부산대학교 도서관

Baranello, Giovanni; Roy, S. Q.; Servais, L.; Munell, F.; Molinero, M. A.; Natera de Benito, D.; Nascimento, A.; Gomez-Andres, D.; Comellas, L. C.; Exposito, J.; Tizzano, E. F.; Cuppen, I.; Van der Pol, L.; Aleman, A.; Lochmuller, H.; Mcmillan, H.; Kirschner, J.; Muller, C.; Oskoui, M.; Masson, R.; Bruno, C.; Gonorazky, H. D.; Tesi-Rocha, C.; Yaworski, A. M.; Zanoteli, E.; Mendonca, R.; D'Amico, A.; Cumbo, F.; Tosi, Clelia Maria; Pane, Marika; Mercuri, Eugenio Maria; Nardes, F.; Prufer, A.; Arci, B. K.; Pascual, S. I.; Fattal-Valevski, A.; De Waele, L.; Deconinck, N.; Farrar, M.; Haberlova, J.; Gomez-Garcia de la Banda, M.; Childs, A. -M.; Martos, C.; Wraige, E.; Gowda, V.; Illingworth, M.; Ong, M.; Majundar, A.; Hughes, I.; Torne, K.; Willis, T.; Ramdas, S.; De Goede, C.; Erbas, Y.; Brusa, C.; Scoto, M.; Muntoni, F.; Baranello G.; Tosi M.; Pane M. (ORCID:0000-0002-4851-6124); Mercuri E. (ORCID:0000-0002-9851-5365)

Wolfe A; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK; Institute of Child Health, University College London, Gower St, London WC1E 6BT, UK.; Sheehan J; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.; Schofield A; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.; Cranney H; Department of Paediatrics - Respiratory Medicine, Evelina London Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.; O'Reilly E; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK.; Stimpson G; Institute of Child Health, University College London, Gower St, London WC1E 6BT, UK.; Andrews A; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.; Vanegas M; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.; Lucas J; Department of Paediatrics - Respiratory Medicine, Evelina London Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.; Scoto M; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK.; Gowda V; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.; Wraige E; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.; Jungbluth H; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine, King's College London, London, UK. Electronic address: Heinz.Jungbluth@gstt.nhs.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

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

Knuiman, G. J.; Küsters, B.; Eshuis, L.; Snoeck, M.; Lammens, M.; Heytens, L.; De Ridder, W.; Baets, J.; Scalco, R. S.; Quinlivan, R.; Holton, J.; Bodi, I.; Wraige, E.; Radunovic, A.; von Landenberg, C.; Reimann, J.; Kamsteeg, E.-J.; Sewry, C.; Jungbluth, H.; Voermans, N. C.

Journal of Neurology. 266(4):876-887

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

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

Cornell, N.; Munot, P.; Scoto, M.; Baranello, G.; Childs, A.-M.; Wraige, E.; Ambegaonkar, G.; Chow, G.; Hughes, I.; Illingworth, M.; Majumdar, A.; Marini-Bettolo, C.; Parasuraman, D.; Spinty, S.; Willis, T.

In: Journal of Neuromuscular Diseases. (Journal of Neuromuscular Diseases, 5 March 2024, 11(2):361-368)

Gowda, V.; Sheehan, J.; Standing, E.; Vanegas, M.; Fernandez-Garcia, M.A.; Wolfe, A.; Pinches, L.; Jungbluth, H.; Wraige, E.; Atherton, M.; D'Urso, S.; Ong, M.; Murugan, A.; Smith, H.; Milton, E.; Majumdar, A.; McCullagh, G.; Warner, S.; Reading, E.; Hughes, I.; Manzur, A.; Scoto, M.; Baranello, G.; Munot, P.; Main, M.; Abbott, L.; Muntoni, F.; Servais, L.; Willis, T.; Tirupathi, S.; Douglas, I.; Horrocks, I.; Dhawan, A.; Eyre, M.; Illingworth, M.; Vijayakumar, K.; Marco, S.S.

In: The Lancet Regional Health - Europe. (The Lancet Regional Health - Europe, February 2024, 37)

Dlamini, N.; Voermans, N.C.; Lillis, S.; Stewart, K.; Kamsteeg, E.-J.; Drost, G.; Quinlivan, R.; Snoeck, M.; Norwood, F.; Radunovic, A.; Straub, V.; Roberts, M.; Vrancken, A.F.J.E.; van der Pol, W.L.; de Coo, R.I.F.M.; Manzur, A.Y.; Yau, S.; Abbs, S.; King, A.; Lammens, M.; Hopkins, P.M.; Mohammed, S.; Treves, S.; Muntoni, F.; Wraige, E.; Davis, M.R.; van Engelen, B.; Jungbluth, H.

In Neuromuscular Disorders July 2013 23(7):540-548

Heng, H.S.; Lim, M.; Absoud, M.; Austin, C.; Clarke, D.; Wraige, E.; Reid, C.; Robb, S.A.; Jungbluth, H.

In Neuromuscular Disorders January 2014 24(1):25-30