부산대학교 도서관

Finnegan R; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK. Electronic address: rebecca.finnegan@gosh.nhs.uk.; Manzur A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; Munot P; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; Dhawan A; Paediatric Liver Service, King's College Hospital, London, UK.; Murugan A; Department of Paediatric Neurology, University Hospital Bristol, Bristol, United Kingdom.; Majumdar A; Department of Paediatric Neurology, University Hospital Bristol, Bristol, United Kingdom.; Wraige E; Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.; Gowda V; Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.; Vanegas M; Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.; Main M; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; O'Reilly E; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; Baranello G; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.; Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.; Scoto M; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.

Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. ana.topf@ncl.ac.uk.; Cox D; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Zaharieva IT; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; Di Leo V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Department of Life Sciences, University of Trieste, Trieste, Italy.; Sarparanta J; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Jonson PH; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Sealy IM; School of Biological and Behavioural Sciences, Queen Mary University of London, London, UK.; Cambridge Institute of Therapeutic Immunology & Infectious Disease (CITIID), Department of Medicine, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, UK.; Smolnikov A; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia.; White RJ; School of Biological and Behavioural Sciences, Queen Mary University of London, London, UK.; Cambridge Institute of Therapeutic Immunology & Infectious Disease (CITIID), Department of Medicine, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, UK.; Vihola A; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland.; Savarese M; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Merteroglu M; School of Biological and Behavioural Sciences, Queen Mary University of London, London, UK.; Laboratory of Angiogenesis and Cancer Metabolism, Department of Biology, University of Padua, Padua, Italy.; Wali N; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Laricchia KM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Venturini C; Division of Infection and Immunity, University College London, London, UK.; Vroling B; Bio-Prodict, Nijmegen, The Netherlands.; Stenton SL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Cummings BB; Laboratory of Angiogenesis and Cancer Metabolism, Department of Biology, University of Padua, Padua, Italy.; Harris E; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, UK.; Marini-Bettolo C; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Diaz-Manera J; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Henderson M; Muscle Immunoanalysis Unit, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Barresi R; IRCCS San Camillo Hospital, Venice, Italy.; Duff J; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; England EM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Patrick J; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Al-Husayni S; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Biancalana V; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, Cnrs UMR7104, Université de Strasbourg, Illkirch, France.; Beggs AH; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Bodi I; Department of Clinical Neuropathology, King's College Hospital NHS Foundation Trust, London, UK.; Bommireddipalli S; Kids Neuroscience Centre, the Children's Hospital at Westmead, the University of Sydney and the Children's Medical Research Institute, Westmead, New South Wales, Australia.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Cairns A; Neurosciences Department, Queensland Children's Hospital, Brisbane, Queensland, Australia.; Chiew MT; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia.; Claeys KG; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium.; Cooper ST; Kids Neuroscience Centre, the Children's Hospital at Westmead, the University of Sydney and the Children's Medical Research Institute, Westmead, New South Wales, Australia.; Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Erasmus CE; Department of Paediatric Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen, The Netherlands.; Fassad MR; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Genetti CA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Grosmann C; Department of Neurology, Rady Children's Hospital University of California San Diego, San Diego, CA, USA.; Jungbluth H; Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Lornage X; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, Cnrs UMR7104, Université de Strasbourg, Illkirch, France.; Löscher WN; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.; Malfatti E; APHP, Neuromuscular Reference Center Nord-Est-Ile-de-France, Henri Mondor Hospital, Université Paris Est, U955, INSERM, Creteil, France.; Manzur A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; Martí P; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Neuromuscular Research Group, IIS La Fe, Valencia, Spain.; Mongini TE; Department of Neurosciences Rita Levi Montalcini, Università degli Studi di Torino, Torino, Italy.; Muelas N; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Neuromuscular Research Group, IIS La Fe, Valencia, Spain.; Department of Medicine, Universitat de Valencia, Valencia, Spain.; Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari I Politècnic La Fe, Valencia, Spain.; Nishikawa A; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Ogonuki N; RIKEN BioResource Research Center, Tsukuba, Japan.; O'Grady GL; Starship Children's Health, Auckland District Health Board, Auckland, New Zealand.; O'Heir E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Paquay S; Cliniques Universitaires St-Luc, Centre de Référence Neuromusculaire, Université de Louvain, Brussels, Belgium.; Phadke R; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; Pletcher BA; Division of Clinical Genetics, Department of Pediatrics, Rutgers New Jersey Medical School, Newark, NJ, USA.; Romero NB; Neuromuscular Morphology Unit, Myology Institute, Sorbonne Université, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-de-France (APHP), GH Pitié-Salpêtrière, Paris, France.; Schouten M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Shah S; Department of Neurology, Perth Children's Hospital, Nedlands, Western Australia, Australia.; Smuts I; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa.; Sznajer Y; Center for Human Genetic, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium.; Tasca G; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Tuite A; Division of Clinical Genetics, Department of Pediatrics, Rutgers New Jersey Medical School, Newark, NJ, USA.; Van den Bergh P; Cliniques Universitaires St-Luc, Centre de Référence Neuromusculaire, Université de Louvain, Brussels, Belgium.; VanNoy G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands.; Wanschitz JV; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.; Wraige E; Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.; Yoshimura K; Department Neurology, Nankoku Hospital, Kochi, Japan.; Oates EC; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia.; Nakagawa O; Department of Molecular Physiology, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.; Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.; Laporte J; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, Cnrs UMR7104, Université de Strasbourg, Illkirch, France.; Vilchez JJ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Neuromuscular Research Group, IIS La Fe, Valencia, Spain.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Sarkozy A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; Cordell HJ; Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Udd B; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland.; Busch-Nentwich EM; School of Biological and Behavioural Sciences, Queen Mary University of London, London, UK.; Cambridge Institute of Therapeutic Immunology & Infectious Disease (CITIID), Department of Medicine, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, UK.; Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, UCL & Great Ormond Street Hospital Trust, London, UK.; Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. volker.straub@ncl.ac.uk.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Cornell N; The Dubowitz Neuromuscular Centre, Developmental Neuroscience Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre & Great Ormond Street Hospital NHS Foundation Trust, UCL Great Ormond Street Institute of Child Health, London, UK.; Childs AM; Leeds Royal Infirmary, Leeds, UK.; Wraige E; Evelina London Childrens Hospital, London, UK.; Munot P; The Dubowitz Neuromuscular Centre, Developmental Neuroscience Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre & Great Ormond Street Hospital NHS Foundation Trust, UCL Great Ormond Street Institute of Child Health, London, UK.; Ambegaonkar G; Addenbrookes Hospital, Cambridge, UK.; Chow G; Queen's Medical Centre Nottingham, Nottingham, UK.; Hughes I; Royal Manchester Children's Hospital, Manchester, UK.; Illingworth M; University Hospital Southampton, Southampton, UK.; Majumdar A; Bristol Royal Hospital for Children, Bristol, UK.; Marini-Bettolo C; John Walton Muscular Research Centre, Newcastle University and Newcastle upon Tyne Hospitals NHS Foundation trust.; Parasuraman D; University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.; Spinty S; Alder Hey Children's Hospital, Liverpool, UK.; Willis T; The Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, UK.; Scoto M; The Dubowitz Neuromuscular Centre, Developmental Neuroscience Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre & Great Ormond Street Hospital NHS Foundation Trust, UCL Great Ormond Street Institute of Child Health, London, UK.; Baranello G; The Dubowitz Neuromuscular Centre, Developmental Neuroscience Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre & Great Ormond Street Hospital NHS Foundation Trust, UCL Great Ormond Street Institute of Child Health, London, UK.

Publisher: IOS Press Country of Publication: Netherlands NLM ID: 101649948 Publication Model: Print Cited Medium: Internet ISSN: 2214-3602 (Electronic) NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Gowda V; Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.; Atherton M; Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Murugan A; Department of Paediatric Neurology, University Hospital Bristol, Bristol, United Kingdom.; Servais L; MDUK Oxford Neuromuscular Centre and NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, United Kingdom.; Division of Child Neurology, Centre de Référence des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège and University of Liège, Avenue de l'Hôpital 1 4000 Liège, Belgium.; Sheehan J; Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.; Standing E; Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.; Manzur A; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, United Kingdom.; Scoto M; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, United Kingdom.; Baranello G; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.; Munot P; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, United Kingdom.; McCullagh G; Royal Manchester Children's Hospital, Manchester, United Kingdom.; Willis T; Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust, Oswestry, United Kingdom.; Tirupathi S; Royal Belfast Hospital for Sick Children, Belfast, United Kingdom.; Horrocks I; Royal Hospital for Children, Glasgow, United Kingdom.; Dhawan A; Paediatric Liver, GI and Nutrition Centre and MowatLabs, King's College Hospital, London, United Kingdom.; Eyre M; School of Biomedical Engineering and Imaging Sciences, King's College London, London, United Kingdom.; Vanegas M; Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.; Fernandez-Garcia MA; Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.; Wolfe A; Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.; Pinches L; Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.; Illingworth M; University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.; Main M; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, United Kingdom.; Abbott L; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, United Kingdom.; Smith H; Department of Paediatric Neurology, University Hospital Bristol, Bristol, United Kingdom.; Milton E; Department of Paediatric Neurology, University Hospital Bristol, Bristol, United Kingdom.; D'Urso S; Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Vijayakumar K; Chelsea and Westminster Hospital, London, United Kingdom.; Marco SS; Paediatric Neurology Department, University Hospital of Wales, Cardiff, United Kingdom.; Warner S; Royal Manchester Children's Hospital, Manchester, United Kingdom.; Reading E; Royal Manchester Children's Hospital, Manchester, United Kingdom.; Douglas I; Royal Belfast Hospital for Sick Children, Belfast, United Kingdom.; Muntoni F; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.; Ong M; Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Majumdar A; Department of Paediatric Neurology, University Hospital Bristol, Bristol, United Kingdom.; Hughes I; Royal Manchester Children's Hospital, Manchester, United Kingdom.; Jungbluth H; Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.; Randall Centre for Cell and Molecular Biophysics, Faculty of Life Sciences and Medicine (FoLSM), London, King's College London, London, United Kingdom.; King's College London, London, United Kingdom.; Wraige E; Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.

Publisher: [Oxford] Country of Publication: England NLM ID: 101777707 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-7762 (Electronic) Linking ISSN: 26667762 NLM ISO Abbreviation: Lancet Reg Health Eur Subsets: PubMed not MEDLINE

Sarkozy A; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.; Sa M; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.; Ridout D; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.; Fernandez-Garcia MA; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.; Distefano MG; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.; Main M; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.; Sheehan J; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.; Manzur AY; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.; Munot P; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.; Robb S; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.; Wraige E; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.; Quinlivan R; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.; Scoto M; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.; Baranello G; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.; Gowda V; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.; Mein R; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.; Phadke R; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.; Jungbluth H; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.; Muntoni F; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom. f.muntoni@ucl.ac.uk.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Allen NM; Department of Paediatrics, School of Medicine, University of Galway, Galway H91 V4AY, Ireland.; O'Rahelly M; Department of Paediatrics, School of Medicine, University of Galway, Galway H91 V4AY, Ireland.; Eymard B; Centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, Unité Pathologie Neuromusculaire, Bâtiment Babinski, G.H. Pitie-Salpetriere, 75013 Paris, France.; Chouchane M; Department of Pediatrics, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Hahn A; Department of Child Neurology, University Hospital Giessen, 35392 Giessen, Germany.; Kearns G; Department of Maxillofacial Surgery, St. James Hospital, Dublin D08 NHY1, Ireland.; Kim DS; Department of Neurology, Pusan National University, School of Medicine, Pusan 50612, South Korea.; Byun SY; Department of Pediatrics, Pusan National University, School of Medicine, Pusan 50612, South Korea.; Nguyen CE; Pediatric Neurology, CHU Sainte-Justine and Département de neurosciences, Université de Montréal, QC, H3T 1C5, Canada.; Schara-Schmidt U; Department of Pediatric Neurology, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg, Essen, DE-45147 Essen, Germany.; Kölbel H; Department of Pediatric Neurology, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg, Essen, DE-45147 Essen, Germany.; Marina AD; Department of Pediatric Neurology, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg, Essen, DE-45147 Essen, Germany.; Schneider-Gold C; Department of Neurology, St Josef Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.; Roefke K; Klinik für Kinder- und Jugendmedizin, 99089 Erfurt, Germany.; Thieme A; Department of Neurology, Clinical Neurophysiology and Neurorehabilitation, St. Georg Klinikum, 99817 Eisenach, Germany.; Van den Bergh P; Neuromuscular Reference Centre UCL St-Luc, University Hospital Saint-Luc, 1200 Brussels, Belgium.; Avalos G; Department of Medicine, University of Galway, Galway H91 V4AY, Ireland.; Álvarez-Velasco R; Unitat Patologia Neuromuscular, Servei Neurologia Hospital Santa Creu i Sant Pau, 08025 Barcelona, Spain.; Natera-de Benito D; Neuromuscular Unit, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Cheng MHM; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong.; Chan WK; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong.; Wan HS; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong.; Thomas MA; Department of Medical Genetics and Pediatrics, Cumming School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, AB T3B 6A8, Canada.; Borch L; Department of Medical Genetics and Pediatrics, Cumming School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, AB T3B 6A8, Canada.; Lauzon J; Department of Medical Genetics and Pediatrics, Cumming School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, AB T3B 6A8, Canada.; Kornblum C; Department of Neurology, University Hospital Bonn, 53127 Bonn, Germany.; Center for Rare Diseases, University Hospital Bonn, 53127 Bonn, Germany.; Reimann J; Department of Neurology, University Hospital Bonn, 53127 Bonn, Germany.; Mueller A; Department of Neonatology and Pediatric Intensive Care, University Hospital Bonn, 53127, Bonn, Germany.; Kuntzer T; Nerve-Muscle Unit, Department of Clinical Neurosciences, CHUV, University of Lausanne, 1011 Lausanne, Switzerland.; Norwood F; Department of Neurology, King's College Hospital, London SE5 9RS, UK.; Ramdas S; MDUK Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford OX3 9DU, UK.; Jacobson LW; Nuffield Department of Clinical Neurosciences, Oxford University, Oxford OX3 9DU, UK.; Jie X; Nuffield Department of Clinical Neurosciences, Oxford University, Oxford OX3 9DU, UK.; Fernandez-Garcia MA; Department of Children's Neurosciences, Evelina London Children's Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London SE1 7EH, UK.; Wraige E; Department of Children's Neurosciences, Evelina London Children's Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London SE1 7EH, UK.; Lim M; Department of Children's Neurosciences, Evelina London Children's Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London SE1 7EH, UK.; Department of Women and Children's Health, School of Life Course Sciences (SoLCS), King's College London, London SE1 9NH, UK.; Lin JP; Department of Children's Neurosciences, Evelina London Children's Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London SE1 7EH, UK.; Claeys KG; Department of Neurology, University Hospitals Leuven, 3000 Leuven, Belgium.; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, and Leuven Brain Institute (LBI), 3000 Leuven, Belgium.; Aktas S; Faculty of Medicine, Department of Pediatrics, Division of Neonatology, Acıbadem University, 34752 Istanbul, Turkey.; Oskoui M; Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Canada.; Centre for Outcomes Research and Evaluation, Research Institute McGill University Health Centre, Montreal, QC H3H 2R9, Canada.; Hacohen Y; Queen Square MS Centre, UCL Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London, London WC1N 3BG, UK.; Department of Neurology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.; Masud A; Department of Neurology, Columbia University Irving Medical Center, New York, NY 10032-3791, USA.; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032-3791, USA.; Leite MI; Nuffield Department of Clinical Neurosciences, Oxford University, Oxford OX3 9DU, UK.; Palace J; Nuffield Department of Clinical Neurosciences, Oxford University, Oxford OX3 9DU, UK.; De Vivo D; Department of Neurology, Columbia University Irving Medical Center, New York, NY 10032-3791, USA.; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032-3791, USA.; Vincent A; Nuffield Department of Clinical Neurosciences, Oxford University, Oxford OX3 9DU, UK.; Jungbluth H; Department of Children's Neurosciences, Evelina London Children's Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London SE1 7EH, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London SE1 1YR, UK.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Gowda VL; Department of Paediatric Neurology, Evelina London Children's Hospital, London, UK vasantha.gowda@gstt.nhs.uk.; Jungbluth H; Department of Paediatric Neurology, Evelina London Children's Hospital, London, UK.; Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, King's College, London, UK.; Wraige E; Department of Paediatric Neurology, Evelina London Children's Hospital, London, UK.

Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101220684 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1743-0593 (Electronic) Linking ISSN: 17430585 NLM ISO Abbreviation: Arch Dis Child Educ Pract Ed Subsets: MEDLINE

Gowda VL; Department of Paediatric Neurology, Evelina London Children's Hospital, London, UK.; Fernandez-Garcia MA; Department of Paediatric Neurology, Evelina London Children's Hospital, London, UK.; Jungbluth H; Department of Paediatric Neurology, Evelina London Children's Hospital, London, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine, King's College London, London, UK.; Wraige E; Department of Paediatric Neurology, Evelina London Children's Hospital, London, UK Elizabeth.Wraige@gstt.nhs.uk.

Publisher: BMJ Pub. Group [etc.] Country of Publication: England NLM ID: 0372434 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2044 (Electronic) Linking ISSN: 00039888 NLM ISO Abbreviation: Arch Dis Child Subsets: MEDLINE

Wraige E; Pohl KRE; Ganesan V; Wraige, E; Pohl, K R E; Ganesan, V

Developmental Medicine & Child Neurology. Apr2005, Vol. 47 Issue 4, p252-256. 5p.

Collins-Sawaragi YC; Paediatric Neurosciences, Evelina London Children's Hospital, London, UK y.collins-sawaragi@nhs.net.; Walker H; Paediatric Neurosciences, Evelina London Children's Hospital, London, UK.; Sanpera-Iglesias J; Paediatric Neurosciences, Evelina London Children's Hospital, London, UK.; Byrne S; Paediatric Neurosciences, Evelina London Children's Hospital, London, UK.; Royal College of Surgeons Ireland, FutureNeuro, Dublin, Ireland.; Wraige E; Paediatric Neurosciences, Evelina London Children's Hospital, London, UK.; Lumsden DE; Paediatric Neurosciences, Evelina London Children's Hospital, London, UK.; Tang S; Paediatric Neurosciences, Evelina London Children's Hospital, London, UK.

Publisher: BMJ Pub. Group [etc.] Country of Publication: England NLM ID: 0372434 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2044 (Electronic) Linking ISSN: 00039888 NLM ISO Abbreviation: Arch Dis Child Subsets: MEDLINE