부산대학교 도서관

Johari M; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Perth, Western Australia, Australia.; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Topf A; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Folland C; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Perth, Western Australia, Australia.; Duff J; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Dofash L; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Perth, Western Australia, Australia.; Marti P; Neuromuscular Research Group, IIS La Fe and CIBERER U763, Hospital Universitari i Politècnic La Fe, Valencia, Spain.; Robertson T; Anatomical Pathology, Queensland Pathology, Brisbane, Queensland, Australia.; School of Biomedical Sciences, University of Queensland, Brisbane, Queensland, Australia.; Vilchez J; Neuromuscular Research Group, IIS La Fe and CIBERER U763, Hospital Universitari i Politècnic La Fe, Valencia, Spain.; Cairns A; Neurosciences Department, Queensland Children's Hospital, Brisbane, Queensland, Australia.; Harris E; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Marini-Bettolo C; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Hundallah K; Division of Pediatric Neurology, Department of Pediatric, Prince Sultan Military Medical City, Riyadh, Riyadh, Saudi Arabia.; Alhashem AM; Division of clinical genetic and metabolic medicine, Department of Pediatric, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Al-Owain M; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Ravenscroft G; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Perth, Western Australia, Australia gina.ravenscroft@perkins.uwa.edu.au.; Straub V; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Dofash L; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands WA, Australia.; Lyengar K; Department of Anatomical Pathology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.; Pereira N; Department of Medical Imaging and Nuclear Medicine, Queensland Childrens Hospital, Brisbane, Queensland, Australia.; Parmar J; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands WA, Australia.; Folland C; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands WA, Australia.; Laing N; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands WA, Australia.; Kang PB; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, USA; Institute for Translational Neuroscience, University of Minnesota, Minneapolis, USA.; Cairns A; Neurosciences Department, Queensland Children's Hospital, Brisbane, QLD, Australia.; Lynch M; Neurosciences Department, Queensland Children's Hospital, Brisbane, QLD, Australia.; Davis M; Diagnostic Genomics, PathWest, Nedlands, WA, Australia.; Ravenscroft G; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands WA, Australia. Electronic address: gina.ravenscroft@perkins.uwa.edu.au.

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

Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel, 9112001.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel, 9112001.; Spicher C; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.; Scheer E; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.; Buchan JG; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195-7110, USA.; Cech J; University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.; Folland C; Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.; Frey T; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland.; Holtz AM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta T2N 1N4, Canada.; Keren B; Department of Genetics and Referral Center for Intellectual Disabilities of Rare Causes, AP-HP, Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, 75013, Paris, France.; Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands.; Otten CE; University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.; Paolucci SA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195-7110, USA.; Petit F; CHU Lille, Clinique de génétique Guy Fontaine, F-59000 Lille, France.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands.; Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Rauch A; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland.; University Children's Hospital Zurich, 8032 Zurich, Switzerland.; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, 8032 Zurich, Switzerland.; University of Zurich Research Priority Program AdaBD: Adaptive Brain Circuits in Development and Learning, 8057 Zurich, Switzerland.; Ravenscroft G; Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.; Sanchev R; Centre for Clinical Genetics, Sydney Children's Hospitals Network-Randwick, Sydney, NSW 2031, Australia.; Steindl K; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland.; Tammer F; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands.; Tyndall A; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta T2N 1N4, Canada.; Devys D; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.; Vincent SD; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.; Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel, 9112001.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel, 9112001.; Tora L; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.

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

Cortese A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. andrea.cortese@ucl.ac.uk.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. andrea.cortese@ucl.ac.uk.; Beecroft SJ; Pawsey Supercomputing Research Centre, Kensington, WA, Australia.; Facchini S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Curro R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Cabrera-Serrano M; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Department of Neurology and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/Universidad de Sevilla/CSIC, Sevilla, 41013, Spain.; Stevanovski I; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia.; Chintalaphani SR; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia.; Gamaarachchi H; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia.; School of Computer Science and Engineering, University of New South Wales, Sydney, NSW, Australia.; Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Folland C; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.; Monahan G; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.; Scriba CK; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Dofash L; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.; Johari M; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.; Grosz BR; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.; Ellis M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.; Fearnley LG; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1 G Royal Parade, Parkville, VIC, 3052, Australia.; Department of Medical Biology, The University of Melbourne, 1G Royal Parade, Parkville, VIC3052, Australia.; Tankard R; Department of Mathematics and Statistics, Curtin University, Perth, WA, Australia.; Read J; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia.; Merve A; Department of Neuropathology, National Hospital for Neurology and Neurosurgery, London, United Kingdom.; Dominik N; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Vegezzi E; IRCCS Mondino Foundation, Pavia, Italy.; Schnekenberg RP; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Fernandez-Eulate G; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France.; Masingue M; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France.; Giovannini D; CHU Grenoble Alpes, Grenoble Institut Neurosciences, INSERM, U1216, Université Grenoble Alpes, Grenoble, France.; Delatycki MB; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia.; Storey E; Neurology Department, The Alfred Hospital, Melbourne, VIC, Australia.; Gardner M; The Laboratory for Genomic Medicine, University of Otago, Dunedin, New Zealand.; Amor DJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia.; Nicholson G; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia.; Vucic S; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.; Brain and Nerve Research Centre, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia.; Henderson RD; Department of Neurology, Royal Brisbane & Women's Hospital, Herston, QLD, Australia.; UQ Centre for Clinical Research, Herston, QLD, Australia.; Robertson T; Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.; School of Biomedical Sciences, The University of Queensland, St. Lucia, QLD, Australia.; Dyke J; PathWest Neuropathology, Royal Perth Hospital, Perth, WA, Australia.; School of Medicine and Pharmacology, University of Western Australia, Crawley, WA, Australia.; Fabian V; PathWest Neuropathology, Royal Perth Hospital, Perth, WA, Australia.; Mastaglia F; Perron Institute for Neurological and Translational Science, Nedlands, WA, Australia.; Davis MR; Neurogenetics Unit, Diagnostic Genomics, PathWest, Nedlands, WA, Australia.; Kennerson M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia.; Quinlivan R; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases, London, United Kingdom.; Hammans S; Wessex Neurological Centre, University Hospital Southampton, Southampton, United Kingdom.; Tucci A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.; Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1 G Royal Parade, Parkville, VIC, 3052, Australia.; Department of Medical Biology, The University of Melbourne, 1G Royal Parade, Parkville, VIC3052, Australia.; McLean CA; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.; Department of Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, Australia.; Laing NG; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.; Stojkovic T; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Deveson IW; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia.; Lockhart PJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia.; Lamont PJ; Neurogenetics Unit, Royal Perth Hospital, Perth, WA, Australia.; Fahey MC; Department of Paediatrics Monash Children's Hospital, Victoria, Australia.; Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Ravenscroft G; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia. gina.ravenscroft@uwa.edu.au.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia. gina.ravenscroft@uwa.edu.au.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Pellerin D; Méreaux JL; Boluda S; Danzi MC; Dicaire MJ; Davoine CS; Genis D; Spurdens G; Ashton C; Hammond JM; Gerhart BJ; Chelban V; Le PU; Safisamghabadi M; Yanick C; Lee H; Nageshwaran SK; Matos-Rodrigues G; Jaunmuktane Z; Petrecca K; Akbarian S; Nussenzweig A; Usdin K; Renaud M; Bonnet C; Ravenscroft G; Saporta MA; Napierala JS; Houlden H; Deveson IW; Napierala M; Brice A; Molina Porcel L; Seilhean D; Zuchner S; Durr A; Brais B

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

Yau WY; Perron Institute for Neurological and Translational Science, The University of Western Australia, Nedlands, Western Australia, 6009, Australia. Electronic address: wai.yau@health.wa.gov.au.; Vijayan S; Perron Institute for Neurological and Translational Science, The University of Western Australia, Nedlands, Western Australia, 6009, Australia.; Ravenscroft G; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.

Publisher: Elsevier Science Country of Publication: England NLM ID: 9513583 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5126 (Electronic) Linking ISSN: 13538020 NLM ISO Abbreviation: Parkinsonism Relat Disord Subsets: MEDLINE

Giardina E; Genomic Medicine Laboratory UILDM, IRCCS Fondazione Santa Lucia, Rome, Italy.; Department of Biomedicine & Prevention, Tor Vergata University of Rome, Rome, Italy.; Camaño P; Molecular Diagnostics Platform, Biogipuzkoa Health Research Institute, Hospital Universitario Donostia, San Sebastián, Spain.; CIBERNED, CIBER, Spanish Ministry of Science & Innovation, Carlos III Health Institute, Madrid, Spain.; Burton-Jones S; South West Genomics Laboratory Hub, Southmead Hospital, Bristol, UK.; Ravenscroft G; Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.; Henning F; Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.; Magdinier F; Aix Marseille Univ, INSERM, Marseille Medical Genetics, Marseille, France.; van der Stoep N; Department of Clinical Genetics, Leiden University Medical Center, The Netherlands.; van der Vliet PJ; Department of Human Genetics, Leiden University Medical Center, The Netherlands.; Bernard R; Aix Marseille Univ, INSERM, Marseille Medical Genetics, Marseille, France.; Centre Hospitalier Universitaire Timone Adultes, Biogénopôle, Service de Génétique Médicale, Marseille, France.; Tomaselli PJ; Department of Neurosciences, Division of Neurology, Ribeirao Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia.; Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.; Department of Genome Medicine Development, Clinical Genome Analysis, Medical Genome Center (MGC), National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.; Oflazer P; Department of Neurology, Koç University Hospital Muscle Center, Koç University Medical Faculty, Istanbul, Turkey.; Race V; Clinical Laboratory Geneticist, Human Genetics, UZ Leuven, Leuven, Belgium.; Vishnu VY; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India.; Williams V; EMQN CIC, Manchester, UK.; Sobreira CFR; Department of Neurosciences, Division of Neurology, Ribeirao Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, The Netherlands.; Moore SA; Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center, Department of Pathology, Roy J. And Lucille A. Carver College of Medicine, The University of Iowa, Iowa City, Iowa, USA.; Voermans NC; Department of Neurology, Radboud university medical center, Nijmegen, The Netherlands.; Lemmers RJLF; Department of Human Genetics, Leiden University Medical Center, The Netherlands.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Pellerin D; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.; Del Gobbo GF; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Couse M; Centre for Computational Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Dolzhenko E; Pacific Biosciences, Menlo Park, CA, USA.; Nageshwaran SK; Department of Psychiatry, Department of Neuroscience and Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Neurogenetics Program, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Cheung WA; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.; Xu IRL; 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, FL, USA.; Dicaire MJ; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.; Spurdens G; 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, FL, USA.; Matos-Rodrigues G; Laboratory of Genome Integrity, National Cancer Institute, NIH, Bethesda, MD, USA.; Stevanovski I; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, New South Wales, Australia.; Scriba CK; Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.; 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, FL, USA.; Roth V; Laboratoire de Génétique, CHRU de Nancy, Nancy, France.; Wandzel M; Laboratoire de Génétique, CHRU de Nancy, Nancy, France.; Bonnet C; Laboratoire de Génétique, CHRU de Nancy, Nancy, France.; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France.; Ashton C; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.; Agarwal A; Tisch Cancer Institute Bioinformatics for Next Generation Sequencing (BiNGS) Core, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Peter C; Department of Psychiatry, Department of Neuroscience and Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Hasson D; Tisch Cancer Institute Bioinformatics for Next Generation Sequencing (BiNGS) Core, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Tsankova NM; Department of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Dewar K; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Lamont PJ; Department of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia.; Laing NG; Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.; Renaud M; Laboratoire de Génétique, CHRU de Nancy, Nancy, France.; Service de Neurologie, CHRU de Nancy, Nancy, France.; Service de Génétique Clinique, CHRU de Nancy, Nancy, France.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.; Synofzik M; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Usdin K; Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.; Nussenzweig A; Laboratory of Genome Integrity, National Cancer Institute, NIH, Bethesda, MD, USA.; Napierala M; Department of Neurology, O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Chen Z; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.; Jiang H; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.; Deveson IW; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, New South Wales, Australia.; Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.; Ravenscroft G; Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.; Akbarian S; Department of Psychiatry, Department of Neuroscience and Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Eberle MA; Pacific Biosciences, Menlo Park, CA, USA.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Pastinen T; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.; UMKC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.; Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; 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, FL, USA.; 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, FL, USA. m.danzi@med.miami.edu.

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

Mavillard F; Neuromuscular Unit, Neurology Department, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Sevilla, Spain.; Guerra-Castellano A; Instituto de Investigaciones Químicas, Universidad de Sevilla-CSIC, Sevilla, Spain.; Guerrero-Gómez D; Redox Homeostasis Group, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain.; Rivas E; Department of Neuropathology, Hospital Universitario Virgen del Rocío, Sevilla, Spain.; Cantero G; Neuromuscular Unit, Neurology Department, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Sevilla, Spain.; Servian-Morilla E; Neuromuscular Unit, Neurology Department, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Sevilla, Spain.; Folland C; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.; Ravenscroft G; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.; Martín MA; Mitochondrial & Neuromuscular Disorders Group, Genetics Department, Hospital 12 de Octubre Research Institute (imas12), Madrid, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Miranda-Vizuete A; Redox Homeostasis Group, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain.; Cabrera-Serrano M; Neuromuscular Unit, Neurology Department, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Sevilla, Spain.; Diaz-Moreno I; Instituto de Investigaciones Químicas, Universidad de Sevilla-CSIC, Sevilla, Spain. Electronic address: idiazmoreno@us.es.; Paradas C; Neuromuscular Unit, Neurology Department, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Sevilla, Spain. Electronic address: cparadas@us.es.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731730 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-260X (Electronic) Linking ISSN: 09254439 NLM ISO Abbreviation: Biochim Biophys Acta Mol Basis Dis Subsets: MEDLINE

Clayton JS; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia. Electronic address: joshua.clayton@perkins.org.au.; Vo C; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia.; Crane J; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia.; Scriba CK; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia; Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, WA, Australia.; Saker S; Genethon, DNA and Cell Bank, 91000 Evry, France.; Larmonier T; Genethon, DNA and Cell Bank, 91000 Evry, France.; Malfatti E; APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, France; Université Paris Est, U955, INSERM, IMRB, F-94010 Créteil, France.; Romero NB; Sorbonne Université, Myology Institute, Neuromuscular Morphology Unit, Center for Research in Myology, GH Pitié-Salpêtrière, Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.; Ravenscroft G; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia.; Laing NG; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia.; Taylor RL; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia.

Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE