부산대학교 도서관

Laura M; Department of Adapted Physical Activity and Sport, Faculty of Health Sciences, Medical University of Silesia, Katowice, Poland.; Ryszard P; Department of Adapted Physical Activity and Sport, Faculty of Health Sciences, Medical University of Silesia, Katowice, Poland.; Gruszczyńska MM; Department of Medical Anthropology, Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland.

Publisher: Institute of Agricultural Medicine Country of Publication: Poland NLM ID: 9500166 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1898-2263 (Electronic) Linking ISSN: 12321966 NLM ISO Abbreviation: Ann Agric Environ Med Subsets: MEDLINE

Burns J; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, USA. Joshua.Burns@STJUDE.ORG.; Timmerman V; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; µNEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium.; Laurá M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Yiu EM; Department of Neurology, The Royal Children's Hospital, Melbourne, Victoria, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.; D'Antonio M; Biology of Myelin Unit, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milan, Italy.; Mukherjee-Clavin B; Department of Neurology, John Hopkins University School of Medicine, Baltimore, MD, USA.; De Winter J; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Scherer SS; Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101672103 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-676X (Electronic) Linking ISSN: 2056676X NLM ISO Abbreviation: Nat Rev Dis Primers Subsets: MEDLINE

Record CJ; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Grider T; Department of Neurology, University of Iowa Health Care Medical Center, Iowa City, Iowa, USA.; Rebelo AP; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Laurini C; Neuromuscular Repair Unit, Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.; Skorupinska M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Poh R; Neurogenetics Laboratory, North Thames Genomics Laboratory Hub, National Hospital for Neurology and Neurosurgery, London, UK.; Tomaselli PJ; Department of Neurology, University of Sao Paulo Ribeirao Preto Medical School, Ribeirao Preto, Brazil.; Frezatti RS; Department of Neurology, University of Sao Paulo Ribeirao Preto Medical School, Ribeirao Preto, Brazil.; Dominik N; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Grosz B; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District and Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Ellis M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District and Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Kumar KR; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, New South Wales, Australia.; Translational Neurogenomics Group, Genomic and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; Harms MB; Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York, USA.; Weihl CC; Department of Neurology, Washington University in Saint Louis School of Medicine, St. Louis, Missouri, USA.; Marques Júnior W; Department of Neurology, University of Sao Paulo Ribeirao Preto Medical School, Ribeirao Preto, Brazil.; Claeys KG; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.; Laboratory for Muscle Diseases and Neuropathies, KU Leuven, Leuven, Belgium.; Blake JC; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich, UK.; Holt JK; Walton Centre for Neurology and Neurosurgery, Liverpool, UK.; Weber A; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK.; Jacobson R; Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA.; Dineen RT; Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA.; Falzone YM; Neuromuscular Repair Unit, Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.; Previtali SC; Neuromuscular Repair Unit, Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.; Menezes MP; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.; The Children's Hospital of Westmead Clinical School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Vucic S; Brain and Nerve Research Centre, Concord Hospital, Concord Clinical School, The University of Sydney, Sydney, New South Wales, Australia.; Laura M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Kennerson ML; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District and Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Shy ME; Department of Neurology, University of Iowa Health Care Medical Center, Iowa City, Iowa, USA.; Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK m.reilly@ucl.ac.uk.

Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-330X (Electronic) Linking ISSN: 00223050 NLM ISO Abbreviation: J Neurol Neurosurg Psychiatry Subsets: MEDLINE

Marie L; University of Rennes, CHU Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail) - UMR_S, 1085, Rennes, France.; Laura M; University of Rennes, CHU Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail) - UMR_S, 1085, Rennes, France.; Ivannah P; Normandie Univ, UNICAEN, UNIROUEN, ABTE, 14000 Caen et 76000, Rouen, France.; Véronique A; Normandie Univ, UNICAEN, UNIROUEN, ABTE, 14000 Caen et 76000, Rouen, France.; Valérie L; University of Rennes, CHU Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail) - UMR_S, 1085, Rennes, France. Electronic address: valerie.lecureur@univ-rennes.fr.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1246405 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2163 (Electronic) Linking ISSN: 00088749 NLM ISO Abbreviation: Cell Immunol Subsets: MEDLINE

Schenone C; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy. cristina.schenone@edu.unige.it.; Lagostina M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; IRCCS Ospedale Policlinico San Martino IRCCS, Genoa, Italy.; Ponzano M; Department of Health Sciences (DISSAL), Biostatistics Unit, University of Genoa, Genoa, Italy.; Avanti C; SC Recupero e Rieducazione Funzionale ASL 3 Genovese, Genoa, Italy.; Contenti C; IRCCS Ospedale Policlinico San Martino IRCCS, Genoa, Italy.; Hamedani M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Grandis M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; IRCCS Ospedale Policlinico San Martino IRCCS, Genoa, Italy.; Gemelli C; IRCCS Ospedale Policlinico San Martino IRCCS, Genoa, Italy.; Massucco S; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Marinelli L; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; IRCCS Ospedale Policlinico San Martino IRCCS, Genoa, Italy.; Roveta E; IRCCS Ospedale Policlinico San Martino IRCCS, Genoa, Italy.; Schenone A; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; IRCCS Ospedale Policlinico San Martino IRCCS, Genoa, Italy.; Trompetto C; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; IRCCS Ospedale Policlinico San Martino IRCCS, Genoa, Italy.; Laura M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; IRCCS Ospedale Policlinico San Martino IRCCS, Genoa, Italy.

Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

Haddad S; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Record CJ; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Self E; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Skorupinska M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Rossor AM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Laura M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Ingle G; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Autonomic Unit, National Hospital for Neurology and Neurosurgery, London, UK.; Manzur A; The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; National Institute of Health Research, Great Ormond Street Hospital Biomedical Research Centre, London, UK.; Muntoni F; The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; National Institute of Health Research, Great Ormond Street Hospital Biomedical Research Centre, London, UK.; Blake JC; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich, UK.; Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.

Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

Record CJ; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; O'Connor A; Department of Neurology, Tallaght University Hospital, Dublin, Ireland.; Verbeek NE; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; van Rheenen W; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Zamba Papanicolaou E; Neuroepidemiology Department of The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Peric S; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Neurology Clinic, University Clinical Centre of Serbia, Belgrade, Serbia.; Ligthart PC; Department of Immunohematology Diagnostic Services, Sanquin Diagnostic Services, Amsterdam, The Netherlands.; Skorupinska M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; van Binsbergen E; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Campeau PM; Department of Pediatrics, University of Montreal, Montreal, Canada.; Ivanovic V; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Neurology Clinic, University Clinical Centre of Serbia, Belgrade, Serbia.; Hennigan B; Clinical Neurophysiology Department, Tallaght University Hospital, Dublin, Ireland.; McHugh JC; Clinical Neurophysiology Department, Tallaght University Hospital, Dublin, Ireland.; Clinical Neurophysiology Department, Children's Health Ireland at Crumlin, Dublin, Ireland.; Blake JC; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich, UK.; Murakami Y; Laboratory of Immunoglycobiology, Research Institute for Microbial Diseases, Osaka University, Suita, Japan.; Laura M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Murphy SM; Department of Neurology, Tallaght University Hospital, Dublin, Ireland.; Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland.; Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Bertini A; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, England.; Pisciotta C; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Previtali SC; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.; Neurology Unit, IRCCS Ospedale San Raffaele, Milan, Italy.; Parman Y; Neuromuscular Unit, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.; Battaloglu E; Bogazici University, Department of Molecular Biology and Genetics, Istanbul, Turkey.; Laurà M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, England.; Blake J; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, England.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norfolk, UK.; Sacconi S; Université Côte d'Azur, Service Système Nerveux Périphérique, Muscle et SLA, Centre Hospitalier Universitaire de Nice, Nice, France.; Attarian S; Reference Center for Neuromuscular Disorders and ALS, CHU la Timone, Aix-Marseille University, Marseille, France.; Stojkovic T; APHP, Sorbonne Université, Hôpital Pitié-Salpêtrière, Centre de référence Des Maladies Neuromusculaires Nord/Est/Ile de France, Paris, France.; Bellatache M; Department of Neurology, Neuroscience Research Laboratory, Benyoucef Benkheda University, Algiers, Algeria.; Nouioua S; Department of Neurology, Neuroscience Research Laboratory, Benyoucef Benkheda University, Algiers, Algeria.; Tazir M; Department of Neurology, Neuroscience Research Laboratory, Benyoucef Benkheda University, Algiers, Algeria.; Cakar A; Neuromuscular Unit, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.; Gambardella A; Department of Neurology, Università Magna Graecia di Catanzaro, Catanzaro, Italy.; Valentino P; Department of Neurology, Università Magna Graecia di Catanzaro, Catanzaro, Italy.; Lewis RA; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Zambon AA; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.; Neurology Unit, IRCCS Ospedale San Raffaele, Milan, Italy.; Sabatelli M; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Centro Clinico Nemo Adulti Rome, Rome, Italy.; Luigetti M; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, UOC Neurologia, Rome, Italy.; Università Cattolica del Sacro Cuore, Sede di Roma, Rome, Italy.; Tozza S; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Naples, Italy.; Manganelli F; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Naples, Italy.; Herrmann DN; Department of Neurology, University of Rochester, Rochester, New York, USA.; Scherer SS; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Kressin N; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Ward K; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Bolino A; Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.; Shy ME; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Pareyson D; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

Quartesan I; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Facchini S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Department of Brain and Behavioural Sciences, University of Pavia, 27100 Pavia, Italy.; Manini A; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Centre, Università degli Studi di Milano, Milan, Italy.; Schnekenberg RP; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Pisciotta C; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.; Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Negri S; Laboratorio di Epigenetica, Dipartimento Medicina Riabilitativa NeuroMotoria - MeRiNM, Istituti Clinici Scientifici Maugeri IRCCS, Pavia, 27100, Italy.; Gaetano C; Laboratorio di Epigenetica, Dipartimento Medicina Riabilitativa NeuroMotoria - MeRiNM, Istituti Clinici Scientifici Maugeri IRCCS, Pavia, 27100, Italy.; Rebelo A; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Raposo JS; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Mazanec R; Neurological Department of the Motol University Hospital, Prague, Czech Republic.; Curro R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Dominik N; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Laurà M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Grider T; Neurology, The University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA, USA.; Feely SM; Division of Pediatric Neurology, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA, USA.; Fridman V; Department of Neurology, University of Colorado Denver School of Medicine, Aurora, CO 80045, USA.; Bertini A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.; Alves GM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Department of Neurosciences and Behaviour Sciences, Neuromuscular Disorders, University of São Paulo, Ribeirao Preto 14040-900, Brazil.; Ferullo L; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Department of Clinical and Experimental Sciences, University of Brescia, 25121 Brescia, Italy.; Ghia A; Department of Brain and Behavioural Sciences, University of Pavia, 27100 Pavia, Italy.; Caccia C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Balistreri F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Saveri P; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.; Crivellari L; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.; Moroni I; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Danti FR; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Mongini T; Department of Neurosciences Rita Levi Montalcini, University of Turin, Turin, Italy.; Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Auer-Grumbach M; Department of Orthopaedics and Trauma Surgery, Medical University of Vienna, Vienna, Austria.; Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Sleigh JN; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; UK Dementia Research Institute, University College London, London, UK.; Tucci A; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Laššuthová P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.; Seeman P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.; Basile A; Department of Molecular Medicine, Medical Genetics Unit, University of Pavia, 27100 Pavia, Italy.; Giorgio E; Department of Molecular Medicine, Medical Genetics Unit, University of Pavia, 27100 Pavia, Italy.; IRCCS Mondino Foundation, Neurogenetics Research Centre, 27100 Pavia, Italy.; Shy ME; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.; Zuchner S; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Pareyson D; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.; Cortese A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Cortese A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy.; Dohrn MF; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.; Curro R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy.; Negri S; Laboratorio di Epigenetica, Dipartimento Medicina Riabilitativa NeuroMotoria-MeRiNM, Istituti Clinici Scientifici Maugeri IRCCS, Pavia 27100, Italy.; Lassuthova P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Praha 150 06, Czechia.; Pisciotta C; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.; Tozza S; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples 80131, Italy.; Al-Ajmi A; Division of Neurology, Department of Medicine, Al-Jahra Hospital, Al-Jahra 00020, Kuwait.; Feng C; Department of Biostatistics and Computational Biology, University of Rochester, Rochester, NY 14642, USA.; Tomaselli PJ; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto 14015-010, Brazil.; Fernandez-Eulate G; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Pitié-Salpêtrière Hospital, APHP, Paris 75013, France.; Haddad S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Laurà M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Rossor AM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Vegezzi E; IRCCS Mondino Foundation, Pavia 27100, Italy.; Facchini S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy.; Sleigh JN; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; UK Dementia Research Institute, University College London, London WC1E 6BT, UK.; Rebelo A; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Beijer D; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.; Raposo J; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Saporta M; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Lauerova B; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Praha 150 06, Czechia.; Pernice HF; Charité University Medicine Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Department of Neurology and Experimental Neurology, Berlin 10117, Germany.; Achenbach P; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.; Institute of Neuropathology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.; Schöne U; Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.; Department of Neurology, Maria Hilf Hospital Mönchengladbach, Mönchengladbach 41063, Germany.; Alon T; Department of Neurology, Beilinson Hospital, Rabin Medical Center, Petah Tikva 4941492, Israel.; Deschauer M; Department of Neurology, University Hospital rechts der Isar, School of Medicine and Health, Technical University Munich, München 81675, Germany.; Cordts I; Department of Neurology, University Hospital rechts der Isar, School of Medicine and Health, Technical University Munich, München 81675, Germany.; Obermaier CD; Center for Genomics and Transcriptomics Tübingen and Zentrum für Humangenetik Tübingen, Tübingen 72076, Germany.; Winter N; Department of Neurology and Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen 72076, Germany.; Creigh PD; Department of Neurology, University of Rochester, Rochester, NY 14642, USA.; Sowden JE; Department of Neurology, University of Rochester, Rochester, NY 14642, USA.; Rehbein T; Department of Neurology, University of Rochester, Rochester, NY 14642, USA.; Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.; Bertini A; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.; Saveri P; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.; Ripellino P; Department of Neurology, Neurocenter of Southern Switzerland EOC, Ospedale Regionale di Lugano, Lugano 6900, Switzerland.; Faculty of Biomedical Sciences, Università della Svizzera Italiana, Lugano 6900, Switzerland.; Huang J; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.; Nadaj-Pakleza A; Service de neurologie, Centre de référence des maladies neuromusculaires, Hôpitaux Universitaires de Strasbourg, Strasbourg 67091, France.; Ross A; Clinical Genetics, NHS Grampian, Aberdeen AB15 6RE, UK.; Holt JKL; Department of Neurology, The Walton Centre, Liverpool L9 7LJ, UK.; Brennan KM; Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.; Sukenik-Halevy R; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petah Tikva 4941492, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv 6997801, Israel.; Bizaoui V; Service de Génétique, Centre Hospitalier Universitaire Caen Normandie, Caen 14000, France.; Parman Y; Neuromuscular Unit, Department of Neurology, Istanbul University, Istanbul Faculty of Medicine, Istanbul 1827, Turkey.; Battaloglu E; Department of Molecular Biology and Genetics, Center for Life Sciences and Technologies, Bogazici University, Istanbul 34342, Turkey.; Cakar A; Neuromuscular Unit, Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34093, Turkey.; Alrohaif H; Kuwait Medical Genetics Centre, Sabah Hospital, Kuwait City, Kuwait.; Hammans S; Wessex Neurological Centre, University Hospital Southampton NHS Foundation Trust. Southampton, SO16 6YD, UK.; Kumar KR; Molecular Medicine Laboratory and Department of Neurology, Concord Repatriation General Hospital, Concord Clinical School, The University of Sydney, Concord, NSW 2006, Australia.; Translational Neurogenomics Group, Genomic and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.; St Vincent's Healthcare Clinical Campus, UNSW Medicine and Health, UNSW Sydney, Kensington, NSW 2052, Australia.; Kennerson ML; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Concord and School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2050, Australia.; Kayserili H; Department of Medical Genetics, Koc University School of Medicine (KUSOM), Istanbul 34010, Turkey.; Amado DA; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Hahn K; Charité University Medicine Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Department of Neurology and Experimental Neurology, Berlin 10117, Germany.; Valentino P; Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Graecia, Catanzaro 88100, Italy.; Cavalcanti F; Institute for Biomedical Research and Innovation (IRIB), Department of Biomedical Sciences, National Research Council (CNR), Mangone (CS) 87050, Italy.; Gaetano C; Laboratorio di Epigenetica, Dipartimento Medicina Riabilitativa NeuroMotoria-MeRiNM, Istituti Clinici Scientifici Maugeri IRCCS, Pavia 27100, Italy.; Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.; Braathen GJ; Department of Medical Genetics, Telemark Hospital Trust, Skien 3710, Norway.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Stojkovic T; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Pitié-Salpêtrière Hospital, APHP, Paris 75013, France.; Peric S; Neurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, Belgrade 11000, Serbia.; Bolino A; Human Inherited Neuropathies Unit, Division of Neuroscience, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan 20132, Italy.; Vita-Salute San Raffaele University, Milan 20132, Italy.; Previtali SC; Neuromuscular Repair Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan 20132, Italy.; Yi-Chung L; Department of Neurology, Taipei Veterans General Hospital, Taipei 11217, Taiwan.; Brain Research Center, National Yang Ming Chiao Tung University, Taipei 112304, Taiwan.; Başak AN; Koç University, School of Medicine, Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine, Istanbul 34010, Turkey.; Hamed SA; Department of Neurology and Psychiatry, Assiut University Hospital, Assiut 71515, Egypt.; Rojas-Garcia R; Department of Neurology, Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona 08193, Spain.; Center for Networked Biomedical Research into Rare Diseases (CIBERER), Madrid 28029, Spain.; Claeys KG; Department of Neurology, University Hospitals Leuven, Leuven 3000, Belgium.; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, and Leuven Brain Institute (LBI), Leuven 3000, Belgium.; Marques W; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto 14015-010, Brazil.; Sevilla T; Neurology Department, La Fe Health Research Institute (IISLAFE), Neuromuscular Research Unit, Valencia 46026, Spain.; Schlotter-Weigel B; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, München 80336, Germany.; Manganelli F; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples 80131, Italy.; Zhang R; Department of Neurology, Third Xiangya Hospital, Central South University, Changsha 410013, China.; Herrmann DN; Department of Neurology, University of Rochester, Rochester, NY 14642, USA.; Scherer SS; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Seeman P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Praha 150 06, Czechia.; Pareyson D; Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.; Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Shy ME; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.; Züchner S; Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.

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

O'Donnell LF; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Zhang V; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Carganillo R; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Rossor AM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Laura M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Skorupinska M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Gilbertson JA; National Amyloidosis Centre, University College London, London, UK.; Rowczenio D; National Amyloidosis Centre, University College London, London, UK.; Razvi Y; National Amyloidosis Centre, University College London, London, UK.; Gillmore JD; National Amyloidosis Centre, University College London, London, UK.; Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.

Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J Peripher Nerv Syst Subsets: MEDLINE

Record CJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Pipis M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Skorupinska M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Blake J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich NR4 7UY, UK.; Poh R; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Polke JM; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Eggleton K; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Nanji T; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Cortese A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Rossor AM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Laura M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, 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

Doherty CM; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Howard P; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; O'Donnell LF; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Zuccarino R; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Fondazione Serena Onlus, Centro Clinico NeMO Trento, Italy.; Wastling S; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK.; Milev E; Dubowitz Neuromuscular Center, Great Ormond Street Hospital, London, UK.; Banks T; Department of Radiology, Great Ormond Street Hospital, London, UK.; Shah S; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK.; Zafeiropoulos N; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK.; Stephens KJ; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Sarkozy A; Dubowitz Neuromuscular Center, Great Ormond Street Hospital, London, UK.; Grider T; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Feely SME; Division of Pediatric Neurology, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA, USA.; Manzur A; Dubowitz Neuromuscular Center, Great Ormond Street Hospital, London, UK.; Shy RR; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Skorupinska M; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Pipis M; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Nicolaisen E; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; McDowell A; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK.; Dilek N; University of Rochester School of Medicine and Dentistry, New York, NY, USA.; Rossor AM; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Laura M; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Clark C; Department of Radiology, Great Ormond Street Hospital, London, UK.; Muntoni F; Dubowitz Neuromuscular Center, Great Ormond Street Hospital, London, UK.; Thedens D; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Thornton J; Lysholm Department of Radiology, National Hospital for Neurology and Neurosurgery, London, UK.; Morrow JM; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Shy ME; Roy and Lucille Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Reilly MM; Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Ward KS; Department of Neurology, University of Iowa Health Care Medical Center, Iowa City, IA 52242, USA.; Ptak CP; Biomolecular Nuclear Magnetic Resonance Facility, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Pashkova N; Department of Molecular Physiology and Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Grider T; Department of Neurology, University of Iowa Health Care Medical Center, Iowa City, IA 52242, USA.; Peterson TA; Department of Molecular Physiology and Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Pareyson D; Department of Clinical Neurosciences, Fondazione IRCCS Instituto Neurologico Carlo Besta, 20133 Milan, Italy.; Pisciotta C; Department of Clinical Neurosciences, Fondazione IRCCS Instituto Neurologico Carlo Besta, 20133 Milan, Italy.; Saveri P; Department of Clinical Neurosciences, Fondazione IRCCS Instituto Neurologico Carlo Besta, 20133 Milan, Italy.; Moroni I; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Laura M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Burns J; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, USA.; Menezes MP; University of Sydney School of Health Sciences, Faculty of Medicine and Health; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospital Network, Sydney, 2145  Australia.; Cornett K; University of Sydney School of Health Sciences, Faculty of Medicine and Health; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospital Network, Sydney, 2145  Australia.; Finkel R; Center for Experimental Neurotherapies, St. Jude Children's Research Hospital, Memphis, TN  USA.; Mukherjee-Clavin B; Department of Neurology, John Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Sumner CJ; Department of Neurology, John Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Greene M; Department of Neurology, Stanford University, Stanford, CA 94304, USA.; Abdul Hamid O; Department of Neurology, Nemours Children's Hospital, Orland, FL 32827, USA.; Herrmann D; Department of Neurology, University of Rochester, Rochester, NY 14618, USA.; Sadjadi R; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.; Walk D; Department of Neurology, University of Minnesota, Minneapolis, MN 55455, USA.; Züchner S; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.; John P. Hussman Institutue for Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Scherer SS; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Piper RC; Department of Molecular Physiology and Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Shy ME; Department of Neurology, University of Iowa Health Care Medical Center, Iowa City, IA 52242, USA.

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

Tomaselli PJ; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto, Brazil.; Blake J; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich, UK.; Polke JM; UCLH Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, UK.; do Nascimento OJM; Neurology Department of Fluminense Federal University (UFF), Rio de Janeiro, Brazil.; Reilly MM; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.; Marques Júnior W; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto, Brazil.; Laurá M; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.

Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

Dudziec MM; Department of Neuromuscular Diseases, University College London: Institute of Neurology, London, UK.; Queen Square Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, University College Hospitals, NHS Foundation Trust, London, UK.; School of Rehabilitation Sciences, Faculty of Health, Social Care and Education, Kingston University and St Georges University of London, London, UK.; Lee LE; Department of Neuromuscular Diseases, University College London: Institute of Neurology, London, UK.; Queen Square Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, University College Hospitals, NHS Foundation Trust, London, UK.; Massey C; Queen Square Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, University College Hospitals, NHS Foundation Trust, London, UK.; Tropman D; Purchasing and Stores Department, The London Clinic, London, UK.; Skorupinska M; Department of Neuromuscular Diseases, University College London: Institute of Neurology, London, UK.; Queen Square Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, University College Hospitals, NHS Foundation Trust, London, UK.; Laurá M; Department of Neuromuscular Diseases, University College London: Institute of Neurology, London, UK.; Queen Square Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, University College Hospitals, NHS Foundation Trust, London, UK.; Reilly MM; Department of Neuromuscular Diseases, University College London: Institute of Neurology, London, UK.; Queen Square Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, University College Hospitals, NHS Foundation Trust, London, UK.; Ramdharry GM; Department of Neuromuscular Diseases, University College London: Institute of Neurology, London, UK.; Queen Square Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, University College Hospitals, NHS Foundation Trust, London, UK.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

Pernice HF; Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Neurology and Experimental Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; O'Donnell LF; Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Rossor AM; Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Laura M; Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Record CJ; Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Skorupinska M; Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Blake J; Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich, UK.; Poh R; Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Polke J; Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Reilly MM; Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.

Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J Peripher Nerv Syst Subsets: MEDLINE

Serena Renzi; Luca Digiacomo; Daniela Pozzi; Erica Quagliarini; Elisabetta Vulpis; Maria Valeria Giuli; Angelica Mancusi; Bianca Natiello; Maria Gemma Pignataro; Gianluca Canettieri; Laura M

Nature, Nature Communications. 15(1):1-20

Mircea S; Department of Surgical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania.; Laura M; Preclinical Sciences Department, Faculty of Medicine and Pharmacy, University of Oradea, 1st December Square 10, 410073 Oradea, Romania.; Sebastian HM; Department of Surgical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania.; Lucian BI; Department of Morfological Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania.; Maria FD; Department of Medical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania.; Daniel C; Faculty of Medicine, Transilvania University, 500036 Brașov, Romania.; Dragos CC; Department of Surgical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania.; Loredana HL; Department of Medical Disciplines, Faculty of Medicine and Pharmacy, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania.; Liliana S; Department of Preclinical Disciplines, Faculty of Medicine, Apollonia University, 700511 Iasi, Romania.; Bianca MP; Department of Surgical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101602269 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4426 (Print) Linking ISSN: 20754426 NLM ISO Abbreviation: J Pers Med Subsets: PubMed not MEDLINE

Cortese A; Department of Neuromuscolar Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Currò R; Department of Neuromuscolar Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Ronco R; Department of Neuromuscolar Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Blake J; Department of Neuromuscolar Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich, UK.; Rossor AM; Department of Neuromuscolar Diseases, UCL Queen Square Institute of Neurology, London, UK.; Bugiardini E; Department of Neuromuscolar Diseases, UCL Queen Square Institute of Neurology, London, UK.; Laurà M; Department of Neuromuscolar Diseases, UCL Queen Square Institute of Neurology, London, UK.; Warner T; Department of Neuromuscolar Diseases, UCL Queen Square Institute of Neurology, London, UK.; Yousry T; Department of Neuromuscolar Diseases, UCL Queen Square Institute of Neurology, London, UK.; Poh R; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK.; Polke J; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK.; Rebelo A; Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Dohrn MF; Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Department of Neurology, Medical Faculty of the RWTH Aachen University Hospital, Aachen, Germany.; Saporta M; Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Houlden H; Department of Neuromuscolar Diseases, UCL Queen Square Institute of Neurology, London, UK.; Zuchner S; Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Reilly MM; Department of Neuromuscolar Diseases, UCL Queen Square Institute of Neurology, London, UK.

Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE