Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Lamont PJ"'
Autor:
Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG
Publikováno v:
HUMAN MUTATION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skeletal/-cardiac myosin heavy chain encoded by the gene MYH7, as is a common form of familial hypertrophic/dilated cardiomyopathy. The mechanisms by which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::434359635dd96e0d98098c4d42de53f2
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1753
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1753
Publikováno v:
Current Opinion in Neurology; Oct2005, Vol. 18 Issue 5, p504-510, 7p
Autor:
Brooks WS, Kwok JBJ, Kril JJ, Broe GA, Blumbergs PC, Tannenberg AE, Lamont PJ, Hedges P, Schofield PR, Brooks, William S, Kwok, John B J, Kril, Jillian J, Broe, G Anthony, Blumbergs, Peter C, Tannenberg, Anthony E, Lamont, Phillipa J, Hedges, Philippa, Schofield, Peter R
Publikováno v:
Brain: A Journal of Neurology; Apr2003, Vol. 126 Issue 4, p783-791, 9p
Publikováno v:
Brain: A Journal of Neurology; April 1997, Vol. 120 Issue: 4 p673-673, 1p
Autor:
Emilia Servián-Morilla, A. L. Pelayo-Negro, Macarena Cabrera-Serrano, Fabiola Mavillard, Nigel G. Laing, Abbie M. Adams, Gianina Ravenscroft, Alejandra Carvajal, M. A. Fernández-García, Sue Fletcher, Jose Luis Nieto-Gonzalez, Carmen Paradas, Reimar Junckerstorff, E. Rivas-Infante, J. M. Dyke, Phillipa J. Lamont
Publikováno v:
Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-16 (2019)
idUS. Depósito de Investigación de la Universidad de Sevilla
instname
Digital.CSIC. Repositorio Institucional del CSIC
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-16 (2019)
idUS. Depósito de Investigación de la Universidad de Sevilla
instname
Digital.CSIC. Repositorio Institucional del CSIC
TRIM32 is a E3 ubiquitin -ligase containing RING, B-box, coiled-coil and six C-terminal NHL domains. Mutations involving NHL and coiled-coil domains result in a pure myopathy (LGMD2H/STM) while the only described mutation in the B-box domain is assoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aafbf2991c3b2e4dbcb2c6496b47371
http://europepmc.org/articles/PMC6396567
http://europepmc.org/articles/PMC6396567
Autor:
Nagy S; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Neurology, University Hospital Basel, University of Basel, Basel 4031, Switzerland., Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 9DU, UK., Cali E; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Braakman HMH; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center & Donders Institute for Brain, Cognition and Behavior, Nijmegen 6525 GA, The Netherlands., Wijntjes J; Department of Neurology and Clinical Neurophysiology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen 6525 GD, The Netherlands., Kusters B; Department of Pathology, Radboudumc, Nijmegen 6525 GA, The Netherlands., Gotkine M; Department of Neurology, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112001, Israel., Elpeleg O; Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, Jerusalem 9574869, Israel., Meiner V; Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, Jerusalem 9574869, Israel., Lenberg J; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Wigby K; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Rady Children's Hospital, San Diego, CA 92123, USA.; Department of Pediatrics, University of California San Diego, La Jolla, CA 92093, USA., Friedman J; Department of Pediatrics, University of California San Diego, La Jolla, CA 92093, USA., Perry LD; The Dubowitz Neuromuscular Centre, UCL Great Ormond Street, Great Ormond Street Hospital, London WC1N 1EH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, London WC1N 3BG, UK., Rossor AM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Uhrova Meszarosova A; Neurogenetic Laboratory, Department of Paediatric Neurology, and Institute of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague 150 06, Czech Republic., Thomasova D; Neurogenetic Laboratory, Department of Paediatric Neurology, and Institute of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague 150 06, Czech Republic., Jacob S; Department of Neurology, University Hospitals Birmingham, Birmingham B15 2TT, UK.; Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham B15 2TT, UK., O'Driscoll M; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK., De Simone L; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Grange DK; Department of Neurology at Washington University, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63108, USA., Sommerville R; Department of Neurology at Washington University, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63108, USA., Firoozfar Z; Palindrome, Isfahan 83714, Iran., Alavi S; Palindrome, Isfahan 83714, Iran., Mazaheri M; Department of Medical Genetics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd 97514, Iran.; Dr. Mazaheri's Medical Genetics Lab, Yazd 97514, Iran., Parmar JM; Rare Disease Genetics and Functional Genomics Group, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia., Lamont PJ; Royal Perth Hospital, Perth, WA 6000, Australia., Pini V; The Dubowitz Neuromuscular Centre, UCL Great Ormond Street, Great Ormond Street Hospital, London WC1N 1EH, UK., Sarkozy A; The Dubowitz Neuromuscular Centre, UCL Great Ormond Street, Great Ormond Street Hospital, London WC1N 1EH, UK.; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, London WC1N 3BG, UK., Muntoni F; The Dubowitz Neuromuscular Centre, UCL Great Ormond Street, Great Ormond Street Hospital, London WC1N 1EH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK., Ravenscroft G; Rare Disease Genetics and Functional Genomics Group, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia., Jones E; Genomics Medicine Ireland, Dublin D18 K7W4, Ireland., O'Rourke D; Children's Health Ireland at Temple Street, Dublin, Dublin D01 XD99, Ireland., Nel M; Neurogenomics Lab, Neuroscience Institute, University of Cape Town, Cape Town 7935, South Africa.; Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town 7935, South Africa., Heckmann JM; Neurology Research Group, Neuroscience Institute, University of Cape Town, Cape Town 7935, South Africa., Kvalsund M; Department of Neurology, University of Rochester Medical Center, Rochester, NY 14618, USA.; Department of Internal Medicine, University of Zambia School of Medicine, Ridgeway, Lusaka, Zambia., Kapapa MM; Department of Physiotherapy, University of Zambia School of Health Sciences, Lusaka, Zambia., Wa Somwe S; Department of Paediatrics and Child Health, School of Medicine and Health Sciences, University of Lusaka, Lusaka, Zambia., Bearden DR; Department of Neurology, University of Rochester Medical Center, Rochester, NY 14618, USA.; Department of Educational Psychology, University of Zambia, Lusaka, Zambia., Çakar A; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Neuromuscular Unit, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34093, Turkey., Childs AM; Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds LS1 3EX, UK., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 2PY, UK., Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Houlden H; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Maroofian R; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Publikováno v:
Brain communications [Brain Commun] 2024 Oct 28; Vol. 6 (6), pp. fcae377. Date of Electronic Publication: 2024 Oct 28 (Print Publication: 2024).
Autor:
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.
Publikováno v:
Nature communications [Nat Commun] 2024 Oct 17; Vol. 15 (1), pp. 8955. Date of Electronic Publication: 2024 Oct 17.
Autor:
Rius R; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, NSW, Australia; The University of Melbourne, Melbourne, VIC, Australia., Compton AG; The University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia., Baker NL; The University of Melbourne, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia., Balasubramaniam S; Sydney Children's Hospitals Network, Westmead, NSW, Australia; University of Sydney, Sydney, NSW, Australia., Best S; The University of Melbourne, Melbourne, VIC, Australia; Australian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia; Victorian Comprehensive Cancer Centre, Melbourne, VIC, Australia; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Bhattacharya K; Sydney Children's Hospitals Network, Westmead, NSW, Australia., Boggs K; Sydney Children's Hospitals Network, Westmead, NSW, Australia., Boughtwood T; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Braithwaite J; Australian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia., Bratkovic D; Women's and Children's Hospital, Adelaide, SA, Australia., Bray A; Sydney Children's Hospitals Network, Westmead, NSW, Australia., Brion MJ; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Burke J; Tasmanian Clinical Genetics Service, Hobart, Australia; The University of Tasmania, Hobart, TAS, Australia., Casauria S; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Chong B; Victorian Clinical Genetics Services, Melbourne, VIC, Australia., Coman D; Queensland Children's Hospital, Brisbane, QLD, Australia; Wesley Hospital, Brisbane, QLD, Australia; University of Queensland, Brisbane, QLD, Australia., Cowie S; Victorian Clinical Genetics Services, Melbourne, VIC, Australia., Cowley M; Children's Cancer Institute, University of New South Wales, NSW, Australia., de Silva MG; The University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia., Delatycki MB; The University of Melbourne, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia., Edwards S; Harry Perkins Institute of Medical Research, University of Western Australia, Perth, WA, Australia., Ellaway C; S1ydney Children's Hospitals Network, Westmead, NSW, Australia; University of Sydney, Sydney, NSW, Australia., Fahey MC; Royal Melbourne Hospital, Melbourne, VIC, Australia., Finlay K; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Fletcher J; Royal Adelaide Hospital, Adelaide, SA, Australia., Frajman LE; The University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia., Frazier AE; The University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia., Gayevskiy V; Garvan Institute of Medical Research, Sydney, NSW, Australia., Ghaoui R; Royal Adelaide Hospital, Adelaide, SA, Australia., Goel H; John Hunter Hospital, Newcastle, NSW, Australia., Goranitis I; The University of Melbourne, Melbourne, VIC, Australia; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Haas M; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Hock DH; The University of Melbourne, Melbourne, VIC, Australia; Bio 21 Molecular Science and Biotechnology Institute, Melbourne, VIC, Australia; Department of Genetic Medicine, Westmead Hospital, Westmead, NSW, Australia., Howting D; Harry Perkins Institute of Medical Research, Perth, WA, Australia., Jackson MR; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Kava MP; Perth Children's Hospital, Perth, WA, Australia., Kemp M; The Australian e-Health Research Centre, CSIRO, Brisbane, QLD, Australia., King-Smith S; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Lake NJ; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Yale School of Medicine, New Haven, CT., Lamont PJ; Perth Children's Hospital, Perth, WA, Australia; Royal Perth Hospital, Perth, WA, Australia., Lee J; The University of Melbourne, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia; Royal Children's Hospital, Melbourne, VIC, Australia., Long JC; Australian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia., MacShane M; Harry Perkins Institute of Medical Research, Perth, WA, Australia., Madelli EO; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Martin EM; Sydney Children's Hospitals Network, Westmead, NSW, Australia., Marum JE; Victorian Clinical Genetics Services, Melbourne, VIC, Australia; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia., Mattiske T; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., McGill J; Queensland Children's Hospital, Brisbane, QLD, Australia., Metke A; The Australian e-Health Research Centre, CSIRO, Brisbane, QLD, Australia., Murray S; Mito Foundation, Sydney, NSW, Australia., Panetta J; Royal Melbourne Hospital, Melbourne, VIC, Australia., Phillips LK; Mater Hospital, South Brisbane, QLD, Australia., Quinn MCJ; Australian Genomics, Genetic Health Queensland, Brisbane, QLD, Australia., Ryan MT; Monash University, Melbourne, VIC, Australia., Schenscher S; Women's and Children's Hospital, Adelaide, SA, Australia., Simons C; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, NSW, Australia., Smith N; Department of Neurology and Clinical Neurophysiology, Women's and Children's Hospital, Adelaide, SA, Australia; Discipline of Paediatrics, University of Adelaide, Adelaide, SA, Australia., Stroud DA; The University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia; Bio 21 Molecular Science and Biotechnology Institute, Melbourne, VIC, Australia., Tchan MC; Department of Genetic Medicine, Westmead Hospital, Westmead, NSW, Australia; Faculty of Medicine and Health, University of Sydney, NSW, Australia., Tom M; Genetic Health Queensland, Brisbane, QLD, Australia., Wallis M; Tasmanian Clinical Genetics Service, Hobart, TAS, Australia; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia; Royal Hobart Hospital, Hobart, TAS, Australia., Ware TL; Royal Hobart Hospital, Hobart, TAS, Australia., Welch AE; Murdoch Children's Research Institute, Melbourne, VIC, Australia., Wools C; Royal Melbourne Hospital, Melbourne, VIC, Australia., Wu Y; The University of Melbourne, Melbourne, VIC, Australia., Christodoulou J; The University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia. Electronic address: john.christodoulou@mcri.edu.au., Thorburn DR; The University of Melbourne, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia. Electronic address: david.thorburn@mcri.edu.au.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 19, pp. 101271. Date of Electronic Publication: 2024 Sep 19.
Autor:
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.
Publikováno v:
Nature communications [Nat Commun] 2024 Jul 27; Vol. 15 (1), pp. 6327. Date of Electronic Publication: 2024 Jul 27.
Autor:
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.
Publikováno v:
Nature genetics [Nat Genet] 2024 Jul; Vol. 56 (7), pp. 1366-1370. Date of Electronic Publication: 2024 Jun 27.