부산대학교 도서관

Laura Ivete Rudaks; Igor Stevanovski; Dennis Yeow; Andre L. M. Reis; Sanjog R. Chintalaphani; Pak Leng Cheong; Hasindu Gamaarachchi; Lisa Worgan; Kate Ahmad; Michael Hayes; Andrew Hannaford; Samuel Kim; Victor S. C. Fung; Gabor M. Halmagyi; Andrew Martin; David Manser; Michel Tchan; Karl Ng; Marina L. Kennerson; Ira W. Deveson; Kishore Raj Kumar

Annals of Clinical and Translational Neurology, Vol 12, Iss 4, Pp 832-841 (2025)

Laing, N.; Kennerson, M.; Lamont, P.; Vucic, S.; Davis, M.; Bryson-Richardson, R.; Ravenscroft, G.; Perez-Siles, G.; Ghaoui, R.; Narayanan, R.; McCombe, P.; Deveson, I.; Bryen, S.; Grosz, B.; Johari, M.; Rick, A.; Folland, C.; Scriba, C.; Parmar, J.; Ellis, M.

Neuromuscular Disorders. 43

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: PubMed not MEDLINE; 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

Beijer D; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.; Dohrn MF; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Department of Neurology, Medical Faculty RWTH Aachen University, Aachen 52074, Germany.; Rebelo A; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Danzi MC; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Grosz BR; Northcott Neuroscience Laboratory ANZAC Research Institute, Sydney Local Health District, School of Medical Sciences, University of Sydney, Sydney, NSW 2139, Australia.; Ellis M; Northcott Neuroscience Laboratory ANZAC Research Institute, Sydney Local Health District, School of Medical Sciences, University of Sydney, Sydney, NSW 2139, Australia.; Kumar KR; Department of Neurology and Molecular Medicine Laboratory, Sydney Medical School, University of Sydney, Concord Hospital, Sydney, NSW 2139, Australia.; Vucic S; Brain and Nerve Research Centre, Concord Hospital, Sydney Medical School, University of Sydney, Sydney, NSW 2139, Australia.; Vais H; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Weissenrieder JS; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lunko O; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Paudel U; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Simpson LC; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Camarena V; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Raposo J; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Saporta M; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Arcia Y; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Xu I; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Feely S; Department of Neurology, The University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 55242, USA.; Record CJ; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N36BG, UK.; Blake J; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N36BG, UK.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich NR4 7UY, UK.; Reilly MM; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N36BG, UK.; Scherer SS; Department of Neurology, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Kennerson M; Northcott Neuroscience Laboratory ANZAC Research Institute, Sydney Local Health District, School of Medical Sciences, University of Sydney, Sydney, NSW 2139, Australia.; Department of Neurology and Molecular Medicine Laboratory, Sydney Medical School, University of Sydney, Concord Hospital, Sydney, NSW 2139, Australia.; Lee YC; Department of Neurology, Taipei Veterans General Hospital, Taipei 112, Taiwan.; Foskett JK; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Shy ME; Department of Neurology, University of Iowa, Carver College of Medicine, Iowa City, IA 55242, USA.; Zuchner S; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 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

Currò R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.; Dominik N; 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 Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.; Vegezzi E; IRCCS Mondino Foundation, 27100 Pavia, Italy.; Sullivan R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Galassi Deforie V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Fernández-Eulate G; Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, 75013 Paris, France.; Traschütz A; Research Division 'Translational Genomics of Neurodegenerative Diseases', Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, 72076 Tübingen, Germany.; Rossi S; Dipartimento di Scienze dell'Invecchiamento, Neurologiche, Ortopediche e della Testa-Collo, UOC Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.; Facoltà di Medicina e Chirurgia, Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Garibaldi M; Neuromuscular and Rare Disease Center, Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy.; Kwarciany M; Department of Adult Neurology, Medical University of Gdańsk, 80-952 Gdańsk, Poland.; Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.; Brusco A; Department of Medical Sciences, University of Torino, 10124 Turin, Italy.; Good JM; Division of Genetic Medicine, Lausanne University Hospital (CHUV), 1011 Lausanne, Switzerland.; Cavalcanti F; Institute for Biomedical Research and Innovation (IRIB), Italian National Research Council (CNR), 87050 Mangone, Italy.; Hammans S; Wessex Neurological Centre, Southampton General Hospital, Southampton, SO16 6YD, UK.; Ravenscroft G; Neurogenetic Diseases Group, Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedland, WA 6009, Australia.; Roxburgh RH; Neurology Department, Auckland City Hospital, New Zealand and the Centre for Brain Research, University of Auckland, Auckland 1142, New Zealand.; Parolin Schnekenberg R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Rugginini B; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.; Abati E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.; Manini A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.; Quartesan I; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.; Ghia A; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.; Lòpez de Munaìn A; Neurology Department, Donostia University Hospital, University of the Basque Country-Osakidetza-CIBERNED-Biodonostia, 20014 Donostia-San Sebastián, Spain.; Manganelli F; Department of Neuroscience and Reproductive and Odontostomatological Sciences, University of Naples Federico II, 80131 Naples, Italy.; Kennerson M; Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2050, Australia.; Santorelli FM; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, 56128 Pisa, Italy.; Infante J; University Hospital Marquès de Valdecilla-IDIVAL, University of Cantabria, 39008 Santander, Spain.; Marques W; Department of Neurology, School of Medicine of Ribeirão Preto, University of São Paulo, 2650 Ribeirão Preto, Brazil.; Jokela M; Neuromuscular Research Center, Department of Neurology, Tampere University and University Hospital, 33520 Tampere, Finland.; Neurocenter, Department of Neurology, Clinical Neurosciences, Turku University Hospital and University of Turku, 20014 Turku, Finland.; Murphy SM; Department of Neurology, Tallaght University Hospital, D24 NR0A Dublin, Ireland.; Academic Unit of Neurology, Trinity College Dublin, D02 R590 Dublin, Ireland.; Mandich P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.; IRCCS Ospedale Policlinico San Martino-UOC Genetica Medica, 16132 Genova, Italy.; Fabrizi GM; Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, 37134 Verona, Italy.; Briani C; Department of Neurosciences, ERN Neuromuscular Unit, University of Padova, 35100 Padova, Italy.; Gosal D; Manchester Centre for Clinical Neurosciences, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Greater Manchester, M6 8HD, UK.; Pareyson D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.; Ferrari A; IRCCS Mondino Foundation, 27100 Pavia, Italy.; Prados F; Centre for Medical Image Computing (CMIC), Department of Medical Physics and Biomedical Engineering, University College London, London, WC1V 6LJ, UK.; NMR Research Unit, Institute of Neurology, University College London (UCL), London, WC1N 3BG, UK.; e-Health Centre, Universitat Oberta de Catalunya, 08018 Barcelona, Spain.; Yousry T; Neuroradiological Academic Unit, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Khurana V; Division of Movement Disorders and Ann Romney Center for Neurologic Diseases, Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Kuo SH; Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.; Miller J; Department of Neurology, Royal Victoria Hospitals, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, NE1 4LP, UK.; Troakes C; London Neurodegenerative Diseases Brain Bank, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE21 8EA, UK.; Jaunmuktane Z; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Giunti P; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Hartmann A; Division of General Psychiatry, Medical University of Vienna, 1090 Vienna, Austria.; Basak N; Koç University, School of Medicine, Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine, 34010 Istanbul, Turkey.; Synofzik M; Research Division 'Translational Genomics of Neurodegenerative Diseases', Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, 72076 Tübingen, Germany.; Stojkovic T; Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, 75013 Paris, France.; Hadjivassiliou M; Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Trust and University of Sheffield, Sheffield, S10 2JF, UK.; Reilly MM; 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.; 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, 27100 Pavia, Italy.

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

Dominik N; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.; Currò R; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy.; Abati E; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy.; Facchini S; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; IRCCS Mondino Foundation, Pavia 27100, Italy.; Corbetta M; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.; Macpherson H; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Di Bella D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.; Sarto E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.; Stevanovski I; Genomics Pillar, Garvan Institute of Medical Research, Sydney 2010, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Darlinghurst 2010, Australia.; Chintalaphani SR; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Darlinghurst 2010, Australia.; Akcimen F; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 2292, USA.; Manini A; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy.; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan 20145, Italy.; Vegezzi E; IRCCS Mondino Foundation, Pavia 27100, Italy.; Quartesan I; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy.; Montgomery KA; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Pirota V; Department of Chemistry, University of Pavia, Pavia 27100, Italy.; G4-INTERACT, USERN, 27100 Pavia, Italy.; Crespan E; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza', Pavia 27100, Italy.; Perini C; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza', Pavia 27100, Italy.; Grupelli GP; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza', Pavia 27100, Italy.; Tomaselli PJ; Department of Neurology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto 2650, Brazil.; Marques W; Department of Neurology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto 2650, Brazil.; Shaw J; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Polke J; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Salsano E; Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan 20126, Italy.; Fenu S; Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan 20126, Italy.; Pareyson D; Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan 20126, Italy.; Pisciotta C; Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan 20126, Italy.; Tofaris GK; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.; Nemeth AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK.; Ealing J; Salford Royal NHS Foundation Trust Greater Manchester Neuroscience Centre, Manchester Centre for Clinical Neurosciences Salford, Greater Manchester M6 8HD, UK.; Radunovic A; Barts MND Centre, Royal London Hospital, London E1 1BB, UK.; Kearney S; Department of Neurology, Royal Victoria Hospital, Belfast BT12 6BA, UK.; Kumar KR; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW 2139, Australia.; Concord Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2139, Australia.; Vucic S; Concord Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2139, Australia.; Brain and Nerve Research Centre, Concord Hospital, Sydney, NSW 2139, Australia.; Kennerson M; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW 2139, Australia.; Northcott Neuroscience Laboratory, ANZAC Research Institute SLHD, Sydney, NSW 2050, Australia.; School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2050, Australia.; Reilly MM; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Houlden H; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Deveson I; Genomics Pillar, Garvan Institute of Medical Research, Sydney 2010, Australia.; Tucci A; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.; Cortese A; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy.

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

Igor Stevanovski; Sanjog R. Chintalaphani; Hasindu Gamaarachchi; James M. Ferguson; Sandy S. Pineda; Carolin K. Scriba; Michel Tchan; Victor Fung; Karl Ng; Andrea Cortese; Henry Houlden; Carol Dobson-Stone; Lauren Fitzpatrick; Glenda Halliday; Gianina Ravenscroft; Mark R. Davis; Nigel G. Laing; Avi Fellner; Marina Kennerson; Kishore R. Kumar; Ira W. Deveson

Sci Adv

G. Perez-Siles; M. Ellis; A. Ashe; B. Grosz; S. Vucic; M. C. Kiernan; K. A. Morris; S. W. Reddel; M. L. Kennerson

Frontiers in Genetics, Vol 12 (2022)

Razi, S; Cogger, V; Kennerson, M; Benson, V; McMahon, A; Blyth, F; Handelsman, D; Seibel, M; Hirani, V; Naganathan, V; Waite, L; de Cabo, R; Cumming, R; Le Couteur, D

The Journals of Gerontology: Series A. 72:870-876

35 Hous. L. Rev. 279 (1998-1999) / Houston Law Review, Vol. 35, Issue 1 (1998), pp. 279-304

Perez-Siles, G.; Cutrupi, A.; Ellis, M.; Screnci, R.; Mao, D.; Uesugi, M.; Yiu, Eppie M.; Ryan, Monique M.; Choi, B. O.; Nicholson, G.; Kennerson, M. L.

Scientific Reports. 10(1)

Yeh JY; Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan.; Chao HC; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.; Institute of Clinical Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Division of Neurology, Department of Medicine, Taoyuan General Hospital, Ministry of Health and Welfare, Taoyuan, Taiwan.; Hong CL; Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan.; Hung YC; Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan.; Tzou FY; Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan.; Hsiao CT; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.; Li JL; Ph.D. Program in Translational Medicine, National Taiwan University and Academia Sinica, Taipei, Taiwan.; Department of Neurology, National Taiwan University Hospital Jinshan Branch, New Taipei City, Taiwan.; Chen WJ; Institute of Molecular Biology, Academia Sinica, Taipei, Taiwan.; Taiwan International Graduate Program in Interdisciplinary Neuroscience, National Cheng Kung University and Academia Sinica, Tapiei, Taiwan.; Chou CT; Department of Neurology, Neurological Institute, Taichung Veterans General Hospital, Taichung, Taiwan.; Tsai YS; Cancer and Immunology Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Liao YC; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.; Brain Research Center, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.; Lin YC; Institute of Molecular Medicine, National Tsing Hua University, HsinChu, Taiwan.; Department of Medical Science, National Tsing Hua University, HsinChu, Taiwan.; Lin S; Institute of Molecular Biology, Academia Sinica, Taipei, Taiwan.; Huang SY; Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan.; Kennerson M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Concord, NSW, Australia.; School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW, Australia.; Lee YC; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan. ycli@vghtpe.gov.tw.; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan. ycli@vghtpe.gov.tw.; Brain Research Center, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan. ycli@vghtpe.gov.tw.; Chan CC; Graduate Institute of Physiology, National Taiwan University, Taipei, Taiwan. chancc1@ntu.edu.tw.

Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

Gonzalo Perez-Siles; Carolyn Ly; Adrienne Grant; Alexander P. Drew; Eppie M. Yiu; Monique M. Ryan; David T. Chuang; Shih-Chia Tso; Garth A. Nicholson; Marina L. Kennerson

Neurobiology of Disease, Vol 94, Iss , Pp 237-244 (2016)

Yeow D; Neurology Department and Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, Australia.; Translational Neurogenomics Group, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Neurodegenerative Service, Prince of Wales Hospital and Neuroscience Research Australia, Sydney, New South Wales, Australia.; Rudaks LI; Neurology Department and Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, Australia.; Translational Neurogenomics Group, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Clinical Genetics Unit, Royal North Shore Hospital, Sydney, New South Wales, Australia.; Davis R; The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, Australia.; Translational Neurogenomics Group, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Neurogenetics Research Group, Kolling Institute, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney and Northern Sydney Local Health District, Sydney, New South Wales, Australia.; Ng K; The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, Australia.; Department of Neurology, Royal North Shore Hospital, Sydney, New South Wales, Australia.; Ghaoui R; Department of Neurology, Royal Adelaide Hospital, Adelaide, South Australia, Australia.; The University of Adelaide School of Medicine, Adelaide, South Australia, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Cheong PL; The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.; Institute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, New South Wales, Australia.; Ravenscroft G; Rare Disease Genetics and Functional Genomics, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.; Centre for Medical Research, The University of Western Australia Faculty of Health and Medical Sciences, Perth, Western Australia, Australia.; Kennerson M; The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Sydney, New South Wales, Australia.; Deveson I; Genomic Technologies Lab, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.; Kumar KR; Neurology Department and Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, Australia.; Translational Neurogenomics Group, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.

Publisher: British Medical Association Country of Publication: England NLM ID: 101775450 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-6140 (Electronic) Linking ISSN: 26326140 NLM ISO Abbreviation: BMJ Neurol Open Subsets: PubMed not MEDLINE

Claeys, K.G.; Zuchner, S.; Kennerson, M.; Berciano, J.; Garcia, A.; Verhoeven, K.; Storey, E.; Merory, J.R.; Bienfait, H.M.; Lammens, M.M.Y.; Nelis, E.; Baets, J.; De Vriendt, E.; Berneman, Z.N.; De Veuster, I.; Vance, J.M.; Nicholson, G.; Timmerman, V.; de Jonghe, P.

Brain, 132, Pt 7, pp. 1741-52
Brain

Cipriani S; Division of Neuroscience, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.; Guerrero-Valero M; Division of Neuroscience, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.; Tozza S; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples, Italy.; Zhao E; Vaccine and Infectious Disease Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.; Department of Biostatistics, University of Washington, Seattle, Washington, USA.; Vollmer V; Institute of Integrative Cell Biology and Physiology, Westfalian Wilhelms University Münster, Münster, Germany.; Beijer D; Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA.; Danzi M; Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA.; Rivellini C; Division of Neuroscience, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.; Lazarevic D; Center for Omics Sciences, IRCCS Ospedale San Raffaele, Milan, Italy.; Pipitone GB; Unit of Genomics for the Diagnosis of Human Pathologies and Laboratory of Clinical and Molecular Biology, IRCCS Ospedale San Raffaele, Milan, Italy.; Grosz BR; Northcott Neuroscience Laboratory, ANZAC Research Institute Sydney Local Health District and Faculty of Health and Medicine, University of Sydney, Sydney, Australia.; Lamperti C; Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Marzoli SB; Neuroophthalmology Service and Ocular Electrophysiology laboratory, Department of Ophthalmology, Scientific Institute, Auxologico Capitanio Hospital, Milan, Italy.; Carrera P; Unit of Genomics for the Diagnosis of Human Pathologies and Laboratory of Clinical and Molecular Biology, IRCCS Ospedale San Raffaele, Milan, Italy.; Devoto M; Division of Genetics, Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; CNR-IRGB, Cagliari, Italy.; Pisciotta C; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Pareyson D; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Kennerson M; Northcott Neuroscience Laboratory, ANZAC Research Institute Sydney Local Health District and Faculty of Health and Medicine, University of Sydney, Sydney, Australia.; Previtali SC; Division of Neuroscience, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.; Department of Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.; Zuchner S; Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA.; Scherer SS; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Manganelli F; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples, Italy.; Bähler M; Institute of Integrative Cell Biology and Physiology, Westfalian Wilhelms University Münster, Münster, Germany.; Bolino A; Division of Neuroscience, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.

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

Rinaldi C.; Grunseich C.; Sevrioukova I. F.; Schindler A.; Horkayne-Szakaly I.; Lamperti C.; Landoure G.; Kennerson M. L.; Burnett B. G.; Bonnemann C.; Biesecker L. G.; Ghezzi D.; Zeviani M.; Fischbeck K. H.

The American Journal of Human Genetics. 91:1095-1102

Meyer-Schuman R; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Marte S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Smith TJ; Department of Chemistry, University of Michigan, Ann Arbor, MI 48109, USA.; Feely SME; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.; Kennerson M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW 2050, Australia.; Molecular Medicine Laboratory, Concord General Repatriation Hospital, Sydney, NSW 2139, Australia.; Nicholson G; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW 2050, Australia.; Molecular Medicine Laboratory, Concord General Repatriation Hospital, Sydney, NSW 2139, Australia.; Shy ME; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.; Koutmou KS; Department of Chemistry, University of Michigan, Ann Arbor, MI 48109, USA.; Antonellis A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Akram M; Department of Zoology, Wildlife and Fisheries, Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Rawalpindi, Pakistan.; Handelsman DJ; The ANZAC Research Institute (ARI), University of Sydney, Concord, NSW, Australia.; Qayyum M; Department of Zoology, Wildlife and Fisheries, Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Rawalpindi, Pakistan.; Kennerson M; The ANZAC Research Institute (ARI), University of Sydney, Concord, NSW, Australia.; Rauf S; Department of Zoology, Wildlife and Fisheries, Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Rawalpindi, Pakistan.; Department of Biosciences, University of Wah, Quaid Avenue, Wah Cantt, Pakistan.; Ahmed S; Department of Endocrinology, Military Hospital, Rawalpindi, Pakistan.; Ishtiaq O; The Endocrinology and Diabetes Department, Shifa International Hospitals Ltd, Islamabad, Pakistan.; Ismail M; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.; Mansoor Q; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.; Naseem AA; Department of Zoology, Wildlife and Fisheries, Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Rawalpindi, Pakistan.; Rizvi SSR; Department of Zoology, Wildlife and Fisheries, Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Rawalpindi, Pakistan.

Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2191-0251 (Electronic) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE