Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Roxburgh RH"'
Autor:
Roxburgh RH, Seaman SR, Masterman T, Hensiek AE, Sawcer SJ, Vukusic S, Achiti I, Confavreux C, Coustans M, le Page E, Edan G, McDonnell GV, Hawkins S, Trojano M, Liguori M, Cocco E, Marrosu MG, Tesser F, Leone MA, Weber A, Zipp F, Miterski B
Publikováno v:
Neurology 64(7) (2005): 1144–1151.
info:cnr-pdr/source/autori:Roxburgh RH, Seaman SR, Masterman T, Hensiek AE, Sawcer SJ, Vukusic S, Achiti I, Confavreux C, Coustans M, le Page E, Edan G, McDonnell GV, Hawkins S, Trojano M, Liguori M, Cocco E, Marrosu MG, Tesser F, Leone MA, Weber A, Zipp F, Miterski B, et al./titolo:Multiple Sclerosis Severity Score: using disability and disease duration to rate disease severity./doi:/rivista:Neurology/anno:2005/pagina_da:1144/pagina_a:1151/intervallo_pagine:1144–1151/volume:64(7)
info:cnr-pdr/source/autori:Roxburgh RH, Seaman SR, Masterman T, Hensiek AE, Sawcer SJ, Vukusic S, Achiti I, Confavreux C, Coustans M, le Page E, Edan G, McDonnell GV, Hawkins S, Trojano M, Liguori M, Cocco E, Marrosu MG, Tesser F, Leone MA, Weber A, Zipp F, Miterski B, et al./titolo:Multiple Sclerosis Severity Score: using disability and disease duration to rate disease severity./doi:/rivista:Neurology/anno:2005/pagina_da:1144/pagina_a:1151/intervallo_pagine:1144–1151/volume:64(7)
BACKGROUND: There is no consensus method for determining progression of disability in patients with multiple sclerosis (MS) when each patient has had only a single assessment in the course of the disease. METHODS: Using data from two large longitudin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=cnr_________::b28771172a13c7b2a54b2600270e8019
https://publications.cnr.it/doc/49922
https://publications.cnr.it/doc/49922
Akademický článek
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Autor:
Patel SG; Department of Neurology, Auckland City Hospital, New Zealand., Zhang T; Department of Neurology, Auckland City Hospital, New Zealand., Liem B; Department of Neurology, Auckland City Hospital, New Zealand., Sundram F; Department of Psychological Medicine, The University of Auckland, New Zealand., Roxburgh RH; Department of Neurology, Auckland City Hospital, New Zealand; Department of Medicine, The University of Auckland, New Zealand., Barber PA; Department of Neurology, Auckland City Hospital, New Zealand; Department of Medicine, The University of Auckland, New Zealand.
Publikováno v:
The New Zealand medical journal [N Z Med J] 2024 Jul 19; Vol. 137 (1599), pp. 49-54. Date of Electronic Publication: 2024 Jul 19.
Autor:
Zhang T; Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand. Electronic address: tonyz@adhb.govt.nz., Chancellor A; Tauranga Hospital, New Zealand Te Whatu Ora Hauora a Toi, Bay of Plenty, New Zealand., Liem B; Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand., Turner C; Department of Anatomical Pathology and Cytology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand., Hutchinson D; Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand., Wong E; Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand., Glamuzina E; Adult and Paediatric Metabolic Service, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand., Hong JB; Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand., Cleland J; Tauranga Hospital, New Zealand Te Whatu Ora Hauora a Toi, Bay of Plenty, New Zealand., Child N; Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand., Roxburgh RH; Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand., Patel S; Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand., Lee YC; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Neurology and Brain Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan., Liao YC; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Neurology and Brain Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan., Anderson NE; Department of Neurology, Auckland City Hospital, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.
Publikováno v:
Journal of the neurological sciences [J Neurol Sci] 2024 May 15; Vol. 460, pp. 122987. Date of Electronic Publication: 2024 Apr 03.
Autor:
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.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 May 03; Vol. 147 (5), pp. 1887-1898.
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Autor:
Marchant RG; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia., Bryen SJ; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia., Bahlo M; Functional Neuromics, Children's Medical Research Institute, Westmead, New South Wales, Australia.; Population Health and Immunity, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia., Cairns A; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.; Neurosciences Department, Queensland Children's Hospital, Brisbane, Queensland, Australia., Chao KR; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Corbett A; Neurology Department, Repatriation General Hospital Concord, Concord, New South Wales, Australia., Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, WA, Australia., Ganesh VS; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Neuromuscular Division, Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Ghaoui R; Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Department of Genetics & Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Jones KJ; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Clinical Genetics, Children's Hospital at Westmead, Westmead, New South Wales, Australia., Kornberg AJ; Department of Neurology, Royal Children's Hospital Melbourne, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Lek M; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA., Liang C; Department of Neurology, Royal North Shore Hospital, St Leonards, New South Wales, Australia.; Neurogenetics, Northern Clinical School, Kolling Institute, The University of Sydney, Sydney, New South Wales, Australia., MacArthur DG; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Centre for Population Genomics, Garvan Institute of Medical Research/University of New South Wales, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Oates EC; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Randwick, New South Wales, Australia., O'Donnell-Luria A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA., O'Grady GL; Starship Children's Health, Auckland District Health Board, Auckland, New Zealand., Osei-Owusu IA; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Rafehi H; Functional Neuromics, Children's Medical Research Institute, Westmead, New South Wales, Australia.; Population Health and Immunity, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia., Reddel SW; Neurology Department, Repatriation General Hospital Concord, Concord, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia., Roxburgh RH; Department of Neurology, Auckland District Health Board, Auckland, New Zealand.; Centre of Brain Research Neurogenetics Research Clinic, University of Auckland, Auckland, New Zealand., Ryan MM; Department of Neurology, Royal Children's Hospital Melbourne, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Sandaradura SA; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Clinical Genetics, Children's Hospital at Westmead, Westmead, New South Wales, Australia., Scott LW; Functional Neuromics, Children's Medical Research Institute, Westmead, New South Wales, Australia.; Population Health and Immunity, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia., Valkanas E; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, USA., Weisburd B; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Young H; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Department of Neurology, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Paediatrics, Royal North Shore Hospital, St Leonards, New South Wales, Australia., Evesson FJ; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia., Waddell LB; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia., Cooper ST; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 May; Vol. 11 (5), pp. 1250-1266. Date of Electronic Publication: 2024 Mar 27.
Autor:
Scriba CK; Rare Genetic Diseases and Functional Genomics Group, Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA 6009, Australia.; Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, WA 6009, Australia., Stevanovski I; Genomics Pillar, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW 2010, Australia., Chintalaphani SR; Genomics Pillar, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW 2010, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW 2050, Australia., Gamaarachchi H; Genomics Pillar, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW 2010, Australia.; School of Computer Science and Engineering, University of New South Wales, Sydney, NSW 2052, Australia., Ghaoui R; Department of Neurology, Royal Adelaide Hospital, Adelaide, SA 5000, Australia.; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia., Ghia D; UWA Medical School, University of Western Australia, Perth, WA 6009, Australia.; Neurology and Stroke Unit, Fiona Stanley Hospital, Murdoch, WA 6150, Australia., Henderson RD; Centre for Clinical Research, University of Queensland, Herston, QLD 4006, Australia., Jordan N; Department of Neurology, Fiona Stanley Hospital, Perth, WA 6150, Australia., Winkel A; Department of Neurosciences, Griffith University, Sunshine Coast University Hospital, Mount Gravatt, QLD 4111, Australia., Lamont PJ; Neurogenetic Unit, Royal Perth Hospital, Perth, WA 6000, Australia., Rodrigues MJ; Neurology Department, Auckland City Hospital, Auckland, New Zealand., Roxburgh RH; Centre for Brain Research Neurogenetics Research Clinic, University of Auckland, Auckland, New Zealand., Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Laing NG; Preventive Genetics Group, Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA 6009, Australia., Deveson IW; Genomics Pillar, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW 2010, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW 2050, Australia., Davis MR; Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, WA 6009, Australia., Ravenscroft G; Rare Genetic Diseases and Functional Genomics Group, Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA 6009, Australia.
Publikováno v:
Brain communications [Brain Commun] 2023 Jul 25; Vol. 5 (4), pp. fcad208. Date of Electronic Publication: 2023 Jul 25 (Print Publication: 2023).
Autor:
Taylor RL; Centre for Brain Research, Neurogenetics Clinic, University of Auckland, Auckland, New Zealand.; Department of Physiology, The University of Auckland, Auckland, New Zealand., Antunovich T; Centre for Brain Research, Neurogenetics Clinic, University of Auckland, Auckland, New Zealand., Chang TMH; Centre for Brain Research, Neurogenetics Clinic, University of Auckland, Auckland, New Zealand., Rodrigues M; Centre for Brain Research, Neurogenetics Clinic, University of Auckland, Auckland, New Zealand.; Neurology Department, Auckland City Hospital, Auckland, New Zealand., Baker A; Centre for Brain Research, Neurogenetics Clinic, University of Auckland, Auckland, New Zealand., Bergin P; Neurology Department, Auckland City Hospital, Auckland, New Zealand., McGuinness B; Radiology Department, Auckland City Hospital, Auckland, New Zealand., Roxburgh RH; Centre for Brain Research, Neurogenetics Clinic, University of Auckland, Auckland, New Zealand. Richard.roxburgh@auckland.ac.nz.; Neurology Department, Auckland City Hospital, Auckland, New Zealand. Richard.roxburgh@auckland.ac.nz.
Publikováno v:
Journal of neurology [J Neurol] 2023 Feb; Vol. 270 (2), pp. 1154-1158. Date of Electronic Publication: 2022 Oct 22.
Autor:
Dashnow H; Department of Human Genetics, University of Utah, Salt Lake City, UT, USA., Pedersen BS; Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.; Utrecht University Medical Center, Utrecht, The Netherlands., Hiatt L; Department of Human Genetics, University of Utah, Salt Lake City, UT, USA., Brown J; Department of Human Genetics, University of Utah, Salt Lake City, UT, USA., Beecroft SJ; Pawsey Supercomputing Research Centre, Kensington, WA, Australia.; Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Perth, WA, Australia., Ravenscroft G; Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Perth, WA, Australia., LaCroix AJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USA., Lamont P; Neurogenetic Unit, Royal Perth Hospital, Perth, WA, Australia., Roxburgh RH; Neurology, Auckland City Hospital, Auckland, New Zealand., Rodrigues MJ; Neurology, Auckland City Hospital, Auckland, New Zealand.; Centre for Brain Research, University of Auckland, Auckland, New Zealand., Davis M; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, Western Australian Department of Health, Nedlands, Australia., Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USA., Laing NG; Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Perth, WA, Australia.; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, Western Australian Department of Health, Nedlands, Australia., Quinlan AR; Department of Human Genetics, University of Utah, Salt Lake City, UT, USA. aquinlan@genetics.utah.edu.
Publikováno v:
Genome biology [Genome Biol] 2022 Dec 14; Vol. 23 (1), pp. 257. Date of Electronic Publication: 2022 Dec 14.
Autor:
Yong VTY; Department of Neurology, Auckland City Hospital, Auckland, New Zealand., Caldwell J; Department of Radiology, Auckland City Hospital, Auckland, New Zealand., Ershad S; Department of Cardiology, Auckland City Hospital, Auckland, New Zealand., Roxburgh RH; Department of Neurology, Auckland City Hospital, Auckland, New Zealand.
Publikováno v:
Internal medicine journal [Intern Med J] 2022 Aug; Vol. 52 (8), pp. 1419-1422.