnery PF, Miller JA. Teaching Video NeuroImages: Muscle cramps and a raised creatine kinase. Neurology 2014 Jun 17;82(24):e PMID Tzoulis C, Tuong Tran G, Coxhead J, Bertelsen B, Lilleng PK, Balafkan N, Payne B, Miletic H, Chinnery PF, Bindoff LA. The molecular pathogenesis of POLG-related neurodegeneration. Annals of Neurology PMID: Yarham JW, Lamichhane TN, Pyle A, Mattijssen S, Baruffini E, Bruni F, Donnini C, Vassilev A, He L, Blakely EL, Griffin H, Santibanez-Koref M, Bindoff LA, Ferrero I, Chinnery PF, McFarland R, Maraia RJ, Taylor RW. Defective i 6 A37 Modification of Mitochondrial and Cytosolic trnas Results from Pathogenic Mutations in TRIT1 and its Substrate trna. PLoS Genetics 2014 Jun 5;10(6):e PMID: Gorman GS, Pfeffer G, Griffin H, Blakely EL, Kurzawa-Akanbi M, Gabriel J, Sitarz K, Roberts M, Schoser B, Pyle A, Schaefer AM, McFarland R, Turnbull DM, Horvath R, Chinnery PF, Taylor RW. Clonal expansion of secondary mtdna deletions associated with spinocerebellar ataxia type 28. JAMA Neurology PMID: Pyle A, Ramesh V, Bartsakoulia M, Boczonadi V, Gomez-Duran A. Herczegfalvi A, Blakely EL, Smertenko T, Duff J, Eglon G, Moore D, Yu Wai Man P, Douroudis K, Santibanez-Koref M, Griffin H, Lochmuller H, Karcagi V, Taylor RW, Chinnery PF, 113 P a g e

178 Horvath R. Behr s Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene. Journal of Neuromuscular Disease 2014:1: PMID: Yu-Wai-Man P, Carelli V, Chinnery PF. 197th ENMC international workshop: Neuromuscular disorders of mitochondrial fusion and fission - OPA1 and MFN2 molecular mechanisms and therapeutic strategies: April 2013, Naarden, The Netherlands. Neuromuscular Disorders 2014 May 21. PMID: Hudson G, Gomez-Duran A, Wilson IJ, Chinnery PF. Recent mitochondrial DNA mutations increase the risk of developing common late-onset human diseases. PLoS Genetics 2014:May 22;10(5):e eCollection 2014 May. PMID: Gardner K, Payne BAI, Horvath R, Chinnery PF. Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA. European Journal of Human Genetics 2014 PMID: Sitarz KS, Elliott HR, Karaman BS, Relton C, Chinnery PF, Horvath R. Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. Molecular Genetics and Metabolism PMID: Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath,Taylor RW, Chinnery PF. Mutations in the spastic paraplegia 7 gene (SPG7) cause chronic progressive external ophthalmoplegia through disordered mtdna maintenance. Brain 2014 May. 137 (Pt 5): PMID: Chinnery PF, Craven L, Mitalipov S, Stewart JB, Herbert M, Turnbull DM. The challenges of mitochondrial replacement. PLoS Genetics 2014: Apr 24;10(4):e PMID: Chaouch A, Brennan KM, Hudson J, Longman C, McConville J, Morrison PJ, Farrugia ME, Petty R, Stewart W, Norwood F, Horvath R, Chinnery PF, Costigan D, Winer J, Polvikoski T, Healy E, Sarkozy A, Evangelista T, Pogoryelova O, Eagle M, Bushby K, Straub V, Lochmüller H. Two recurrent mutations are associated with GNE myopathy in the North of Britain. Journal of Neurology Neurosurgery & Psychiatry PMID: Yu-Wai-Man P, Votruba M, Moore AT, Chinnery PF. Treatment strategies for inherited optic neuropathies: past, present and future. Eye (Lond) Mar 7. PMID: Pfeffer G, Sambuughin N, Olivé M, Tyndel F, Toro C, Goldfarb LG, Chinnery PF. A new disease allele for the p.c30071r mutation in titin causing hereditary myopathy with early respiratory failure. Neuromuscular Disorders 2014 Mar;24(3): PMID: Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer J, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HCA, Horvath R, Straub V, Bushby K, Lochmuller H, Chinnery PF, Sarkozy A. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. Journal of Neurology Neurosurgery & Psychiatry 2014 Mar;85(3): PMID: Wiley L, Ashok D, Martin-Ruiz C, Talbot DC, Collerton J, Kingston A, Davies K, Chinnery PF, Catt M, Jagger C, Kirkwood TB, von Zglinicki T. Reactive oxygen species production and mitochondrial dysfunction in white blood cells are not valid biomarkers of 114 P a g e

179 ageing in the very old. PLoS One 2014 Mar 10;9(3):e ecollection PMID: Pfeffer G, Chinnery PF. Hereditary Myopathy with Early Respiratory Failure (HMERF). In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; Feb 27. PMID: Bulstrode H, Nicoll JA, Hudson G, Chinnery PF, Pietro VD, Belli A. Mitochondrial dna and traumatic brain injury. Annals of Neurology 2014;75: PMID: Pfeffer G, Joseph JT, Innes AM, Frizzell JB, Wilson IJ, Brownell AKW, Chinnery PF. Titinopathy in a Canadian family sharing the British founder haplotype. Canadian Journal of the Neurological Sciences 2014 Jan;41(1):90-4. PMID: Yu-Wai-Man P, Pyle A, Griffin H, Santibanez-Korev M, Horvath R, Chinnery PF. Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes. British Journal of Ophthalmology 2014 Jan 23. PMID: Pfeffer G, Chinnery PF Reply to Lange et al: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. Brain 2014: PMID: Pfeffer G, Griffin H, Pyle A, Horvath R, Chinnery PF. Hereditary myopathy with early respiratory failure is caused by mutations affecting the titin FN3 119 domain. Brain 2014: 2014 Apr;137(Pt 4):e271. PMID: Giordano C, Iommarini L, Giordano L, Maresca A, Pisano A, Valentino ML, Caporali L, Liguori R, Deceglie S, Roberti M, Fanelli F, Fracasso F, Ross-Cisneros FN, D'Adamo P, Hudson G, Pyle A, Yu-Wai-Man P, Chinnery PF, Zeviani M, Salomao SR, Berezovsky A, Belfort R Jr, Ventura DF, Moraes M, Moraes Filho M, Barboni P, Sadun F, De Negri A, Sadun AA, Tancredi A, Mancini M, d'amati G, Loguercio Polosa P, Cantatore P, Carelli V. Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. Brain Feb;137(Pt 2): PMID: Rochester L, Galna B, Lord S, Mhiripiri D, Eglon G, Chinnery PF. Gait impairment precedes clinical symptoms in spinocerebellar ataxia type 6. Movement Disorders 2014 Feb;29(2): PMID: Yu-Wai-Man P, Hudson G, Klopstock T, Chinnery PF. Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion (letter). Brain 2015: Dec 10. pii: awv340. PMID: Bargiela D, Shanmugarajah P, Lo C, Blakely E, Taylor R, Horvath R, Wharton S, Chinnery PF, Hadjivassiliou M. Mitochondrial pathology in progressive cerebellar ataxia. Cerebellum & Ataxias 2015 Dec 4;2:16. ecollection PMID: Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro- Mégy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G. Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. American Journal of Human Genetics 2015 Nov 5;97(5): PMID: P a g e

180 1175. Chinnery PF. Mitochondrial disease in adults: what s old and what s new? EMBO Molecular Medicine 2015 Nov 26;7(12): PMID: Stewart JB, Chinnery PF. The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease. Nature Reviews Genetics 2015 Aug 18;16(9): PMID: Keogh MJ, Aribisala BS, He J, Tulip E, Butteriss D, Morris C, Gorman G, Horvath R, Chinnery PF, Blamire AM. Voxel-based analysis in neuroferritinopathy expands the phenotype and determines radiological correlates of disease severity. J Neurol Jul 4. [Epub ahead of print] PMID: Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk M. TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial trna Associated with Multiple Respiratory-Chain Deficiencies. Am J Hum Genet Jul 15. [Epub ahead of print] PMID: Daud D, Griffin H, Douroudis K, Kleinle S, Eglon G, Pyle A, Chinnery PF, Horvath R. Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering. J Neurol Jul;262(7): PMID: Horvath R, Lewis-Smith D, Douroudis K, Duff J, Keogh M, Pyle A, Fletcher N, Chinnery PF. SCP2 mutations and neurodegeneration with brain iron accumulation. Neurology 2015;85(21): PMID: Tang WWC, Dietmann S, Irie N, Leitch HG, Floros VI, Hackett JA, Chinnery PF, Surani MA. A Unique Gene Regulatory Network of the Human Germline Resets the Epigenome for Development. Cell 2015; 161(6): PMID: Keogh MJ, Aribisala BS, He J, Tulip E, Butteriss D, Morris C, Gorman G, Horvath R, Chinnery PF, Blamire AM. Voxel-based analysis in neuroferritinopathy expands the phenotype and determines radiological correlates of disease severity. Journal of Neurology 2015;262(10): PMID: Martikainen MH, Chinnery PF. Mitochondrial disease: mimics and chameleons. Practical Neurology 2015;15(6): PMID: Halter JP, Schüpbach WMM, Mandel H, Casali C, Orchard K, Collin M, Valcarcel D, Rovelli A, Filosto M, Dotti MT, Marotta G, Pintos G, Barba P, Accarino A, Ferra C, Illa I, Beguin Y, Bakker JA, Boelens JJ, de Coo IFM, Fay K, Sue CM, Nachbaur D, Zoller H, Sobreira C, Pinto Simoes B, Hammans SR, Savage D, Martí R, Chinnery PF, Elhasid R, Gratwohl A, Hirano M. Allogeneic hematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy. Brain 2015; 138(Pt 10): PMID: Powell CA, Kopajtich R, D Souza A, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller R, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk M. Mutations in TRMT5 cause a defect in post-transcriptional modification of mitochondrial trna associated with multiple respiratory chain deficiencies. American Journal of Human Genetics 2015;97(2): PMID: P a g e

181 1186. Payne BA, Chinnery PF. Mitochondrial dysfunction in ageing: much progress but many unresolved questions. Biochim Biophys Acta 2015; 1847(11): PMID: Bansagi B. Griffin H, Ramesh V, Duff J, Pyle A, Chinnery PF, Horvath R. The p.ser107leu in BICD2 is a mutation hot spot causing distal spinal muscular atrophy. Brain 2015; 138(Pt 11):e391. PMID: Evangelista T, Bansagi B, Pyle A, Griffin H, Douroudis K, Polvikoski T, Antoniadi T, Bushby K, Straub V, Chinnery PF, Lochmüller H, Horvath R. Phenotypic variability of TRPV4 related neuropathies. Neuromuscul Disord Jun;25(6): PMID: Payne BA, Gardner K, Blakely EL, Maddison P, Horvath R, Taylor RW, Chinnery PF. Clinical and pathological features of mitochondrial DNA deletion disease following antiretroviral treatment. JAMA Neurol May;72(5):603-5 PMID: Horvath R, Chinnery PF. Nuclear-mitochondrial proteins: too much to process? Brain Jun;138(Pt 6): PMID: Tang WW, Dietmann S, Irie N, Leitch HG, Floros VI, Bradshaw CR, Hackett JA, Chinnery PF, Surani MA. A Unique Gene Regulatory Network Resets the Human Germline Epigenome for Development. Cell Jun 4;161(6): PMID: Payne BA, Chinnery PF. Mitochondrial dysfunction in aging: Much progress but many unresolved questions. Biochim Biophys Acta Jun 4. pii: S (15) PMID: Bansagi B, Griffin H, Ramesh V, Duff J, Pyle A, Chinnery PF, Horvath R. The p.ser107leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy. Brain Jun 10. [Epub ahead of print] PMID: Pyle A, Hudson G, Wilson IJ, Coxhead J, Smertenko T, Herbert M, Santibanez-Koref M, Chinnery PF. Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans. PLoS Genet May 14;11(5):e PMID: Keogh MJ, Steele H, Douroudis K, Pyle A, Duff J, Hussain R, Smertenko T, Griffin H, Santibanez-Koref M, Horvath R, Chinnery PF. Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia. J Neurol May 16. [Epub ahead of print] PMID: Keogh MJ, Chinnery PF. Mitochondrial DNA mutations in neurodegeneration. Biochim Biophys Acta May 23. PMID: Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. J Inherit Metab Dis May 30. [Epub ahead of print] PMID: Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, Feeney C, Horvath R, Yu-Wai-Man P, Chinnery PF, Taylor RW, Turnbull DM, McFarland R. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol May;77(5): PMID: P a g e

182 1199. Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R. Respiratory chain deficiency in nonmitochondrial disease. Neurology Genetics 2015 Apr 27;1(1):e6. PMID: Keogh MJ, Pyle A, Daud D, Griffin H, Douroudis K, Eglon G, Miller J, Horvath R, Chinnery PF. Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB. Neurology Apr 28;84(17): PMID: Pyle A, Griffin H, Keogh MJ, Horvath R, Chinnery PF. Reply: Evaluation of exome sequencing variation in undiagnosed ataxias. Brain Apr 4. pii: awv088. [Epub ahead of print] PMID: Griffin H, Pyle A, Chinnery PF. Increased yield of exome sequencing by off-target mitochondrial DNA analysis. Ann Neurol Mar;77(3):553. PMID: Pfeffer G, Pyle A, Griffin H, Miller J, Wilson V, Turnbull L, Fawcett K, Sims D, Eglon G, Hadjivassiliou M, Horvath R, Németh A, Chinnery PF. SPG7 mutations are a common cause of undiagnosed ataxia. Neurology Mar 17;84(11): PMID: Horvath R, Chinnery PF. Modifying mitochondrial trnas: delivering what the cell needs. Cell Metab Mar 3;21(3): PMID: Euro L, Konovalova S, Asin-Cayuela J, Tulinius M, Griffin H, Horvath R, Taylor RW, Chinnery PF, Schara U, Thorburn DR, Suomalainen A, Chihade J, Tyynismaa H. Structural modeling of tissue-specific mitochondrial alanyl-trna synthetase (AARS2) defects predicts differential effects on aminoacylation. Front Genet Feb 6;6:21. PMID: Gorman GS, Grady JP, Ng Y, Schaefer AM, McNally RJ, Chinnery PF, Yu-Wai-Man P, Herbert M, Taylor RW, McFarland R, Turnbull DM. Mitochondrial donation how many women could benefit? N Engl J Med Feb 26;372(9): PMID: Pyle A, Smertenko T, Bargiela D, Griffin H, Duff J, Appleton M, Douroudis K, Pfeffer G, Santibanez-Koref M, Eglon G, Yu-Wai-Man P, Ramesh V, Horvath R, Chinnery PF. Exome sequencing in undiagnosed inherited and sporadic ataxias. Brain Feb;138(Pt 2): PMID: Gorman GS, Pfeffer G, Griffin H, Blakely EL, Kurzawa-Akanbi M, Gabriel J, Sitarz K, Roberts M, Schoser B, Pyle A, Schaefer AM, McFarland R, Turnbull DM, Horvath R, Chinnery PF, Taylor RW. Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28. JAMA Neurol Jan;72(1): PMID: Payne BA, Gardner K, Coxhead J, Chinnery PF. Deep resequencing of mitochondrial DNA. Methods Mol Biol. 2015;1264: PMID: Payne BA, Cree L, Chinnery PF. Single-cell analysis of mitochondrial DNA. Methods Mol Biol. 2015;1264: PMID: Burté F, Carelli V, Chinnery PF, Yu-Wai-Man P. Disturbed mitochondrial dynamics and neurodegenerative disorders. Nat Rev Neurol Jan;11(1): PMID: Steele HE, Harris E, Barresi R, Marsh J, Beattie A, Bourke JP, Straub V, Chinnery PF. Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study. Neurology Aug 10. [Epub ahead of print]. PMID: P a g e

183 1213. Majander A, Bitner-Glindzicz M, Chan CM, Duncan HJ, Chinnery PF, Subash M, Keane PA, Webster AR, Moore AT, Michaelides M, Yu-Wai-Man P. Lamination of the outer plexiform layer in optic atrophy caused by dominant WFS1 mutations. Ophthalmology 2016 PMID: Kullar PJ, Quail J, Lindsey P, Wilson JA, Horvath R, Yu-Wai-Man P, Moore BCJ, Chinnery PF. Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction. Brain 2016 PMID: Nightingale H, Pfeffer G, Bargiela D, Horvath R, Chinnery PF. Emerging therapies for mitochondrial disorders. Brain 2016: PMID: Yu-Wai-Man P, Chinnery PF. Leber Hereditary Optic Neuropathy Oct 26 [Updated 2016 Jun 23]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; Olsen RK, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. American Journal of Human Genetics 2016 Jun 2;98(6): PMID: Metodiev MD, Thompson K, Alston CL, Morris AA, He L, Assouline Z, Rio M, Bahi- Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rötig A, Taylor RW. Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. American Journal of Human Genetics 2016 Apr 26. PMID: Martikainen MH, Ng YS, Gorman GS, Alston CL, Blakely EL, Schaefer AM, Chinnery PF, Burn DJ, Taylor RW, McFarland R, Turnbull DM. Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. JAMA Neurology 2016 Apr 25. PMID: Buret L, Rebillard G, Brun E, Angebault C, Pequignot M, Lenoir M, Do-Cruzeiro M, Tournier E, Cornille K, Saleur A, Gueguen N, Reynier P, Amati-Bonneau P, Barakat A, Blanchet C, Chinnery P, Yu-Wai-Man P, Kaplan J, Roux AF, Van Camp G, Wissinger B, Boespflug-Tanguy O, Giraudet F, Puel JL, Lenaers G, Hamel C, Delprat B, Delettre C. Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration. Cell Death Discovery 2016 Mar 7;2: PMID: Lewis-Smith D, Kamer KJ, Griffin H, Childs A-M, Pysden K, Titov D, Duff J, Pyle A, Taylor RW, Yu-Wai-Man P, Ramesh V, Horvath R, Mootha VK, Chinnery PF. Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood. Neurology Genetics 2016: 2016 Mar 3;2(2):e59. PMID: *Wilson IJ, Carling PJ, Alston CL, Floros VI, Pyle A, Hudson G, Sallevelt SCEH, Lamperti C, Carelli V, Bindoff LA, Samuels DC, Wonnapinij P, Zeviani M, Taylor RW, Smeets HJM, Horvath R, Chinnery PF. Mitochondrial DNA Sequence Characteristics Modulate the Size of the Genetic Bottleneck. Human Molecular Genetics 2016: 2016 Mar 119 P a g e

184 1;25(5): PMID: Shen L, Diroma MA, Gonzalez M, Navarro-Gomez D, Leipzig J, Lott MT, van Oven M, Wallace DC, Muraresku CC, Zolkipli-Cunningham Z, Chinnery PF, Attimonelli M, Zuchner S, Falk MJ, Gai X. MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. Human Mutation 2016 Feb 26. PMID: Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Ben Zeev B, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Häberle J, Lossos A, Mengel E, Morris A, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell A, Sperl W, Spiekerkötter U, Steinmann B, Tadeucci G, Trejo J, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow J-C, Walker V, Zeman J, Baumgartner MR, Fowler D. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. Journal of Inherited Metabolic Disease 2016; 39(1): PMID: Kullar P, Alston CL, Ball S, Blakely EL, Differ AM, Fratter C, Sweeney MG, Taylor RW, Chinnery PF. The frequency of the m.1555a>g (MTRNR1) variant in UK patients with suspected mitochondrial deafness. Hearing Balance Communication 2016;14(2): PMID: P a g e

185 Appendix 5. Host support letters and Scientific Advisory Board membership and reports 1 P a g e

186 UCL FACULTY OF BRAIN SCIENCES FACULTY OFFICE Dr Catherine Moody Programme Manager for Neurodegenerative Diseases Medical Research Council 14th floor One Kemble Street London WC2B 4AN 7 th October 2016 Dear Catherine, Re MRC Centre Mid-term report and future plans I am writing to confirm UCL s strongest support for the MRC Centre and the future vision as outlined in Professor Hanna s mid-term report. There can be little doubt that the MRC Centre has had a genuinely transformational effect on advancing knowledge and breaking down translational barriers for patients with neuromuscular diseases. The partnership between UCL and Newcastle has been impressively successful and has underpinned the creation of an effective experimental medicine platform that has delivered many natural history studies and experimental trials. This partnership is of national importance for this area of neuroscience and is internationally leading as confirmed by Dr Griggs (chair of the SAB) letter. UCL is committed to this area of Neuroscience and has invested significantly in recent years to further strengthen the work of the MRC Centre. This includes over 24m in new salaries and direct costs since Recruitments include Francesco Muntoni and Jenny Morgan in 2009; more recently Thomas Voit has joined us from the Institute of Myology Paris and Gipi Schiavo from CRUK. There are also notable recruits in Newcastle including Avan Sayer. The critical mass of paediatric and adult expertise in this area at UCL is now one of the strongest in the world and when combined with the expertise in Newcastle is truly world leading. Indeed, in each University, steps have been taken to establish Neuromuscular Disease research fully in the departmental structure. In Newcastle the John Walton Centre for Muscular Dystrophy has been established; in UCL a new Department of Neuromuscular Disease will be established. UCL School of Life and Medical Sciences, 1A Maple House, 149 Tottenham Court Road, London W1T 7NF Tel: +44 (0) alan.thompson@ucl.ac.uk Fax: +44 (0)

187 During the life of the MRC Centre, and partly as a result of its contribution, the field has advanced very rapidly indeed. Most genes have now been discovered (41 by the MRC Centre in the last 3 years) and clear targets for therapy identified. Neuromuscular Diseases is one area of neuroscience where translation to new therapies is realistic in the next 5 years. MRC Centre investigators have started to lead therapy development with successful FDA licensing of gene therapy in Duchenne and repurposing in channelopathies. The potential of this group to bring their expertise to the development of new therapies across a much wider range of neuromuscular diseases is now clear, and with the right support they are poised to be world leading and to have major impact in therapy development. Importantly, UCL has made a recent major investment in drug discovery capability [over 12m, including a 10m award from ARUK direct costs and space] by establishing the ARUK UCL Drug Discovery Institute to pursue therapies for Dementia. However, the critical mass of drug discovery capability including medicinal chemistry represents a major opportunity to develop neuromuscular disease therapies with additional appropriate investment to enable connectivity. UCL therefore fully endorses the vision outlined in the mid-term report and strongly supported by the MRC Centre international SAB to establish a radical new centre. The new centre will create new core capabilities in preclinical modelling (IPSc/gene editing), in drug discovery, in advanced biomarker programmes and in bioinformatics capability that will enable progress to therapies across many neuromuscular disease targets. Such a new centre would sit alongside the successful platforms established by the current Centre and which would no longer be funded by the MRC. It would undoubtedly also be a beacon of excellence for translational PhD training. Furthermore, developing new therapies through experimental medicine is a major part of the Faculty of Brain Sciences strategic plan and complements the recently renewed Great Ormond Street and UCLH Biomedical Research Centres. The MRC Centre team are clearly poised to make major progress to therapies over the next five years and UCL will very strongly support pursuing this vision in partnership with the MRC in a new Centre. Yours sincerely PROFESSOR ALAN THOMPSON FMEDSCI, FRCP, FRCPI DEAN, UCL FACULTY OF BRAIN SCIENCES

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191 List of SAB meetings 14 th Nov 2014 (report below) 21 Nov th Nov P a g e

192 SAB Report Report from SAB meeting P a g e

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197 SAB membership Robert Griggs Professor of Neurology, Medicine, Pathology and Laboratory Medicine and Pediatrics at the University of Rochester School of Medicine and Dentistry. Chair of the Department of Neurology and Neurologist-in-Chief at Strong Memorial Hospital President of the American Academy of Neurology ( ). Dr. Griggs is an internist/neurologist specialising in neuromuscular diseases with a focus on experimental therapeutics. He has directed an NIH-funded training programme in the Experimental Therapeutics of Neurological Disease since He has published over 400 scientific papers and 26 texts which span the fields of medicine and neurology. He served as President of the Association of University Professor of Neurology ( ). He has served on the Council of the American Neurological Association. He served as Editor-in-Chief of Neurology ( ). He is Neurology Editor of Cecil Textbook of Medicine and an Editor of Cecil Essentials of Medicine. Dr. Griggs has received numerous awards for teaching including the American Academy of Neurology A.B. Baker Award and Lecture for Excellence in Teaching. He directed the educational programs of the AAN from In 1998 he received the Robert Wartenberg Award and Lectureship of the AAN. In 2004 he delivered the Soriano Lectureship of the American Neurological Association. He was elected to the National Academy of Medicine in Dr. Griggs established and chaired the Executive Committee of the Muscle Study Group (MSG) ( ), an international consortium of investigators focused on developing new treatments for neuromuscular disease. The MSG ( is supported by grants from the National Institute of Health, industry, and a number of foundations. Dr. Griggs serves on the Board of Directors of the American Society for NeuroTherapeutics (ASENT) and on the Editorial Board of NeuroTherapeutics. Dr. Griggs grants are focused on developing treatments for neuromuscular channelopathies and muscular dystrophies. Rick J. Barohn Chairman, Department of Neurology, Gertrude and Dewey Ziegler Professor of Neurology University Distinguished Professor, Vice Chancellor for Research, President, KUMC Research Institute, University of Kansas Medical Center 13 P a g e

198 Dr. Richard J. Barohn is Chairman of the Department of Neurology and Vice Chancellor for Research at the University of Kansas Medical Center in Kansas City. He is also the Gertrude and Dewey Ziegler Professor of Neurology, and University Distinguished Professor, and the President of the Research Institute. Dr. Barohn has served on the national medical advisory boards for the Myasthenia Gravis Foundation and the Guillain-Barre Syndrome Foundation International and The Myositis Association. He was the recipient of the 2000 Alumni Achievement Award for Medicine from the University of Missouri - Kansas City and the University of Kansas Chancellor s Club Research Award in He became a KU University Distinguished Professor in He was appointed Vice Chancellor for Research for KUMC and President of the Research Institute. In this role he is the chief administrator for all KUMC grants, and he controls over 120 million dollars annually of research funds. As chair of the Department of Neurology at KUMC, he also serves as the CEO of Kansas University Neurological Foundation and manages a financial portfolio that involves research and clinical revenue of more than $20 million annually. His present research focuses on myopathies (such as polymyositis and muscular dystrophy), motor neuron disease (such as amyotrophic lateral sclerosis), peripheral neuropathies, and myasthenia gravis. He has developed a number of endpoint scales in neuromuscular disease that have been used in many clinical trials. He was the lead principal investigator of the multi-center study of mexiletine in nondystrophic myotonia that was published in JAMA. He has led or leads several multicenter international trials (methotrexate for myasthenia gravis, rasagiline for ALS, memantine for ALS and arimoclomol for IBM). He leads a 40 site comparative effectiveness study of drugs for painful neuropathy funded by PCORI and he is the leader of the rare disease program in the Greater Plains Collaborative PCORnet. He is the principal investigator on the NIH Clinical and Translational Science Award and the NeuroNEXT grant at KUMC. He is the Director of Frontiers: The Heartland Institute for Clinical and Translational Research. He has served on the editorial board for Neurology and is the Associate Editor for the Journal of Clinical Neuromuscular Disorders. He was the Founding Chair of the Section of Neuromuscular Disease in the American Academy of Neurology. Eric P. Hoffman Director of the Center for Genetic Medicine Research at Children s National Medical Center Professor and Chair of the Department of Integrative Systems Biology at George Washington University, Washington DC Dr. Hoffman is a human geneticist and translational researcher focused on neuromuscular disease, and skeletal muscle tissue in health and disease. His most recent efforts focus on drug development and clinical trials in Duchenne muscular dystrophy. He received his PhD in Drosophila molecular genetics from Johns Hopkins University, then carried out a post-doctoral fellowship at Boston Children s Hospital and Harvard Medical School working on the identification of the DMD gene and protein. His current academic positions are Associate Dean for Research, School of 14 P a g e

199 Pharmacy and Pharmaceutical Sciences, Binghamton University SUNY, where he is building a research program focused on facilitating drug development at the academic/industry interface. In the private sector, he is co-founder and CEO of ReveraGen Biopharma, co-founder and Vice President of AGADA Biosciences, and co-founder and President of TRiNDS LLC. He serves on Scientific Advisory Boards of Foundation to Eradicate Duchenne, CureDuchenne Foundation, C3 Foundation, Save Our Sons Foundation, and Duchenne UK. Research accomplishments include identification of the dystrophin protein, and defining its deficiency in DMD patient muscle, mdx mouse, dog and cat models. His lab identified initial voltage sensitive ion channel mutations in human disease, and genetic causes of recurrent pregnancy loss. He is an inventor on nine patents, and has authored over 500 publications. Dr John Porter Chief Science Officer Myotonic Dystrophy Foundation Dr. Porter is Chief Science Officer for the Myotonic Dystrophy Foundation (MDF). He leads the development and implementation of the Foundation s drug development and research agenda while positioning MDF as a knowledge center and resource for myotonic dystrophy care and treatment development science. Over his academic research career ( ), Dr. Porter ran an NIH- and foundation-funded research program focusing on extraocular muscle biology in health and disease, including the mechanisms responsible for its novel responses to a variety of neuromuscular disorders. While at the U.S. National Institutes of Health (NINDS/NIH), from , he managed research grant funding that included diseases affecting the motoneuron, neuromuscular junction, nerve, and skeletal muscle. During this time he helped facilitate team science and partnerships across academia, biotech and pharmaceutical companies, advocacy groups, and government, to foster translational research in neuromuscular disorders. Dr. Porter also helped advance rigorous design, implementation, and analysis of preclinical therapy development studies, a focus now wellengrained in NIH grant review standards. He also has served as CEO for Parent Project Muscular Dystrophy, a Duchenne patient advocacy organization. Dr. Porter served a 10-year term as Executive Secretary for the interagency Muscular Dystrophy Coordinating Committee and has served on advisory boards for a variety of companies, publishers, foundations, government agencies, and academic organizations. He continues to consult for neuromuscular disease research and development organizations and companies. Louis Ptacek Distinguished Professor, Department of Neurology University of California, San Francisco 15 P a g e

200 Dr. Ptácek is the Coleman Distinguished Professor of Neurology. He is a neurologist, human geneticist, and cell and molecular neuroscientist at UCSF. His laboratory focuses on genetic diseases of muscle, heart and brain and hereditary variation of human sleep behavior. His group has cloned genes causing many disease and behavioral phenotypes in humans. In addition, he and collaborators probe normal function of the encoded proteins in nervous system and pathophysiology of mutant proteins in human diseases using cellular electrophysiology, biochemistry, cell biology and animal modeling. Study of these single gene disorders is offering clues to susceptibility genes that may contribute to 'risk' of more common and genetically complex phenotypes like epilepsy, migraine, and normal sleep variation in the population. One focus of his work is episodic neurological diseases. He pioneered the field of Channelopathies that began with the mapping and cloning of a number of genes causing periodic paralysis and nondystrophic myotonias, symptoms that he proposed as a model for other electrical disorders such as epilepsy, and migraine. He and collaborators identified and characterized the first human families with a Mendelian circadian rhythm variant. These individuals have an extreme "morning lark" phenotype. His group and that of Ying-Hui Fu have gone from the clinical and physiologic characterization of this phenotype to the mapping and cloning of causative genes, biochemical study of the encoded proteins, and generation of animal models. They have collected many families with FASPS and these are being studied to identify additional human circadian rhythm genes. This work represents a move from purely disease genetics to the genetics of human behavior. Insights into the proteins causing these disorders and traits will ultimately lead to new insights into the normal function of the human nervous system and mechanisms of disease. Ultimately, such insights will lead to new therapies for treating patients with various neurological disorders. Ptacek has been elected to the American Academy of Arts and Sciences, the National Academy of Medicine, and the National Academy of Sciences. Mike Shy Professor of Neurology, Pediatrics and Physiology Director of CMT Program Co-Director of Neuromuscular Division Co-Director of Neurogenetics Carver College of Medicine, University of Iowa 16 P a g e

201 Michael Shy is an internationally recognized expert in the inherited peripheral neuropathies collectively known as Charcot Marie Tooth disease (CMT). He received his BA at the University of Pennsylvania and his MD from Albany Medical College in Albany New York. Dr. Shy did his Neurology training and a fellowship at the Neurological Institute of the Columbia Presbyterian Medical Center in New York City. He was previously on the faculty of the Thomas Jefferson University in Philadelphia prior to Wayne State University in 1994, and moved to the University of Iowa in Dr Shy s research is funded by the National Institutes of Health, the Muscular Dystrophy Association and the Charcot Marie Tooth Association. Dr. Shy serves as the Chair of the Scientific Advisory Board of the Charcot Marie Tooth Association (CMTA) and also co-chairs the Star initiative of the CMTA that is directed towards identifying novel therapies for various forms of CMT. Dr. Shy serves on the Medical Advisory Board of the Muscular Dystrophy Association and also on the national committee of the MDA to develop transitional care for children developing into adulthood with neuromuscular disease. Dr. Shy directs the NIH supported Rare Disease Clinical Research Consortium (RDCRC) on inherited neuropathies. He is also PI of the North American CMT Network, supprted by the MDA and CMTA and previously served as President of the Peripheral Nerve Society (PNS). He has published more than 100 articles, chapters and reviews, particularly on the inherited neuropathies. Vincent Timmerman Peripheral Neuropathy VIB Department of Molecular Genetics, University of Antwerp The peripheral nervous system (PNS) exchanges motor, sensory and autonomic information between the central nervous system (CNS) and the limbs, organs and tissues. A series of biological and environmental conditions, such as genetic mutations, chemical stress, infections or metabolic insults, can lead to axonal loss and demyelination, the pathological hallmarks of peripheral nerve degeneration. Moreover, degeneration of peripheral nerves is accompanied by a local activation of the immune system. The Peripheral Neuropathy Group aims at understanding the delicate balance between peripheral nerve homeostasis and degeneration by using two paradigms: 1. How do genetic mutations lead to peripheral nerve degeneration, and 2. What is the role of the innate immune system in nerve protection? Inherited peripheral neuropathies (IPN) are caused by a length-dependent degeneration of peripheral nerves, resulting in progressive weakness in the limbs, wasting of foot and hand muscles as well as distal sensory loss. Charcot-Marie-Tooth (CMT) disease is the most common IPN with a prevalence of 1/2500. Over the years, our lab has become one of the main CMT research centers in the world; overall, 1/4 of the 60 IPN disease causing genes were found within our team or via 17 P a g e

202 international collaborations. Not surprisingly, many of these genes encode proteins that are involved in myelination and maintenance of the peripheral nerve. However, also ubiquitously expressed genes with basic tasks in every cell were found to specifically cause peripheral nerve degeneration. Since the identification of a disease-associated gene is only a first step in unravelling the disease pathomechanism, we wanted to go further and aim to understand the functional consequences of the pathogenic mutations. We chose to focus on ubiquitously expressed genes that our lab identified to be causative for CMT. We aim to unravel the unique properties of these proteins in peripheral nerve biology as well as explore how these properties are affected upon mutation. To this end, we developed cellular (sensory and motor neurons or Schwann cells) and animal model systems. We are not only investigating the impact of disease-causing mutations on the wellestablished functions of these proteins, but additionally try to identify novel (potentially neurospecific) pathways in which these proteins might be involved by undertaking large scale approaches. Our gene-driven approach is further complemented by a second research line, which aims to identify the role of the innate immune system in neuroprotection and -degeneration. Understanding how this balance is controlled might allow us to fine-tune or even stimulate an inherent neuroprotective response. We strongly believe that our research strategy can contribute to the development of novel treatment strategies for CMT patients. The on-site interaction between neurologists, molecular geneticists and cell biologists places our lab in a privileged position: it ensures access to patient material, and also allows us to couple back our findings in the lab with clinical data. We also maintain contacts with the International CMT Consortium by co-organising meetings and workshops. Biography PhD: Univ. of Antwerp, Antwerp, Belgium, 1993 VIB Group leader since 1999 Associate Professor, Univ. of Antwerp since 2002 Professor, Univ. of Antwerp since 2008 Full Professor, University of Antwerp since 2012 Silvère van der Maarel Head of Department of Human Genetics Leiden University Medical Center LUMC, The Netherlands Prof. Dr. Ir. Silvère van der Maarel was trained as a Human Geneticist at the Radboud University Nijmegen Medical Centerin the Netherlands. He continued to work on the positional cloning of X- linked disease genes at the Max Planck Institute of Molecular Biology in Berlin,Germany. In 1997, Silvère van der Maarel joined the Department of Human Genetics in Leiden(LUMC, the Netherlands). In 2006, he was appointed Professor of Medical Epigenetics and from 2012 he is chairing the Department of Human Genetics at the LUMC. 18 P a g e

203 Prof. van der Maarel s scientific interests focus on the genetic and epigenetic regulation of repetitive DNA in the human genome in relation to disease. His main interest is the genetic and epigenetic basis of facioscapulohumeral muscular dystrophy (FSHD), an adult muscle disease caused by genetic and epigenetic changes in a repetitive DNA structure on the tip of the long arm of chromosome 4. He also made contributions to other muscular dystrophies including OPMD and LGMD. Leiden University Medical Center (LUMC) Department of Human Genetics S.M.van_der_Maarel@lumc.nl LUMC Human Genetics LUMC Prof. S.M. van der Maarel Steve Waxman Bridget Marie Flaherty Professor of Neurology, Neurobiology and Pharmacology; Director, Center for Neuroscience & Regeneration/Neurorehabilitation Research; Yale University School of Medicine & VA Connecticut Stephen Waxman, M.D., Ph.D. exemplifies the bridge between basic research and clinical medicine. He is the Bridget Marie Flaherty Professor of Neurology, Neurobiology, and Pharmacology at Yale University and is the Director of the Neuroscience and Regeneration Research Center, a multidisciplinary research institute established collaboratively by Yale University, the Department of Veterans Affairs, and the Paralyzed Veterans of America. Dr. Waxman served as Chairman of Neurology at Yale from 1986 until He is also Visiting Professor at University College London and the Institute of Neurology, London. He is Co-Director of the Yale-London Collaboration on CNS Repair. Dr. Waxman received his BA from Harvard, and his MD and PhD degrees (1970, 1972) from Albert Einstein College of Medicine. Following Neurology Residency at Boston City Hospital/Harvard Medical School ( ), he held faculty appointments at Harvard Medical School, MIT, and Stanford University, prior to moving to Yale in Dr. Waxman has received international recognition for his research, which focuses molecular techniques on the nervous system, with the goal of finding new therapies that will promote recovery of function after injury to the brain, spinal cord, and peripheral nerves. Dr. Waxman has published more than 600 scientific papers, has authored the clinical text Spinal Cord Compression, and has edited eight books. He has served on the editorial boards of many journals including Brain, Annals of Neurology, Trends in Neurosciences, Nature Clinical Neurology, and Trends in Molecular Medicine, and he serves as Editor of The Journal of Physiology and as Editor-in-Chief of Neuroscience Letters. Dr. Waxman has trained more than one hundred and fifty academic neurologists and neuroscientists who work at institutions around the world. A member of the Institute of Medicine of the National Academy of Sciences, Dr. Waxman s many awards include the Tuve Award from NIH, the Distinguished Alumnus Award from Albert Einstein 19 P a g e

204 College of Medicine, the Reingold Award from the National MS Society, and the Dystel Prize and the Wartenberg Award from the American Academy of Neurology, and the Soriano Award from the American Neurological Association. 20 P a g e

205 Appendix 6. Training report and list of current Centre students, project title, supervisor and funding MRC Centre PhD and Education Programme UCL Lead: Mary Reilly, NCL Lead: Rita Horvath The cornerstone of our training programme is our MRC Centre non-clinical and clinical PhD programme where all PhDs undertaken, whether clinical or non-clinical, are aligned with our five MRC Centre key disease themes. 4 year non-clinical PhD programme UCL: In UCL for the first year, the students have an induction programme including attending clinics to see patients and have a series of lectures focused on neuromuscular diseases. Following induction, in the first year at UCL, the students rotate three-monthly through three PI laboratories of their choice. Following this rotation the students select their preferred project for their PhD. During the year the students have regular teaching, lectures and seminars. NCL: In the first year in the four-year non-clinical PhD programme in NCL, the students undertake a Masters by Research (MRes) Neuromuscular Diseases Bench to Bedside which has been developed by the MRC neuromuscular group in NCL utilising the skills and knowledge of the neuromuscular staff and selected pre-eminent colleagues. The course covers the entire breadth of translational science in neuromuscular diseases, from the basic physiology of muscle and neuromuscular transmission, through basic science models, clinical diagnostics, experimental therapeutics to clinical trials and patient benefit. 3 year Clinical PhD programme In the 3 year clinical PhD programme the students undertake either a laboratory or clinical translational (e.g. development of MRI) project together with a significant clinical component (e.g. clinical trial, natural history study). Highlights of the programme include i) the opportunity to attend our annual four day neuromuscular course in ION, ii) all students have to present their work by poster and in some cases by platform presentations at our annual MRC Centre Neuromuscular Translational Research Conference and iii) a yearly students retreat that the students organise and run once a year which has proved very popular and educational. In addition, all students are encouraged to attend the multiple scientific educational opportunities in the Centre including monthly MRC seminar series with invited international speakers (also available as web-seminars), regular journal clubs, departmental research meetings and seminars, subject specific workshops and conferences. Metrics of MRC Centre PhD programme As shown in the table below, we were awarded 16 four-year non clinical, four three-year clinical and 13 one-year clinical pump priming posts in the renewed Centre. These posts were equally funded by the MRC and by the host universities UCL and NCL. By 2015, as planned we had appointed to all posts (Table 1). In the renewed Centre the MRC were keen we appointed clinical fellows for one year (pump priming posts) and that they would then be encouraged to apply for their own MRC training fellowships which are very prestigious and competitive. This became difficult to do as the training system for specialist registrars (SPRs) in neurology in the UK changed in 2013 so that SPRs had to take the full three years off for a predetermined period so the flexibility of the one year posts was not possible. To overcome this we have introduced a system where we appoint clinical PhDs for three years (using a mixed funding model with MRC, host university and other funders) but after 1 year the students have to apply for a MRC training fellowship if they are doing an appropriate project. This model allows recycling of the MRC funding and has been very effective in allowing us to attract and appoint the best PhD students. Four of our appointed clinical PhD students (Maiya Kugathasan, Karen Suetterlin, Helen Devine and Claire Wood) have successfully 1 P a g e

206 obtained MRC three-year MRC training fellowships following an initial period of MRC Centre funding. Table 1: MRC Centre Studentships from February 2013 Studentships awarded Appointed in Centre Renewal 2013 Non Clinical 4 year Non-clinical PhD (4 yrs.) posts UCL 5 (2013) 1/5** UCL 9 UCL 2 (2014) NCL 7 UCL 3 (2015) NCL 4 (2013) Clinical posts * 12 yrs (4x3year) 13 yrs (13x1year) NCL 3 (2014) Appointed Clinical PhD posts** UCL 4 (2013) NCL 4 (2014) UCL 2 (2015) *years appointed; **alternative funding also used To be appointed None None A further training aim in the MRC Centre renewal was to work with industry to develop joint MRC Centre /industry PhD studentships (CASE studentships). We have successfully done this with GSK and have appointed one CASE studentships in MRI neuromuscular diseases, who started in We train many other students, post docs and senior fellows in the MRC Centre who are funded by sources other than the MRC but who benefit from the educational and training opportunities in the MRC Centre. Post PhD mentoring and career progression One of the most important aims of the MRC Centre is to train clinical and non-clinical neuromuscular scientists to develop a critical mass of researchers and clinicians in the UK for the future. We therefore provide ongoing mentoring and career advice for our PhD students and carefully monitor career progression post PhD. Table 2 lists the post-phd destinations of all the clinical and non-clinical PhD students for the first 5 year grant cycle ( ). To date we have been very successful at helping our trainees secure further positions in neuromuscular diseases. Most of our trainees are either in post-doctoral positions in neuromuscular diseases or are clinical trainees or consultants in neuromuscular diseases. One of our non-clinical PhDs is now doing a medical degree and one is a bioinformatician. A further training aim in the MRC Centre renewal was to work with industry to develop joint MRC Centre / industry PhD studentships (CASE studentships). We have successfully done this with GSK and have appointed a CASE studentship in MRI neuromuscular diseases, who started in Table 2: MRC Students next destination PhD Dates next destination MRC Centre Non-Clinical PhD students, UCL Dr Mhoriam Ahmed Neuromuscular Post-Doc, UCL Institute of Neurology Dr Alex Clark ips Post-Doc, Division of Clinical Neurology, University of Oxford Dr Amy Innes Postgraduate MBBS, St George s University of London 2 P a g e

207 Dr Phil McGoldrick Neuromuscular Post-Doc, University of Toronto Dr Alice Neal Post-Doc, Ludwig Cancer Research, University of Oxford MRC Centre Clinical PhD students, UCL Dr Adrian Miller Neurology SpR training, London Dr Jasper Morrow Consultant Neurologist, National Hospital for Neurology & Neurosurgery, & The Lister Hospital, Stevenage MRC Centre Non-Clinical PhD students, Newcastle Dr Alastair Wood Neuromuscular Post-Doc, Australian Regenerative Medicine Institute, Monash University, Western Australia Dr Sally Spendiff Neuromuscular Post-Doc, McGill University, Montreal, Canada Dr Kieren Lythgow Bioinformatician, Public Health England Other MRC Centre educational activities The MRC Centre provides an ongoing extensive portfolio of educational and training opportunities. Particular highlights include: The yearly MRC Centre UK Translational Research Conference. This conference organised jointly by the MRC Centre and the charity Muscular Dystrophy Campaign (MDC) has become the main neuromuscular meeting in the UK with an average of 220 participants yearly. This is a particular highlight for our students and senior fellows and post docs who get to present their research findings yearly. We have made this meeting truly national by alternating the meeting between London, Newcastle and Oxford. We run a very popular and successful four-day neuromuscular course which is a comprehensive update covering all neuromuscular diseases in UCL yearly and which attracts about 100 attendees annually, many of whom are international. 3 P a g e

208 Year 1 clinical Enrico Bugiardini Start Date: June 2016 PhD Project Title: Clinical, functional and genetic characterization of mitochondrial diseases Supervisors: Professor Mike Hanna, Professor Henry Houlden Funding source: NCG Length of studentship: 3 years Project Description: Mitochondrial diseases are a group of conditions caused by a dysfunction of the mitochondrial respiratory chain, which is under the dual control of nuclear, and mitochondrial DNA (mtdna). Mutation of either the nuclear or the mitochondrial genome may cause mitochondrial disease. In recent years several nuclear genes have been associated with mitochondrial function and diseases but there are still several patients without a genetic diagnosis. My main project is focused on studying those patients who still do not have a diagnosis and applying next generation sequencing techniques (genes panel or exome sequencing). The first step will be the identification of new genes causing mitochondrial disease or new clinical manifestations of known genes. This will have a direct clinical benefit for the patient in terms of management and genetic counselling. The second step will be studying the mechanism underlying the mitochondrial damage caused by those nuclear genes. A better understanding of mitochondrial function/dysfunction holds the clue for future therapy focused on restoring mitochondrial efficiency. As mitochondrial disease often presents with muscle symptoms I will extend the analysis to patients affected by muscle diseases. Finally as well as the genetic studies I am involved in a clinical study through the MRC Centre Mitochondrial Disease Patient Cohort. This represents a national registry containing all the clinical, genetic and demographic information of patients affected by mitochondrial disease in UK. I am directly involved in the collection and analysis of data of patients belonging to the London site. One specific study that is ongoing is evaluating the cause of death in patients with mitochondrial diseases. A better understanding of this may have direct implication on clinical management of people affected by mitochondrial diseases. Significant Publications: Long-term Safety and Efficacy of Mexiletine for Patients with Skeletal Muscle Channelopathies. JAMA Neurol Dec 1;72(12): PMID: Suetterlin KJ, Bugiardini E, Kaski JP, Morrow JM, Matthews E, Hanna MG, Fialho 4 P a g e

209 Joana Domingos Start Date: September 2015 PhD Project Title: Biomarkers of Duchenne muscular dystrophy disease progression Supervisors: Professor Francesco Muntoni, Professor Jennifer Morgan Funding source: GOSH BRC (Host matched funding) Length of studentship: 3 years Project Description: Duchenne Muscular Dystrophy (DMD) is a life-limiting X-linked inherited muscle disorder that occurs as a result of loss of function mutations in the dystrophin gene. There is a well-known clinical variability that not only affects counselling of individual patients and standards of care, but also clinical trial design and assessment of clinical efficacy in small cohorts of patients recruited into experimental therapeutic trials. This is compounded by the relative rarity of DMD, and the complexity of running large clinical trials. In this context, the identification and validation of new DMD biomarkers is becoming increasingly important. Recently, candidate genetic disease-modifier Single Nucleotide Polymorphisms (SNPs) such as SPP1 and LTBP4 have been described in different cohorts of DMD patients. Other SNPs have been recently identified by our group as part of an EU funded biomarker discovery project, Bio-NMD ( but have not been validated yet in larger patient populations. In broad terms, the aim of this project is to contribute to a better understanding and characterization of the biomarkers that might influence disease progression in DMD. In particular, we aim to validate the previously described genetic biomarkers and potentially identify new ones in relation to motor and cardiac function. Another step forward would be to carry out functional studies on the SNPs of interest identified and validated in the DMD cohort, so that we could contribute to further elucidate DMD pathophysiology. Kate Maresh Start Date: April 2016 PhD Project Title: Deep phenotyping of the central nervous system in dystrophinopathies Supervisor: Professor Francesco Muntoni Funding source: MRC Centre Grant Length of studentship: 3 years Project Description: 5 P a g e

210 Duchenne muscular dystrophy (DMD) and its milder allelic variant, Becker muscular dystrophy (BMD), are X-linked neuromuscular conditions caused by mutations in the DMD gene. In DMD, a lack of dystrophin leads to progressive muscle inflammation and damage, and many patients also exhibit symptoms related to central nervous system (CNS) dysfunction, including non-progressive learning difficulties, attention deficit disorder, anxiety and autism. The function of dystrophin in the brain is not known. The dystrophin gene contains 7 promoter regions, each coding for different tissue-specific dystrophin isoforms. Full length dystrophin (Dp427) is expressed in muscle, brain and cerebellar Purkinje cells, and a number of shorter isoforms are also specifically expressed in the central nervous system (CNS). Mutations which lead to loss of the shortest isoforms correlate with increased cognitive impairment in DMD, but the genotype-phenotype association is less clear in BMD and in other aspects of CNS function. A mouse model of DMD (mdx mouse), which lacks the full-length Dp427 isoform of dystrophin, exhibits enhanced defensive behaviour and freezing response. Dp427 localises to the postsynaptic region of GABA-ergic neurons in the mouse, and in the mdx mouse there is impaired GABA-ergic signaling in the amygdala, which is involved in the fear response. These behaviours in the mouse have been improved in mdx mice treated with exon-skipping antisense oligonucleotide treatments, suggesting that at least some of the CNS effects of lack of dystrophin may be reversible. I will conduct deep-phenotyping of the CNS phenotype in DMD and the milder allelic Becker muscular dystrophy (BMD) variant patients with the following aims: - to develop a standardised testing protocol of neuropsychology tests to be used in DMD & BMD - to perform structural and functional brain MRI and electroretinography (ERG) studies in a subset of patients - to correlate the findings of these studies with the location of the dystrophin mutations in a phenotype-genotype analysis Year 2 non-clinical Benjamin O Callaghan Start Date: September 2015 PhD Project Title: The impact of mitochondrial impairment on histone acetylation profiles Supervisors: Professor Henry Houlden, Professor Jenny Morgan Funding source: UCL matched funding (MRC Centre Grant) Length of studentship: 4 years Project Description: During my first 3 month rotation I looked at the effect mutations in mitochondrial DNA have on the differentiation of induced pluripotent stem cells (IPSCs) into myotubes. Mitochondrial diseases are a heterogeneous group of disorders caused by genetic dysfunction of mitochondrial oxidative phosphorylation. IPSCs derived from mitochondrial disease patients and appropriate differentiation towards affected cell types (e.g. muscle and neurons) represents an excellent model to explore disease mechanisms for novel targeted therapeutic intervention. Mutations in a potassium channel gene KCNJ18 have recently been associated with TPP however this has been disputed due to the high prevalence in healthy control individuals. During my second rotation I looked into the genetics of TPP with particular focus on KCNJ18 and the closely related KCNJ12 genes. 6 P a g e

211 Environmental stressors are thought to play an important role in the initiation and progression of amyotrophic lateral sclerosis (ALS). Recent evidence has revealed that stress granules might represent a focal point linking external stress with genetic susceptibility. During my final 3 month rotation I have been optimising an in vitro model of motor neuron injury to investigate the cellular localisation of RNA-binding proteins associated with ALS. Benjamin Clarke Start Date: September 2015 PhD Project Title: The role of the heat shock response in mitochondrial dysfunction in motor neuron disease Funding source: UCL matched funding (MRC Centre Grant) Length of studentship: 4 years Project Supervisors: Dr Bernadett Kalmar, Prof Linda Greensmith Project description: Mitochondrial dysfunction has been implicated in contributing to the death of motor neurons in Amyotrophic lateral sclerosis (ALS). Heat shock proteins are a family of pro-survival chaperones known to possess anti-aggregation and anti-apoptotic capabilities which aid motor neuron survival. Several heat shock proteins localise to mitochondria although their roles in motor neurons are not fully understood. My PhD project will investigate the importance of heat shock proteins to mitochondrial dysfunction in models of ALS and attempt to ameliorate mitochondrial dysfunction through the pharmacological upregulation of heat shock proteins. Verna Sarajarvi Start Date: September 2015 PhD Project Title: Investigating cellular pathomechanisms of Charcot-Marie-Tooth disease Funding source: UCL matched funding (MRC Centre Grant) Length of studentship: 4 years Project Supervisors: Dr Bernadett Kalmar, Prof Mary Reilly Project description: I carried out my first rotation project at the UCL Institute of Child Health in Professor Francesco Muntoni's group. The project was aimed at developing a gene therapy approach for Hereditary Sensory Neuropathy type 1. During my second rotation project I was investigating mitochondrial diseases in Professor Michael Duchen's laboratory. I completed my third and final rotation project in Professor Linda Greensmith's group studying the pathomechanisms of axonal Charcot-Marie-Tooth disease. 7 P a g e

212 Hadil Alrohaif Start date: September 2015 MD Project title: Next generation sequencing in diagnostics and disease gene discovery: A systematic assessment of integrated genomic platforms in rare neuro-genetic disease Supervisors: Professor Hanns Lochmüller, Dr Ana Topf, Rachel Thompson Funding source: Kuwaiti Government Length of studentship: 3 years Project description: This project will take a systematic bioinformatics approach in evaluating three integrated genomic platforms used in prioritising genes and variants from next generation sequencing (NGS) projects in neurogenetic disease. Up to 1,000 WES/WGS datasets will be available for analysis, on at least two platforms each. These platforms, namely: RD-Connect (CNAG, Barcelona, academic), Seqr(Broad Institute, Boston, academic) and Clinical Sequence Analyser (WuXi NextCODE, commercial), will be initially assessed for sensitivity, specificity and diagnostic yield of solved and unsolved cases. An indepth analysis of VCF filtering algorithms, variant annotation, user filtering options, and integration with relevant genomic, phenotypic and bioinformatics applications will be carried out and compared across platforms. Findings will be used in an attempt to further develop diagnostics and disease gene discovery in rare neurological disease. My hypothesis is that through standardization of the bioinformatics pipeline, integration of machine-readable deep phenotypic information, and matchmaking the number of correctly solved cases can be increased. In addition, the comparison between platforms will reveal strengths and weaknesses which may aid developers to design and implement improvements. Year 2 Clinical Olivia Poole Start Date: August 2015 PhD Project Title: Mitochondrial disease: clinical studies and molecular mechanisms Supervisors: Professor Mike Hanna, Dr Rob Pitceathly Funding source: Lily Foundation Length of studentship: 3 years Project Description: 8 P a g e

213 Mitochondrial diseases encompass a phenotypically, biochemically and genetically heterogeneous group of disorders caused by impaired oxidative phosphorylation. Their complexity is, in part, related to the dual genomic expression of mitochondrial proteins which are encoded by both nuclear and mitochondrial DNA. The main aim of my project is to identify novel nuclear genes underpinning mitochondrial dysfunction, using next generation sequencing technology, and to characterise the pathological effects of these mutations using functional studies. My research will also evaluate the clinical impact of mitochondrial disease on organ function Significant Publications: Poole, O. V., Hanna, M. G., & Pitceathly, R. D. (2015). Mitochondrial Disorders: Disease Mechanisms and Therapeutic Approaches. Discovery medicine, 20(111), PMID: Helen Devine Start Date: September 2013 (maternity leave April 2014 to Apr 2015), (maternity leave Aug 2016 to Aug 2017) PhD Project Title: The Pathogenesis of Spinal Bulbar Muscular Atrophy Supervisors: Professor Michael Hanna, Professor Linda Greensmith, Dr Rickie Patani Funding source: Kennedy s fund followed by MRC Clinical Research Training Fellowship Length of studentship: 3 years Project Description: Spinal and Bulbar Muscular Atrophy (SBMA) is a neurodegenerative disorder caused by a polyglutamine repeat in the Androgen Receptor gene. It leads to a motor neuron (MN) disease in males who present with weakness in bulbar and limb muscles in their fourth to sixth decade. Previous research in SBMA has been performed in cell and rodent models which do not truly recapitulate the human disease; there is, therefore, a need for a human model. This is possible using induced pluripotent stem cells (ipscs). Although SBMA is a rare disease, it is particularly interesting as it has parallels to both other MN diseases and other polyglutamine disorders such as Huntington s Disease which also have a neurodegenerative phenotype. The goals of my project are to: 1. Develop a human model of SBMA by differentiating ipscs from SBMA patients into bulbar and spinal MN and astrocytes co-cultured with ipsc spinal MN 2. Investigate pathways of neurodegeneration implicated in MN disease: axonal transport deficits, protein mishandling and aggregation, endoplasmic reticulum stress, mitochondrial dysfunction and the role of disturbed astroglial-neuronal interaction 3. Determine if MN deficits can be ameliorated. Compounds which target protein mishandling and axonal transport are currently available for assessment Significant Publications: Whittaker RG, Devine HE, Gormon GS, Schaefer AM, Horvath R, Ng Y, Nesbitt V, Lax NZ, McFarland R, Cunningham MO, Taylor RW, Turnbull DM Epilepsy in adults with mitochondrial disease: A cohort study (2015) Annals of Neurology 78(6) PMID: Devine H, Parton M (2015) Tips from the shop floor: Seizure: Acute management and investigation British Journal of Hospital Medicine Devine H, Rohrer J (2015) Next Generation Neurology: The ABNT mentoring program ACNR 15(3):17 9 P a g e

214 Tallantyre E, Devine H (2014) The Shape of Training: what is it and how does it affect neurology? ACNR 14 (4): Next destination: My aim is to apply for further funding after completion of my PhD in order to continue my research whilst completing my neurology training. Grace McMacken Start date: September 2015 PhD Project Title: Adrenergic Signalling and Congenital Myasthenic Syndromes Supervisors: Professor Hanns Lochmϋller, Dr Andreas Roos Funding Source: Association of British Neurologists/Guarantors of Brain Clinical Research Training Fellowship Length of studentship: 3 years Project Description: Therapies acting on the sympathetic nervous system have been shown to have beneficial effects in several neurological diseases. More recently, sympathomimetics have been shown to be beneficial with certain types of congenital myasthenic syndromes (CMS). However, the mechanism by which the sympathetic nervous system exerts these effects on neuromuscular transmission is not understood. The aim of this project is to explore the mode of action of sympathomimetics at the neuromuscular junction (NMJ) development and structure, and to characterise the principle route by which adrenergic modulation exerts a physiological effect. The effect of the adrenergic agonists salbutamol and ephedrine will be studied in vivo using CMS zebrafish and mouse models which closely resemble the human disease, allowing the analysis of pre and post-synaptic effects of these drugs throughout NMJ maturation. An understanding of the effect of sympathomimetics at the NMJ will be instrumental in order to target treatment to the most appropriate patient groups, and will facilitate the development of more targeted therapies, which benefit skeletal muscle function while minimizing systemic side effects. Boglarka Bansagi Start date: February 2014 PhD Project Title: Clinical and genetic characterisation of hereditary motor neuropathies Supervisors: Professor Rita Horvath Funding Source: MRC studentship Length of studentship: 3 years 10 P a g e

215 Project Description: The aim of the clinical project is to enhance the national cohort of Charcot Marie Tooth disease with patients diagnosed in North England. This cohort will enable us to proceed with natural history and genetic studies in this gross patient group both nationwide and locally. The project is primarily focused on the subgroup of distal hereditary motor neuropathies (dhmn). We plan to identify new genes and establish further subclassification of dhmn on a clinico-genetic basis. This will provide us with new insights of the pathomechanisms of the disease and will hopefully allow us to identify biomarkers in this subgroup. Significant publications: Balreira A, Boczonadi V, Barca E, Pyle A, Bansagi B, Appleton M, Graham C, Hargreaves IP, Rasic VM, Lochmüller H, Griffin H, Taylor RW, Naini A, Chinnery PF, Hirano M, Quinzii CM, Horvath R. ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency. J Neurol 2014;261(11): Herrmann DN, Horvath R, Sowden JE, Gonzalez M, Sanchez-Mejias A, Guan Z, Whittaker RG, Almodovar JL, Lane M, Bansagi B, Pyle A, Boczonadi V, Lochmüller H, Griffin H, Chinnery PF, Lloyd TE, Littleton JT, Zuchner S. Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. Am J Hum Genet 2014;95(3): Boczonadi V, Bansagi B, Horvath R. Reversible infantile mitochondrial diseases. J Inherit Metab Dis 2015;38(3): Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Am J Hum Genet 2014;95(5): Evangelista T, Bansagi B, Pyle A, Griffin H, Douroudis K, Polvikoski T, Antoniadi T, Bushby K, Straub V, Chinnery PF, Lochmüller H, Horvath R. Phenotypic variability of TRPV4 related neuropathies. Neuromuscul Disord 2015;25(6): Bansagi B, Antoniadi T, Burton-Jones S, Murphy SM, McHugh J, Alexander M, Wells R, Davies J, Hilton-Jones D, Lochmüller H, Chinnery P, Horvath R. Genotype/phenotype correlations in AARSrelated neuropathy in a cohort of patients from the United Kingdom and Ireland. J Neurol 2015; 262(8): Bansagi B, Griffin H, Ramesh V, Duff J, Pyle A, Chinnery PF, Horvath R. The p.ser107leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy. Brain 2015;138(Pt 11):e391. Whittaker RG, Herrmann DN, Bansagi B, Hasan BA, Lofra RM, Logigian EL, Sowden JE, Almodovar JL, Littleton JT, Zuchner S, Horvath R, Lochmüller H. Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome. Neurology 2015;85(22): Katarzyna Swist-Szulik Start date: October 2013 (research associate part-time), May 2014 (MRC studentship) PhD Project Title: Does mitochondrial dysfunction influence NLRP3 inflammasome activation and other cell signalling pathways? Supervisors: Professor Sir Doug Turnbull, Dr Robert McFarland, Professor Rob Taylor, Professor Derek Mann and Dr Lee Borthwick (Fibrosis and Inflammation Group) 11 P a g e

216 Funding Source: MRC studentship Length of studentship: 3 years Project Description: The project aims to improve our understanding of the role of mitochondrial dysfunction in inflammatory responses in both myeloid and non-myeloid cells and investigate the hypothesis that cells with mitochondrial injury can influence signalling transduction pathways and inter-cellular interactions. We have identified that fibroblasts and myoblasts with induced mitochondrial dysfunction by Rotenone (complex I inhibitor) and recombinant interleukin IL-1β produce extremely high levels of interleukin IL-6 in dose dependent manner. In experiments using a migration assay we demonstrated that fibroblasts and myoblasts with induced mitochondrial injury attract far more immune cells, such as THP1 immortalised monocytes, than healthy cells. Proinflammatory interleukin IL-6 appears to play an important role in the migration of these immune cells. These findings may be relevant to disease processes presenting with both mitochondrial and inflammatory components. Year 3 non-clinical Ione Meyer Start Date: Sept 2014 PhD Project Title: Investigating reciprocal interactions at the neuromuscular junction in models of neurodegenerative disease Supervisors: Professor Giampietro Schiavo, Professor Elizabeth Fisher Funding source: MRC Centre Grant Length of studentship: 4 years Project Description: Motor neuron death is a pathological hallmark of a number of neurodegenerative diseases including ALS and SMA. Growing evidence indicates that this degeneration begins at distal regions, with changes at the neuromuscular junction (NMJ) preceding motor neuron cell death and the onset of clinical symptoms. Interestingly, there appears to be a selective vulnerability of specific motor neuron classes (fast fatigable) and their innervated muscle fibre types. Taken together, these results suggest the existence of factors at the NMJ that influence vulnerability, or resistance, to degeneration. It is therefore important to increase our understanding of the reciprocal interactions between motor neurons and the motor endplate in health and disease. Our lab have recently identified a novel retrograde signalling pathway that involves the mobilisation and uptake by motor neurons of a group of extracellular proteins called nidogens, also known as entactins, from the basement membrane at the neuromuscular synapse. The binding affinity of nidogens for several components of the basement membrane indicates that these proteins are involved in stabilisation of the extracellular matrix. However, our results suggest an additional intracellular signalling role for nidogens. We aim to further investigate the physiological function of nidogens at the NMJ, by examining nidogen isoform expression in cultured motor neurons and ex vivo muscles using fluorescence microscopy. Co-localisation studies will also be performed to explore protein interactions, which may shed light on the role of nidogen signalling. This work will lead to a greater understanding of the processes regulating NMJ integrity, and thereby reveal potential targets for therapeutic intervention to combat NMJ pathology in devastating neurodegenerative diseases 12 P a g e

217 Stephanie Carr Start date: September 2014 PhD project title: Cardiac targeted therapy studies in Duchenne Muscular Dystrophy Funding source: Barbour Foundation Length of studentship: 4 years (1 year MRes + 3 years PhD) Supervisor: Prof Hanns Lochmüller Project description: In patients with Duchenne Muscular Dystrophy (DMD), both skeletal and cardiac muscle lack dystrophin protein and degenerate progressively, leading to loss of independence and premature death. While the primary genetic defect is identical for the heart and skeletal muscle, the symptoms and severity are often dissociated pointing towards different secondary, organ-specific events and pathways. Moreover, several innovative therapies that are currently in clinical development such as exon skipping via antisense oligonucleotides seem to be more efficient in the dystrophin-deficient muscle than the heart. To understand the different pathways acting in the dystrophic heart and to develop therapies targeting the heart in DMD, we have generated a specific, new assay. For our assay, we culture primary heart cells from dystrophin-deficient mdx mice (cardiomyocytes) and subject them to stress via serum starvation. Unlike healthy dystrophin-positive cardiomyocytes, mdx cells show a specific hypertrophic response that can be partially reversed by cardio-protective drugs. Therefore, this assay can be utilized to assess therapeutic interventions (drugs or genetic) for whether they show benefit for dystrophic heart cells. Moreover, data obtained through RNA sequencing of different time points in the hypertrophic response of the dystrophic cells in comparison with the normal cells, revealed a number of pathways that are specific for dystrophindeficiency and some that are specific for the heart. This project will continue to use this assay to test therapies for potential efficacy in the heart as well as using it as a tool to investigate specific genes and pathways involved in the hypertrophic response. Persefoni Ioannou Start Date: September 2014 PhD Project Title: NHE1 inhibition as a potential therapy for Duchenne Muscular Dystrophy (DMD) Supervisor: Professor Volker Straub Funding source: MRC, Barbour Foundation Length of studentship: 3 years Project Description: 13 P a g e

218 The absence of dystrophin in Duchenne Muscular Dystrophy (DMD) muscle cells results in increased membrane permeability and subsequent intracellular calcium overload. The dysregulation of calcium homeostasis that characterizes the DMD models is exacerbated by the increased activity of the Sodium/Hydrogen Exchanger 1 (NHE1). NHE1 over-activity leads to an increased influx of sodium, which in turn switches the Sodium/Calcium Exchanger (NCX) into reverse mode, resulting in an increased calcium influx. Selective NHE1 inhibitors can be used to reduce the sodium influx and thereby, revert the NCX to normal mode with a subsequent decrease in the cellular calcium load. This observation has led to the hypothesis that the use of specific NHE1 inhibitors could improve the calcium homeostasis and alleviate pathology in DMD muscle. The current study seeks to demonstrate the efficacy of a specific NHE1 inhibitor that has shown a good safety and potency profile in several pre-clinical studies. The study employs a series of methods including manganese-enhanced molecular resonance imaging (MEMRI), histological analysis, and functional grip strength test, in order to assess the efficacy of the drug after in vivo treatment of mdx mice, a DMD model. The study will be supplemented with in vitro ph, sodium and calcium assays that will be used to verify the drug action. The proposed studies with a first prototype NHE1 inhibitor are an important step towards potential clinical trials for dystrophinopathies with this class of compounds. Aura Cecilia Jimenez Moreno Start Date: September 2014 PhD Project Title: Assessing habitual physical activity in Myotonic Dystrophy type 1 and its impact on disease severity Supervisors: Professor Hanns Lochmüller, Dr. Grainne Gorman and Dr. Sarah Charman Funding source: MRC, Barbour Foundation and Conacyt Mexico. Length of studentship: 3 years Project Description: Myotonic Dystrophy type 1 (DM1) is the most common muscular dystrophy in adults and due to a mutation on the DMPK gene it manifests with an heterogeneous phenotype. However, one of the symptoms patient report to impact more on their daily life functionality has been fatigue which with the underlying progressive muscle weakness leads to a sedentary behaviour associated with poor health outcomes and distinctive physiological consequences in healthy adults. In different debilitating disorders, the association between habitual physical activity (HPA) levels and clinical phenotype has been shown and has also been suggested for DM1. However a valid objective outcome measure is required to quantify this and demonstrate if there is any association between these two variables, HPA and disease burden. The aim of my PhD is to validate the use of an accelerometer to measure HPA in DM1 and analyze its association with disease burden at baseline and prospectively over time. This study is part of an ongoing international trial oriented to increase physical activity in DM1 with the aim to improve patients quality of life and reduced fatigue severity and variables to consider include, functional outcomes, patient reported outcomes, blood biomarkers and cardiac function analyzed by MRI. Relevant Publications: 14 P a g e

219 van Engelen B and the OPTIMISTIC Consortium. Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial. Trials. 2015;16(1):224. Prasanth Sivakumar Start Date: September 2014 About to enter year 3 of 4 PhD Project Title: Investigating dysfunctional RNA processing in TDP-43 mouse mutants Supervisors: Professor Elizabeth Fisher, Pietro Fratta Funding source: MRC Centre Grant Length of studentship: 4 years Project Description: Amyotrophic lateral sclerosis (ALS) is a rapidly progressive disorder characterised by degeneration of both upper and lower motor neurons, resulting in muscular atrophy. Recently, RNA processing has been implicated in ALS pathology, notably the depletion of RNA-binding protein TDP-43 from the nucleus and its subsequent cytoplasmic aggregation in the vast majority of ALS cases. My aim is to investigate the genotypic consequences of aberrant TDP-43 activity on RNA processing. Changes to the motor neuron transcriptome will be analysed using newly developed techniques enabling cell-specific gene expression analysis, and through these methods I hope to further our understanding of the role TDP-43 dysfunction plays in ALS. Year 3 clinical Maiya Kugathasan Start Date: April 2013 PhD Project Title: Hereditary Sensory Neuropathy Type 1 secondary to SPTLC1/2 mutations: Pathogenesis and treatment Supervisors: Professor Mary M Reilly & Professor Linda Greensmith Funding source: NIH Rare Disease Inherited Neuropathy Fellowship (1 year), MRC Centre Grant, followed by MRC clinical training fellowship (3 years) Length of studentship: 4 years Project Description: 15 P a g e

220 Hereditary Sensory Neuropathy Type 1 (HSN1) secondary to SPTLC1/2 mutations is a rare, slowly progressive neuropathy leading to profound sensory loss with variable but often severe motor involvement. At the National Hospital for Neurology and Neurosurgery, we have the largest cohort of patients with this condition in the world. We have a unique population within the United Kingdom where all the SPTCL1 patients have a common mutation (C133W). Recent studies have shown that mutations in these two genes, which encode an enzyme, lead to the build of atypical metabolites called deoxysphingolipids which are postulated to be neurotoxic. My project has three aims. Firstly, to investigate the role of deoxysphingolipids in HSN1 using primary motor neuron and DRG culture models. Secondly to investigate the therapeutic potential of L-serine supplementation using induced pluripotent stem cell derived sensory neurons from patients fibroblasts (Professor Bennett s lab in Oxford). Thirdly, to identify outcome measures for a therapeutic trial in HSN1 patients by undertaking a one year natural history study. Karen Suetterlin Start Date: September 2013 (maternity leave January 2015 to October 2015) (maternity leave 12 May 2016 to est. Jan 2017) PhD Project Title: A Molecular Pathophysiological Study of the Skeletal Muscle Channelopathies Funding source: EU FP7 Research and innovation followed by MRC Research fellowship Supervisor: Professor Michael Hanna, Dr Emma Matthews, Dr Roope Männikkö Length of studentship: 4 years Project Description: Myotonia congenita is caused by mutations in the chloride channel gene. Mutations are found throughout the entire channel, can be dominant or recessive and in some cases both patterns of inheritance have been reported for the same mutation. This makes genetic counselling and determining the likely clinical significance of new variants very difficult. To try to address this I used our large data set to investigate how functional characterisation and variant location might help estimate the risk of a variant being disease causing and/or associated with a dominant mode of inheritance. I functionally characterised 5 novel chloride channel variants and built a homology model of a chloride channel in its functional form as a dimer. I mapped over 80 variants that have been functionally characterised by our centre onto this model and categorised over 200 patients with these variants according to their reported inheritance pattern of clinical symptoms. Variants clearly clustered on the model according to their functional effect and associated inheritance pattern. Combining a variant s location and functional effect with the associated inheritance pattern has enabled us to provide a framework to assess the risk of an associated dominant mode of inheritance and highlight those variants most likely to be benign polymorphisms. In the second part of my PhD I will investigate progressive age related weakness in periodic paralysis and normal ageing. My hypothesis is that age related changes may reduce the muscle s homeostatic reserve to deal with the chronic consequences of single ion channel dysfunction. I will investigate how excitation-contraction coupling and the skeletal muscle channelome change with age in periodic paralysis and normal muscle. I will also look at the effect of prolonged depolarisation, as occurs during an attack of paralysis, on the muscle as a whole and how age 16 P a g e

221 affects this. My aim is to improve our understanding of the mechanisms involved in the development of progressive age related weakness and how acute attacks of paralysis may contribute to permanent weakness in periodic paralysis. Significant Publications: Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, et al. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. Brain : a journal of neurology Epub 2015/12/25. Suetterlin KJ, Bugiardini E, Kaski JP, Morrow JM, Matthews E, Hanna MG, et al. Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies. JAMA neurology. 2015;72(12): Epub 2015/12/15. Suetterlin K, Turner C. Diagnosis and management of headache. Br J Hosp Med (Lond). 2014;75(12):C Epub 2014/12/10. Suetterlin K, Mannikko R, Hanna MG. Muscle channelopathies: recent advances in genetics, pathophysiology and therapy. Current opinion in neurology. 2014;27(5): Epub 2014/09/05. Suetterlin K & Hanna, M.G. Muscle Channelopathies. Chapter 116. International Neurology: A Clinical Approach. 2nd Edition. Wiley Blackwell. In press, to be published April Elizabeth Harris Start date: October 2013 PhD Project Title: Next generation sequencing and deep phenotyping in limb girdle muscular dystrophies Supervisors: Professor Kate Bushby, Professor Volker Straub, Dr Ana Topf Funding Source: Muscular Dystrophy UK Clinical Training and Research Fellowship Length of studentship: 3 years (plus 8 month extension for maternity leave) Project Description: Limb girdle muscular dystrophies (LGMD) are a clinically and genetically heterogeneous group of rare disorders that cause progressive weakness and wasting of proximal muscles. Although the number of genes known to cause LGMD has increased in recent years there remains a small proportion of patients in who a genetic diagnosis is not achieved. This project applies whole exome sequencing to identify the pathogenic genetic variants underlying LGMD, which may be in known or novel disease genes. Once diagnosed, obtaining a comprehensive understanding of the phenotype and progression of these rare diseases is essential for the design of successful clinical trials. I clinically assess patients with genetically confirmed LGMD type 2B, due to mutations in the dysferlin gene as part of an international multicentre natural history study, and analysis of data from this study is also performed as part of this project. Significant Publications: 1. Harris E, Bladen CL, Mayhew A, James M, Bettinson K, Moore U, et al. The Clinical Outcome Study for dysferlinopathy: An international multicenter study. Neurology Genetics Aug;2(4):e89. PubMed PMID: Epub 2016/09/08. eng. 2. Steele HE, Harris E, Barresi R, Marsh J, Beattie A, Bourke JP, et al. Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study. Neurology Sep 6;87(10): PubMed PMID: Epub 2016/08/12. eng. 17 P a g e

222 3. Figueroa-Bonaparte S, Hudson J, Barresi R, Polvikoski T, Williams T, Topf A, et al. Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK. Journal of neurology, neurosurgery, and psychiatry Jun;87(6): PubMed PMID: Pubmed Central PMCID: PMC Epub 2015/06/25. eng. 4. Nasim Vasli*, Elizabeth Harris*, Jason Karamchandani, Eric Bareke7, Jacek Majewski, Norma B. Romero et al. Recessive mutations in the kinase ZAK cause a congenital myopathy with fiber type disproportion. Accepted for publication in Brain, August * denotes that these authors contributed equally to this work Alexander Murphy Start date: August 2014 PhD Project Title: Magnetic resonance imaging of cardiomyopathy secondary to neuromuscular disease and the dystrophinopathies Supervisors: Professor Straub, Dr Hollingsworth, Dr Bourke. Funding source: Bioimage NMD Length of studentship: 3 years Project description: Neuromuscular outcome measurements should be reliable, sensitive, clinically relevant and linked to the underlying disease process. This PhD project explores the use of MRI as a neuromuscular outcome measure for some types of muscular dystrophy. Although MRI has been used in several ways to measure neuromuscular disease progression, so far it has not been able to quantify fibrosis within skeletal or cardiac muscle. LGMD2I, one of the most common types of LGMD has previously only been described with MRI in a one year follow up study. My work will examine: 1. Whether a novel gadolinium-based contrast agent can accurately quantify fibrosis within skeletal and cardiac muscle. 2. Whether the same contrast agent is sensitive enough to detect changes in fibrosis due to administration of an anti-fibrotic. 3. Whether MRI can be used to detect disease progression in a cohort of patients with LGMD2I over a five year period and then compare this to existing neuromuscular outcome measures. 4. Whether MRI can be used to detect disease progression within the heart using novel methods of measurement. 5. Whether MRI can be improved as an outcome measure by reducing acquisition times. Relevant publications: Murphy AP, Straub V. The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies. Journal of Neuromuscular Diseases, vol. 2, no. s2, pp. S7-S19, P a g e

223 Yi Ng Start date: August 2013 PhD Project Title: Understanding the phenotype-genotype correlation in mitochondrial disease Supervisors: Dr Robert McFarland, Professor Sir Doug Turnbull and Professor Rob Taylor Funding Source: MRC Clinical PhD Studentship Length of studentship: 3 years Project Description: The MRC Mitochondrial Disease Patient Cohort is a national collaborative project that has been launched since The main aims are to better understand the phenotypic and genotypic heterogeneity of mitochondrial disease and facilitate patient recruitment for basic science research and clinical study. To date, more than 1150 patients are registered in the cohort database and more than 55% of patients are recruited in Newcastle. My PhD study is integrated with this cohort project. The cores are to clinically deep phenotype patients and family pedigrees affected by mitochondrial disease caused by different genetic mutations, analyse their disease burdens using Newcastle Mitochondrial Disease Adult Scale (NMDAS) and other investigations (such as brain, cardiac and gastrointestinal imaging) in order to better elucidate the natural history. Ultimately, these findings hopefully could be translated back to clinical practice by providing more accurate data on genetic counselling, prognostication and streamline the guidance on disease management. Significant publications: Ng YS, Feeney C, Schaefer AM, Holmes CE, Hynd P, Alston CL, Grady JP, Roberts M, et al. Pseudo-obstruction, stroke and mitochondrial dysfunction: A lethal combination. Annals of neurology. Jul Ng YS, Grady JP, Lax NZ, Bourke JP, Alston CL, Hardy SA, Falkous G, Schaefer AG, Radunovic A, Mohiddin SA, Ralph M, Alhakim A, Taylor RW, McFarland R, Turnbull DM, Gorman GS (2015) Sudden adult death syndrome in m.3243a>g-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults. European heart journal Ng YS, Alston CL, Diodato D, Morris AA, Ulrick N, Kmoch S, Houstek J, Martinelli D, et al. The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. Journal of medical genetics. Jul Ng Y, Turnbull D (2015) Mitochondrial disease: genetics and management. Journal of neurology:1-13 (60%) Anagnostou ME, NG YS, Taylor RW, McFarland R. Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: a clinical and molecular genetic review (Joint first author, accepted in Epilepsia on 26th July 2016) 19 P a g e

224 Renata Scalco Start Date: Sept 2013 PhD Project Title: Translational research studies in exercise related muscle disorders Supervisors: Professor Michael G Hanna, Dr Ros Quinlivan, Dr Doreen Fialho Funding source: CAPES Foundation, Ministry of Education of Brazil Length of studentship: 3 years Project Description: Translational research (TR) is the research that transfers knowledge from basic science to clinical setting thus making findings from basic science useful for practical applications and aiming to improve patient care within a relatively short period. This PhD research will translate knowledge from animal models of Hypokalaemic Periodic Paralysis (HypoPP) and McArdle Disease to identify new treatments for both conditions. It includes two phase II clinical trials: an open label uncontrolled pilot study to evaluate safety and efficacy of sodium valproate in McArdle Disease; and an RCT of Bumetanide in HypoPP. Outcome measurements including neurophysiology, exercise functional tests and muscle biopsy analysis will be assessed for the benefit of future studies. A further project aims to evaluate a group of patients presenting with exercise induced rhabdomyolysis. This involves clinical and histopathological studies as well as genetic testing using next generation sequencing. The identification of new well-characterised patient cohorts will facilitate future translational studies. Significant Publications: Scalco, RS, Snoeck M, Quinlivan R, et al. Exertional rhabdomyolysis: Physiological response or manifestation of an underlying myopathy? BMJ Open Sport & Exercise Medicine. In press Scalco, RS, Gardiner AR, Pitceathly RD, et al. CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies. Neuromuscul Disord Aug;26(8): Scalco RS, Voermans NC, Piercy RJ, Jungbluth H, Quinlivan R. Dantrolene as a possible prophylactic treatment for RYR1-related rhabdomyolysis. Eur J Neurol Aug;23(8):e56-7. doi: /ene Scalco RS, Gardiner AR, Pitceathly RD, et al. Rhabdomyolysis: a genetic perspective. Orphanet J Rare Dis May 2;10:51. doi: /s PMID: Scalco RS, Brady S, Becker J, et al. LETTER TO THE EDITOR Atypical Granulomatous Myositis and Pulmonary Sarcoidosis. Open Rheumatol J Jul 10;9:57-9. doi: / PMID: Quinlivan R, Lucia A, Scalco RS, et al. Report on the EUROMAC McArdle Exercise Testing Workshop, Madrid, Spain, July Neuromuscul Disord Sep;25(9): doi: /j.nmd PMID: Carr AS, Pelayo-Negro AL, Jaunmuktane Z, et al. Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy. Neuromuscul Disord Jun;25(6): doi: /j.nmd PMID: Brady S, Godfrey R, Scalco RS, Quinlivan RM. Emotionally-intense situations can result in rhabdomyolysis in McArdle disease. BMJ Case Rep Oct 7;2014. pii: bcr doi: /bcr PMID: P a g e

225 Brady S, Melath S, Scalco RS, Penn H. Fatal cardiac involvement complicating antisynthetase syndrome. BMJ Case Rep Aug 25;2014. pii: bcr doi: /bcr PMID: Scalco RS, Chatfield S, Godfrey R, et al. From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease. Arq Neuropsiquiatr Jul;72(7): PMID: Next destination: Apply for Post-doc in Translational Research Year 4 non-clinical Louise King Start Date: Sept 2013 PhD Project Title: Mitophagy deficiencies in mitochondrial DNA disease Supervisors: Helene Plun-Favreau, Professor Mike Hanna and Dr Mary Sweeney Funding source: MRC Centre Grant Length of studentship: 4 years Project Description: Mitochondrial DNA (mtdna) mutations are associated with numerous severe disorders, which primarily affect muscle and neural tissues. The clinical severity of patients is highly dependent on the proportion of mutant mtdna present in affected tissues; therefore maintaining mitochondrial quality control processes is essential. Mitophagy is the process of selective mitochondrial degradation that occurs to maintain efficient synthesis of ATP in the cell and avoids the toxic accumulation of damaged mitochondria, and it has been suggested that mtdna damage can induce this process. We aim to characterize the effect of particular mtdna mutations, involving different aspects of oxidative phosphorylation, on the process of mitophagy. Significant Publications: A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. Habbout K, Poulin H, Rivier F, Giuliano S, Sternberg D, Fontaine B, Eymard B, Morales RJ, Echenne B, King L, Hanna MG, Männikkö R, Chahine M, Nicole S, Bendahhou S. Neurology Jan 12;86(2): doi: /WNL Epub 2015 Dec 11. PMID: Andreea Manole 21 P a g e

226 Start Date: Sep 2013 PhD Project Title: Genetic and Functional Investigation of an Inherited Neuropathy and a Channelopathy: Brown-Vialetto-Van Laere Syndrome and Episodic ataxia 1 Supervisors: Professor Henry Houlden, Professor Dimitri Kullmann and Professor Mike Hanna Funding source: MRC Centre Length of studentship: 4 years Project Description: During my PhD I will reprogram fibroblasts from patients with episodic ataxia 1, a disease that arises as a result of mutations in a type of potassium channels, into human induced pluripotent stem cells. I will then characterize these cells by looking at pluripotency markers, karyotype and identity. Finally I will differentiate them into cortical neurons, describe their properties and treat them for the disease. Significant Publications: Severe axonal neuropathy is a late manifestation of SPG11 Manole A, Chelban V, Haridy N A, Berardo A, Reilly MM, Houlden H J Neurol in press Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H. Brain Jul;139(Pt 7): doi: /brain/aww111. Epub 2016 May 23. PMID: A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia. Mestre TA, Manole A, MacDonald H, Riazi S, Kraeva N, Hanna MG, Lang AE, Männikkö R, Yoon G. Neurogenetics Jun 8. [Epub ahead of print] PMID: Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation. Koutsis G, Lynch D, Manole A, Karadima G, Reilly MM, Houlden H, Panas M. J Neurol Aug;262(8): doi: /s x. Epub 2015 Jun 6. No abstract available. PMID: Recent advances in bulbar syndromes: genetic causes and disease mechanisms. Manole A, Fratta P, Houlden H. Curr Opin Neurol Oct;27(5): doi: /WCO Review. PMID: Riboflavin Transporter Deficiency Neuronopathy. Manole A, Houlden H. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; Jun 11. PMID: Charlotte Spicer 22 P a g e

227 Start Date: Sep 2013 PhD Project Title: Investigating the effects of pharmacological up-regulation of the heat shock response in models of inclusion body myopathy Supervisors: Professor Linda Greensmith, Professor Michael Hanna Funding source: MRC Centre Grant Length of studentship: 4 years Project Description: This PhD project involves characterising the histopathology in a transgenic mouse model of a hereditary form of inclusion body myopathy, which recapitulates many of the features of sporadic inclusion body myositis in muscle. We aim to examine the underlying pathomechanisms and changes in the muscle of the mutant mice. From this, we hope to obtain outcome measures which can be used to assess the therapeutic effects of Arimoclomol, a pharmacological co-inducer of the heat shock response. In addition, we have obtained fibroblasts from patients with VCP mutations and will examine whether these human cells also manifest any IBM-like pathology. Significant Publications: Targeting protein homeostasis in sporadic inclusion body myositis. Ahmed M, Machado PM, Miller A, Spicer C, Herbelin L, He J, Noel J, Wang Y, McVey AL, Pasnoor M, Gallagher P, Statland J, Lu CH, Kalmar B, Brady S, Sethi H, Samandouras G, Parton M, Holton JL, Weston A, Collinson L, Taylor JP, Schiavo G, Hanna MG, Barohn RJ, Dimachkie MM, Greensmith L. Targeting protein homeostasis in sporadic inclusion body myositis. Sci Transl Med Mar 23;8(331):331ra41. PubMed. PMID: Michael Thor Start Date: Sept 2013 PhD Project Title: Molecular and cellular pathological mechanisms of skeletal muscle channelopathies and related disorders Supervisors: Drs Roope Männikkö & Stephanie Schorge Funding source: MRC Centre Grant Length of studentship: 4 years Project Description: Skeletal muscle channelopathies are a group of neuromuscular disorders where mutations disrupt the normal function of ion channels. I am interested in using electrophysiological techniques to study how pathogenic mutations in the NaV1.4 sodium and CaV1.1 calcium channels affect their function, and how they relate to the patient phenotype. By the end of this project, I hope to have significantly advanced our understanding of how mutations in related channels can lead to similar electrophysiological properties and clinical manifestations, as well as how different mutations within a single channel can lead to different diseases. This is a useful step towards predicting genotypephenotype relationships in patients with channelopathies, to optimize therapeutic intervention and ultimately improve patient outcome. 23 P a g e

228 Significant Publications: Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F. Brain Dec 22. pii: awv352. [Epub ahead of print] Emma Wilson Start Date: Sept 2013 PhD Project Title: Cellular pathomechanisms and therapeutic strategies in Hereditary Sensory Neuropathy type 1 (HSN-1) Supervisors: Professor Linda Greensmith, Professor Mary Reilly, Dr Bernadett Kalmar Funding source: MRC Centre Grant Length of studentship: 4 years Project Description: My project investigates an inherited disease of the peripheral nervous system called Hereditary Sensory Neuropathy type 1 (HSN-1). HSN-1 presents in patients with both motor and sensory dysfunction to differing extents. I use motor and sensory neuronal models to investigate the underlying pathomechanisms causing this disease and develop potential therapeutic treatments. Emine Bagdatlioglu Start date: September 2013 PhD Project Title: The application of MR imaging in the dystrophin deficient mouse brain: developing outcome measures for diagnostic and therapy development Funding source: MRC Centre Grant Supervisors: Professor Volker Straub & Professor Andrew Blamire Project description: Duchenne muscular dystrophy (DMD), a fatal X-linked recessive disease, is the most common and best characterised form of muscular dystrophy. Although the dystrophin protein, encoded by the DMD gene, is most abundantly expressed in muscle, it is also expressed in the Central Nervous System (CNS). Intellectual impairment is recognised as a disease symptom in DMD and approximately one third of boys with DMD have some degree of cognitive deficit ranging 24 P a g e

229 from reduced verbal intelligence to severe autism. Our lack of knowledge about brain pathology in DMD is reflected in the limited number of studies of the CNS in mouse models of DMD, with hardly anything known about the anatomical or electrophysiological correlates in the mouse brain. The major focus of this project is the development and application of quantitative MRI, including diffusion tensor imaging (DTI) methods to access structural and metabolic brain pathology in mouse models of DMD. The imaging studies will be complemented by histological investigations and immunoanalysis of brain tissue. The overall aim of this research is to use MRI to develop imaging biomarkers that can be used for preclinical studies in DMD mouse models. Marina Bartsakoulia Start Date: September 2013 PhD Project Title: Mitochondrial translation deficiencies Supervisors: Professor Rita Horvath, Dr Veronika Boczonadi and Professor Patrick Chinnery Funding Source: Randerson Foundation Length of Studentship: 3 years (+ up to 1 year unfunded to write up) Project Description: Mitochondrial disorders comprise a large group of heterogeneous disorders which are characterized by impairments in the cellular energy production. One of the great challenges of mitochondrial disease is the variety of clinical features present in patients. Mitochondrial disorders affect more than one organ leading to complex multisystem dysfunctions. Tissues, in which the metabolic demand is higher, such as skeletal muscle, neurons, liver or heart are typically affected. Mutations in both mitochondrial DNA (mtdna) and nuclear DNA (ndna) often lead to mitochondrial disorders. Hence, efficient mitochondrial function is critically dependent on concerted action of the two genomes. There is not much available to date to treat mitochondrial disease. Vitamin supplements, pharmacological agents and exercise therapy are common strategies used in individuals suffering from mitochondrial disorders. My project focuses on the reversibility and tissue specificity of mitochondrial translation deficiencies and therefore I will investigate the effect of L-cysteine and N- acetyl-cysteine supplementation on mitochondrial translation deficiencies and the tissue specificity presentation of some translational deficiencies. Significant Publication: Bartsakoulia M, Müller SJ, Gomez-Duran A, Patrick Yu Wai Man, Boczonadi V, Horvath R: Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies, Journal of Neuromuscular Disorders 9/2016, DOI: /JND Pyle A, Ramesh V, Bartsakoulia M, Boczonadi V, Gomez-Duran A, Herczegfalvi A, Blakely EL, Smertenko T, Duff J, Eglon G, Moore D, Yu-Wai-Man P, Douroudis K, Santibanez-Koref M, Griffin H, Lochmüller H, Karcagi V, Taylor RW, Chinnery PF, Horvath R.: Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene, Journal of Neuromuscular Diseases 2014;1(1):55-63, DOI: /JND P a g e

230 Michele Giunta Start Date: November 2013 PhD Project Title: Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases Supervisors: Prof Rita Horvath, Prof. Patrick Chinnery, Dr. Veronika Boczonadi Funding Source: Marie-Curie MEET studentship Length of studentship: 3 years (+ up to 1 year unfunded to write up) Project Description: Abnormal RNA metabolism is frequently associated with severe neurological disorders such as pontocerebellar hypoplasias and motor neuron disease. The exosome complex is an important RNA processing machinery within the cell and its correct functions are emerging as fundamental for correct neurodevelopment. My work aims to study the function and defects of the exosome complex which cause neurological disorders in patient cell lines and in zebrafish models of defective exosomal proteins. Significant publications: Boczonadi V, Müller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M,..,Chinnery PF, Edvardson S, Horvath R. EXOSC8 mutations alter mrna metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nat Commun Jul 3;5:4287. DOI: /ncomms5287 Müller JS, Giunta M, Horvath R. Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases. J Neuromuscul Dis. 2015;2(Suppl 2):S31-S37. DOI: /JND Giunta M, Edvardson S, Xu Y, Schuelke M, Gomez-Duran A, Boczonadi V, Elpeleg O, Müller JS, Horvath R. Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy. Hum Mol Genet May 18. pii: ddw149. [Epub ahead of print] DOI: /hmg/ddw149 Ewen Sommerville Start Date: Sept 2013 PhD Project Title: Identifying Novel Genes in Mitochondrial Disease Supervisors: Professor Robert W. Taylor and Dr Gráinne S. Gorman Funding source: MRC DTP Studentship Length of studentship: 3 years (+ up to 1 year unfunded to write up) 26 P a g e

231 Project Description: Whole exome sequencing (WES) is a targeted next-generation sequencing technology for the identification of all variants in the exons (coding regions) of all known genes. Mendelian mitochondrial disease has particularly benefitted from WES for attaining genetic diagnoses, due to the vast clinical and genetic heterogeneity of affected patients. My studentship aims to utilise WES to provide diagnoses for two mitochondrial disease patient cohorts with poor phenotype-genotype correlations:- (i) Adult-onset progressive external ophthalmoplegia (PEO) with multiple mitochondrial DNA (mtdna) deletions. This mtdna maintenance disorder is characterised by extraocular paresis and skeletal muscle restricted multiple mtdna deletions. Affected patients present broad phenotypes ranging from indolent PEO to fatal multisystem PEO-plus. Furthermore, identification of pathogenic variants is further complicated since both autosomal dominant and recessive variants have been associated with this disorder. (ii) Early-onset mitochondrial translation disorders. This typically affects patients within the first decade of life and is characterised by multiple mitochondrial respiratory chain complex deficiencies. Both mtdna maintenance and mitochondrial translation require the tight coordination of a vast set of nuclear-encoded proteins. Hence, WES allows the rapid identification of pathogenic variants by filtering of all associated nuclear-encoded genes. Following identification, characterisation of novel candidate disease genes seek to understand the underlying pathological mechanisms and to translate findings into potential therapeutic strategies. Significant Publications: Ewen W. Sommerville, Yi Shiau Ng, Charlotte L. Alston, Cristina Dallabona, Micol Gilberti, Langping He, Charlotte Knowles, Sophie L. Chin, Andrew M. Schaefer, Gavin Falkous, David Murdoch, Cheryl Longman, Marianne de Visser, Laurence A. Bindoff, John M. Rawles, John C.S. Dean, Richard K. Petty, Maria E. Farrugia, Tobias B. Haack, Holger Prokisch, Robert McFarland, Douglass M. Turnbull, Claudia Donnini, Robert W. Taylor, Gráinne S. Gorman (2016) Clinical features, molecular heterogeneity and prognostic implications in YARS2-related mitochondrial myopathy. JAMA Neurol (In Press). Renata Oliveira, Ewen W. Sommerville, Kyle Thompson, Joana Nunes, Angela Pyle, Manuela Grazina, Patrick F. Chinnery, Luísa Diogo, Paula Garcia, Robert W. Taylor (2016) Lethal neonatal LTBL associated with biallelic EARS2 variants: case report and review of the reported neuroradiological features. JIMD Rep DOI: /8904_2016_581 Robert Kopajtich, Thomas J. Nicholls, Joanna Rorbach, Metodi D. Metodiev, Peter Freisinger, Hanna Mandel, Arnaud Vanlander, Daniele Ghezzi, Rosalba Carrozzo, Robert W. Taylor, Klaus Marquard, Kei Murayama, Thomas Wieland, Thomas Schwarzmayr, Johannes A. Mayr, Sarah F. Pearce, Christopher A. Powell, Ann Saada, Akira Ohtake, Federica Invernizzi, Eleonora Lamantea, Ewen W. Sommerville, Angela Pyle, Patrick F. Chinnery, Ellen Crushell, Yasushi Okazaki, Masakazu Kohda, Yoshihito Kishita, Yoshimi Tokuzawa, Zahra Assouline, Marlène Rio, François Feillet, Bénédict Mousson de Camaret, Dominique Chretien, Arnold Munnich, Björn Menten, Tom Sante, Joél Smet, Luc Régal, Abraham Lorber, Asaad Khoury, Massimo Zeviani, Tim M. Strom, Thomas Meitinger, Enrico S. Bertini, Rudy Van Coster, Thomas Klopstock, Agnès Rötig, Tobias B. Haack, Michal Minczuk, Holger Prokisch (2014) Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. Am J Hum Genet 95(6): DOI: /j.ajhg Ewen W. Sommerville, Patrick F. Chinnery, Gráinne S. Gorman, Robert W. Taylor (2014) Adultonset Mendelian PEO Associated with Mitochondrial Disease. J Neuromuscul Dis 1(2): DOI: /JND P a g e

232 Amy Vincent Start date: September 2013 PhD Project Title: Investigating mitochondrial dysfunction in mitochondrial myopathy and other myopathies Supervisors: Professor Sir Doug Turnbull, Professor Rob Taylor, Dr Rita Barresi Funding Source: MRC DTP studentship Length of studentship: 3 years (+ up to 1 year unfunded to write up) Project Description: Mitochondrial DNA mutations and mitochondrial respiratory chain deficiency arise in a mosaic pattern within the skeletal muscle of patients with mitochondrial myopathy. However, they are also found in a number of other myopathies and in aging skeletal muscle. My work looks to investigate mitochondria dysfunction and associated pathogenic mechanisms in both mitochondrial and other myopathies. This is being approached from three angles: 1) Characterising mitochondrial dysfunction in myofibrillar myopathy, dysferlinopathy and centronucelar myopathy and looking for potential links to disease pathology. 2) Attempting to understand mechanisms and factors effecting clonal expansion of mitochondrial DNA mutations. 3) Looking to make links between mitochondrial morphology, ultrastructure and function. Significant publications: Amy E. Vincent, John P. Grady, Mariana C. Rocha, Charlotte L. Alston, Karolina A. Rygiel, Rita Barresi, Robert W. Taylor, Doug M. Turnbull: Mitochondrial dysfunction in myofibrillar myopathy. Neuromuscular Disorders 08/2016; DOI: /j.nmd (in press) Amy E. Vincent, Hannah S. Rosa, Charlotte L. Alston, John P. Grady, Karolina A. Rygiel, Mariana C. Rocha Rita Barresi, Robert W. Taylor, Doug M. Turnbull: Dysferlin mutations and mitochondrial dysfunction. Neuromuscular Disorders 08/2016; DOI: /j.nmd (in press) Amy E Vincent, Yi Shiau Ng, Kathryn White, Tracey Davey, Carmen Mannella, Gavin Falkous, Catherine Feeney, Andrew M Schaefer, Robert Mcfarland, Grainne S Gorman, Robert W Taylor, Doug M Turnbull, Martin Picard: The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy. Scientific Reports 09/2016; 6. DOI: /srep30610 Martin Picard, Amy E Vincent, Doug M. Turnbull: Expanding Our Understanding of mtdna Deletions. Cell Metabolism 07/2016; 24(1). DOI: /j.cmet Virgilio J. J. Cadete, Sonia Deschênes, Alexanne Cuillerier, François Brisebois, Ayumu Sugiura, Amy Vincent, Doug Turnbull, Martin Picard, Heidi M. McBride, Yan Burelle: Formation of Mitchondrial-derived vesicles is an active and physiologically relevant mitochondrial quality control process in the cardiac system. The Journal of Physiology 06/2016; DOI: /JP Karolina A. Rygiel, Helen A. Tuppen, John P. Grady, Amy Vincent, Emma L. Blakely, Amy K. Reeve, Robert W. Taylor, Martin Picard, James Miller, Doug M. Turnbull: Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis. Nucleic Acids Research 04/2016; 44(11). DOI: /nar/gkw382 Mariana C Rocha, John P Grady, Anne Grünewald, Amy Vincent, Philip F Dobson, Robert W Taylor, Doug M Turnbull, Karolina A Rygiel: A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: Understanding mechanisms and improving diagnosis. Scientific Reports 10/2015; 5. DOI: /srep P a g e

233 Yasmin Issop Start Date: September 2013 PhD Project Title: A GFPT1 Deficient Mouse Model of Congenital Myasthenic Syndrome Supervisors: Professor Hanns Lochmüller & Dr Andreas Roos Funding source: MRC/Barbour Foundation Length of studentship: 3 years Project Description: Congenital Myasthenic Syndromes (CMS) are inherited neuromuscular transmission defects characterised by fluctuating muscle weakness and fatigability. CMS differ in terms of severity, course of the disease, inheritance pattern and treatment options depending on the underlying molecular defect, making them a paradigm for individualized medicine. We have identified mutations in the GFPT1 gene giving rise to a novel form of CMS. GFPT1 encodes a ubiquitous protein in the hexosamine pathway which yields precursor substrates required for protein and lipid glycosylation. The aims of this project are to breed and characterise a Gfpt1 knockout mouse model. We will investigate the consequence of GFPT1 deficiency on the glycosylation of skeletal muscle and neuromuscular junction proteins in mice. We will determine whether GFPT1 deficiency results in a modification of glycosyl residues on these proteins and whether this affects acetylcholine receptor clustering at the neuromuscular junction. Visiting fellows Pedro J Tomaselli Start Date: Oct 2014 Clinical Research Fellow Supervisor: Prof Mary M Reilly Project: Next generation sequencing use to determine genetic causes of hereditary neuropathy Project description: Charcot-Marie-Tooth (CMT) disease is a genetically heterogeneous group of hereditary disease affecting the sensory and motor nerves in the peripheral nervous system. Clinically it is characterized by slowly progressive weakness, and numbness affecting the upper and lower limbs in a length-dependent fashion. It is caused by mutations in more than 80 different genes. The highthroughput sequencing technologies (multigene target panels and whole exome sequencing) have 29 P a g e

234 revolutionized the approach to all hereditary diseases. These are increasingly methods used in clinical practice and have a certain application value in the hereditary neuropathy field as well. Therefore, these methods generate a massive amount of data, and sometimes is difficulty to achieve a definitive molecular diagnosis because of the complexity of interpreting new variants and/or the genetic heterogeneity that is associated with these hereditary neuropathies. We sought to explore the application value of next-generation sequencing techniques in the diagnosis of CMT, and determine the efficacy of these methods in clinical practice, whether they are cost-effective. Significant Publications whilst at Centre: Horga A, Cottenie E, Tomaselli PJ, Rojas-García R, Salvado M, Villarreal-Pérez L, Gamez J, Márquez-Infante C, Houlden H, Reilly MM. J Neurol. Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies Aug;262(8): PMID: Tomaselli PJ, Rossor AM, Polke JM, Poh R, Blake J, Reilly MM. Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling. J Peripher Nerv Syst Mar;21(1):52-4. PMID: Completing research Status / awaiting PhD viva Matthew Evans Start Date: April 2013 PhD Project Title: Development and application of Neuromuscular MRI Supervisors: Professor Mary M Reilly, Dr John Thornton, Professor Michael Hanna Funding source: Host matched funding (UCLH BRC) Length of studentship: 3 years Project Description: As we move closer toward clinical trials of treatments for inherited neuromuscular diseases, the need for a valid, reliable and responsive outcome measure becomes increasingly important. My research is focussed on further refining quantitative MRI as an outcome measure in patients with neuromuscular disease, and the application of improved MRI analysis methods to both the cross sectional and longitudinal assessment of various neuromuscular diseases currently being studied at the MRC Centre including inclusion body myositis and Charcot-Marie-Tooth disease. Significant Publications: Evans M, Manji H. Progress in Peripheral nerve disease research in the last two years. J Neurol (2013) 260: DOI /s x MRB Evans, H Manji. Neurology in Africa Howlett. A Book review. J Neurol Neurosurg Psychiatry. doi: /jnnp Matthew RB Evans, Jasper M Morrow. The pupillary examination. Br J Hosp Med (Lond) Apr;76(4):C50-4. doi: /hmed C50. Matthew R B Evans, Matilde Laurá, Hoskote Chandrashekar, Mary M Reilly. Cervical spinal cord compression complicating the clinical course of Charcot-Marie-Tooth type 1. BMJ Case Rep doi: /bcr P a g e

235 Rossor AM, Evans MR, Reilly MM. A practical approach to the genetic neuropathies. Pract Neurol Apr 21. pii: practneurol doi: /practneurol Carr AS, Pelayo-Negro AL, Jaunmuktane Z, Scalco RS, Hutt D, Evans MR, Heally E, Brandner S, Holton J, Blake J, Whelan CJ, Wechalekar AD, Gillmore JD, Hawkins PN, Reilly MM. Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy. Neuromuscul Disord Feb 14. pii: S (15)00036-X. doi: /j.nmd Carr AS, Pelayo-Negro AL, Evans MR, Laurà M, Blake J, Stancanelli C, Iodice V, Wechalekar AD, Whelan CJ, Gillmore JD, Hawkins PN, Reilly MM. A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK. J Neurol Neurosurg Psychiatry Aug 4. pii: jnnp doi: /jnnp Alex Horga PhD Dates: PhD Title: Peripheral neuropathy and mitochondrial disease Supervisors: Professor Mary M Reilly & Professor Michael Hanna Funding source: NCG mitochondrial disease service (prev. funding provided by Caja Madrid Fundacion) Length of studentship: 2 yrs (NCG) Project Description: Dr Horga is a clinical research fellow undertaking a PhD in peripheral neuropathy and mitochondrial disease with Professor Reilly and Professor Hanna. He has completed a clinical study on peripheral neuropathy in patients with progressive external ophthalmoplegia and is currently working with whole-exome sequencing to determine the genetic basis of inherited neuropathies and mitochondrial diseases. Publications whilst at MRC Centre: Horga A, Pitceathly RDS, Blake JC, Woodward CE, Zapater P, Plant GT, Houlden H, Sweeney MG, Hanna MG, Reilly MM. Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia. [in preparation] Liu Y-T, Laura M, Hersheson J, Horga A, Jaunmuktane Z, Brandner S, Pittman A, Hughes D, Polke JM, Sweeney MG, Proukakis C, Janssen JC, Auer-Grumbach M, Zuchner S, Shields K, Reilly MM, Houlden H. Extended phenotypic spectrum of KIF5A mutations: from spastic paraplegia to axonal neuropathy. Neurology [in press] 2013 Horga A, Raja Rayan DL, Matthews E, Sud R, Fialho D, Durran SCM, Burge JA, Portaro S, Davis MB, Haworth A, Hanna MG. Prevalence study of genetically defined skeletal muscle channelopathies in England. Neurology 2013;80(16): Pérez-Miralles F, Sastre-Garriga J, Tintoré M, Nos C, Perkal H, Río J, Edo MC, Horga A, Castilló J, Auger C, Huerga E, Rovira A, Montalban X. Clinical impact of early brain atrophy in clinically isolated syndromes. Mult Scler 2013 May 7 [Epub ahead of print] Vidal-Jordana A, Sastre-Garriga J, Pérez-Miralles F, Tur C, Tintoré M, Horga A, Auger C, Río J, Nos C, Edo MC, Arévalo MJ, Castilló J, Rovira A, Montalban X. Early pseudoatrophy on natalizumab is due to white matter volume changes. Mult Scler 2013 Jan 14 [Epub ahead of print] P a g e

236 Costa C, Arrambide A, Tintoré M, Castilló J, Sastre-Garriga J, Tur C, Río J, Vidal-Jordana A, Auger C, Nos C, Rovira A, Comabella M, Horga A, Montalban X. Value of NMO-IgG determination at the time of presentation as CIS. Neurology 2012; 78(20): Cantó E, Reverter F, Morcillo-Suárez C, Matesanz F, Fernández O, Izquierdo G, Vandenbroeck K, Rodríguez-Antigüedad A, Urcelay E, Arroyo R, Otaegui D, Olascoaga J, Saiz A, Navarro A, Sánchez A, Domínguez C, Caminero A, Horga A, Tintoré M, Montalban X, Comabella M. Chitinase 3-like 1 plasma levels are increased in A. Horga 9 April 2013 patients with progressive forms of multiple sclerosis. Mult Scler 2012; 18(7): Horga A, Castilló J, Río J, Tintoré M, Auger C, Sastre-Garriga J, Edo MC, Pérez-Miralles F, Tur C, Nos C, Huerga E, Comabella M, Rovira A, Montalban X. An observational study of the effectiveness and safety of natalizumab in the treatment of multiple sclerosis. Rev Neurol 2011; 56(6): Horga A, Tintoré M. Natalizumab in the treatment of relapsing-remitting multiple sclerosis. Neurología (6), Peiró AM, Climent L, Zapater P, Horga A, Horga JF. Ketanserin potentiates morphine-induced antinociception mediated by kappa-receptor activation. Pharmacol Res 2011; 64(1): Jasper Morrow PhD dates: PhD Title: Development of Quantitative MRI as an Outcome Measure in Neuromuscular Diseases Funding source: MRC Centre Grant (original) Length of studentship: 4 years Supervisors: Professor Michael Hanna, Professor Mary M Reilly and Professor Tarek Yousry Lack of sensitive outcome measures is a major obstacle to clinical trials in many neuromuscular diseases (NMD). Lower limb muscle MRI allows non-invasive visualisation of acute and chronic pathology in NMD. This thesis assessed the reliability, validity and responsiveness of quantitative MRI in chronic neuromuscular diseases. A comprehensive quantitative MRI protocol of lower limb muscles was developed including T1, T2, fat fraction and magnetisation transfer ratio (MTR) measurements. The protocol was assessed for reliability and sensitivity to physiological variation in 47 healthy volunteers with 15 rescanned at a two week interval. This protocol was then performed together with detailed clinical assessments and isokinetic/isometric dynamometry in 20 patients with inclusion body myositis (IBM), 20 patients with Charcot-Marie-Tooth disease (CMT) and matched health volunteers twice at a 12 month interval. In the healthy volunteers, the inter-scan and inter-observer reliability was high (ICC ) despite small observed physiological variation of between subjects. Fat fraction, T2 and MTR showed significant correlations with subject age in thigh and calf muscles and with subject weight in thigh muscles whereas gender did not influence quantitative parameters. Cross-sectional analysis showed strong correlations with both muscle strength and clinical severity measures demonstrating validity of MRI measurements as outcome measures. Longitudinal assessment demonstrated that excellent sensitivity to change of MRI measures; in particular muscle fat fraction quantification exceeded that of myometry and clinical measurements with standardised response mean over 12 months of 1.1 in IBM and 0.8 in CMT indicating a high level of responsiveness. Annual change in fat fraction could be predicted based on baseline MRI measurements, providing the opportunity to 32 P a g e

237 improve SRM further. This thesis demonstrates the reliability, validity and responsiveness of quantitative MRI as an outcome measure providing a comprehensive practical protocol for clinical trials in NMD. Significant Publications: Finlayson S, Morrow JM, Rodriguez Cruz PM, Sinclair CDJ, Fischmann A, Thornton JS, Knight S, Norbury R, White M, Al-Hajjar M, Carboni N, Jayawant S, Robb SA, Yousry TA, Beeson D, Palace J. Muscle MRI in congenital myasthenic syndromes. Muscle Nerve Jan 20; PMID: Pitceathly RDS, Morrow JM, Sinclair CDJ, Woodward C, Sweeney MG, Rahman S, Plant GT, Ali N, Bremner F, Davagnanam I, Yousry TA, Hanna MG, Thornton JS. Extra-ocular muscle MRI in genetically-defined mitochondrial disease. Eur Radiol Jan;26(1): PMID: Morrow JM, Sinclair CDJ, Fischmann A, Machado PM, Reilly MM, Yousry TA, Thornton JS, Hanna MG. MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study. Lancet Neurol Jan;15(1): PMCID: PMC Suetterlin KJ, Bugiardini E, Kaski JP, Morrow JM, Matthews E, Hanna MG, Fialho D. Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies. JAMA Neurol Dec 1;72(12): PMID: Morrow JM, Reilly MM. Early detection of nerve injury in transthyretin-related familial amyloid polyneuropathy. Brain Mar;138(Pt 3): PMID: Machado PM, Ahmed M, Brady S, Gang Q, Healy E, Morrow JM, Wallace AC, Dewar L, Ramdharry G, Parton M, Holton JL, Houlden H, Greensmith L, Hanna MG. Ongoing developments in sporadic inclusion body myositis. Curr Rheumatol Rep Dec;16(12):477. PMCID: PMC Morrow JM, Sinclair CDJ, Fischmann A, Reilly MM, Hanna MG, Yousry TA, Thornton JS. Reproducibility, and age, body-weight and gender dependency of candidate skeletal muscle MRI outcome measures in healthy volunteers. Eur Radiol Jul;24(7): PMCID: PMC Willis TA, Hollingsworth KG, Coombs A, Sveen M-L, Andersen S, Stojkovic T, Eagle M, Mayhew A, de Sousa PL, Dewar L, Morrow JM, Sinclair CDJ, Thornton JS, Bushby K, Lochmüller H, Hanna MG, Hogrel J-Y, Carlier PG, Vissing J, Straub V. Quantitative magnetic resonance imaging in limbgirdle muscular dystrophy 2I: a multinational cross-sectional study. PLoS ONE. 2014;9(2):e PMCID: PMC Fischmann A, Morrow JM, Sinclair CDJ, Reilly MM, Hanna MG, Yousry T, Thornton JS. Improved anatomical reproducibility in quantitative lower-limb muscle MRI. J Magn Reson Imaging Oct 7; PMID: Morrow JM, Matthews E, Raja Rayan DL, Fischmann A, Sinclair CDJ, Reilly MM, Thornton JS, Hanna MG, Yousry TA. Muscle MRI reveals distinct abnormalities in genetically proven nondystrophic myotonias. Neuromuscul Disord Aug;23(8): PMID: Morrow JM, Reilly MM, Hanna MG. Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. Neurology Jun 11;80(24):2276. PMID: Cortese A, Machado P, Morrow J, Dewar L, Hiscock A, Miller A, Brady S, Hilton-Jones D, Parton M, Hanna MG. Longitudinal observational study of sporadic inclusion body myositis: implications for clinical trials. Neuromuscul Disord May;23(5): PMID: Morrow JM, Pitceathly RDS, Quinlivan RM, Yousry TA. Muscle MRI in Bethlem myopathy. Case Reports Apr 16;2013(apr16 1):bcr bcr Cottenie E, Menezes MP, Rossor AM, Morrow JM, Yousry TA, Dick DJ, Anderson JR, Jaunmuktane Z, Brandner S, Blake JC, Houlden H, Reilly MM. Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. Neuromuscul Disord Mar 12; PMID: Pitceathly RDS, Tomlinson SE, Hargreaves I, Bhardwaj N, Holton JL, Morrow JM, Evans J, Smith C, Fratter C, Woodward CE, Sweeney MG, Rahman S, Hanna MG. Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations. J Neurol Neurosurg Psychiatr Jan;84(1): PMID: Willis TA, Hollingsworth KG, Coombs A, Sveen M-L, Andersen S, Stojkovic T, Eagle M, Mayhew A, de Sousa PL, Dewar L, Morrow JM, Sinclair CDJ, Thornton JS, Bushby K, Lochmüller H, Hanna MG, Hogrel J-Y, Carlier PG, Vissing J, Straub V. Quantitative Muscle MRI as an Assessment Tool 33 P a g e

238 for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study. PLoS ONE. 2013;8(8):e PMID: Sinclair CDJ, Morrow JM, Hanna MG, Reilly MM, Yousry TA, Golay X, Thornton JS. Correcting radiofrequency inhomogeneity effects in skeletal muscle magnetisation transfer maps. NMR Biomed Feb;25(2): PMID: Sinclair CDJ, Morrow JM, Miranda MA, Davagnanam I, Cowley PC, Mehta H, Hanna MG, Koltzenburg M, Yousry TA, Reilly MM, Thornton JS. Skeletal muscle MRI magnetisation transfer ratio reflects clinical severity in peripheral neuropathies. J Neurol Neurosurg Psychiatr Jan;83(1): PMID: Sinclair CDJ, Miranda MA, Cowley P, Morrow JM, Davagnanam I, Mehta H, Hanna MG, Koltzenburg M, Reilly MM, Yousry TA, Thornton JS. MRI shows increased sciatic nerve cross sectional area in inherited and inflammatory neuropathies. J Neurol Neurosurg Psychiatr Nov;82(11): PMID: Morrow JM, Reilly MM. The Babinski sign. Br J Hosp Med (Lond) Oct;72(10):M PMID: Next Destination: Consultant Neurologist, National Hospital for Neurology & Neurosurgery, & Lister Hospital, Stevenage Qiang Gang Start Date: Sept 2012 PhD Project Title: Genetic investigations of sporadic inclusion body myositis and myopathies with structural abnormalities and protein aggregates in muscle Supervisors: Professor Henry Houlden, Professor Michael Hanna & Dr Conceição Bettencourt Funding source: Host Impact (UCL) Length of studentship: 3 years Project Description: Using whole-exome sequencing to investigate the pathogenesis of sporadic inclusion body myositis (IBM) and tubular aggregate myopathies (TAM). Both diseases are rare and the causes are unknown, and it is suggested that genetic factors might be involved in the disease process. Wholeexome sequencing is an advanced and cost-efficient approach to explore the genetic changes of the whole protein-coding region. We aim to identify the genetic risk factors associated with sporadic IBM and the disease-causing genes for TAM, and to improve our understanding of these diseases. Significant Publications: Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis. Gang Q, Bettencourt C, Machado PM, Brady S, Holton JL, Pittman AM, Hughes D, Healy E, Parton M, Hilton-Jones D, Shieh PB, Zanoteli E, Camargo LV, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Singleton AB, Hanna MG, Houlden H; Muscle Study Group and the International IBM Genetics Consortium (Accepted by Neurobiology of Aging) The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis. 34 P a g e

239 Gang Q, Bettencourt C, Machado PM, Fox Z, Brady S, Healy E, Parton M, Holton JL, Hilton-Jones D, Shieh PB, Zanoteli E, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Hanna MG, Houlden H; Muscle Study Group and the International IBM Genetics Consortium. Neurobiol Aging Apr;36(4):1766. PMID: Genetic advances in sporadic inclusion body myositis. Gang Q, Bettencourt C, Houlden H, Hanna MG, Machado PM. Curr Opin Nov;27(6): PMID: Sporadic inclusion body myositis: the genetic contributions to the pathogenesis. Gang Q, Bettencourt C, Machado P, Hanna MG, Houlden H. Orphanet J Rare Jun 19;9:88. PMID: Co-author publication: Ongoing developments in sporadic inclusion body myositis. Machado PM, Ahmed M, Brady S, Gang Q, Healy E, Morrow JM, Wallace AC, Dewar L, Ramdharry G, Parton M, Holton JL, Houlden H, Greensmith L, Hanna MG. Curr Rheumatol Rep Dec;16(12):477.PMID: Next destination: Clinical training Neta Amior Start Date: Sept 2010 (currently in CRS) PhD Project Title: Developing models to study the mechanisms of weakness and myotonia in Periodic Paralysis Supervisors: Professor Michael Duchen and Professor Mike Hanna Funding source: Host Impact (UCL) Length of studentship: 3 years (+ 1 yr extended funding) Project Description: Periodic paralysis (PP) is a disorder caused by mutations of skeletal voltage gated ion channels, characterised by episodic attacks of paralysis. Although these eventually subside, patients develop progressive muscle weakness and frequently, myopathy. The relationship between this progression and the associated mutations is not understood. I propose that the longer term defect might result from disordered calcium signalling and its impact on mitochondrial function. I therefore sought disease models in order to study these aspects of muscle signalling. These were: A model derived from patients: Patient derived fibroblasts were virally transduced with MyoD to generate myoblasts, which were differentiated into myotubes. This process proved too inefficient to collect adequate data. A pharmacological model: generated by treating neonatal rat myotube cultures with barium and low extracellular potassium to simulate attacks of PP. The model was validated using membrane potential sensitive dyes and by electrophysiological techniques. Treated cultures displayed more frequent spontaneous calcium fluctuations. Mitochondrial membrane potential was not affected by the treatment, but expression of TFAM, a regulator of mitochondrial transcription, was upregulated, suggesting activation of retrograde signalling pathways. A mouse model: collaborators at MRC Harwell generated mice carrying a mutation (c.1744a>g; p.ile582val) equivalent to a novel point mutation in SCN4A, one of the ion channel genes associated with PP. Measurements in-vivo established that affected mice show muscle weakness 35 P a g e