Zobrazeno 1 - 10
of 718
pro vyhledávání: '"Roxburgh RH"'
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.
Autor:
Bournazos AM; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Riley LG; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Rare Diseases Functional Genomics, Kids Research, Sydney Children's Hospital Network and Children's Medical Research Institute, Westmead, New South Wales, Australia., Bommireddipalli S; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Ades L; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Akesson LS; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Department of Medicine, University of Melbourne, Parkville, Victoria, Australia; Department of Pathology, University of Melbourne, Parkville, Victoria, Australia; Department of Genomic Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Al-Shinnag M; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia; The University of Queensland, Herston, Queensland, Australia., Alexander SI; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Pediatric Nephrology, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Archibald AD; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Balasubramaniam S; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Western Sydney Genetics Program, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Berman Y; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia; Northern Clinical School, Royal North Shore Hospital, St Leonards, New South Wales, Australia., Beshay V; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Boggs K; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Australian Genomics Health Alliance, Parkville, Victoria, Australia; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia., Bojadzieva J; Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia., Brown NJ; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Bryen SJ; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Buckley MF; NSW Health Pathology, Randwick, New South Wales, Australia., Chong B; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia., Dawes R; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Delatycki M; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Donaldson L; The Royal Melbourne Hospital, Parkville, Victoria, Australia., Downie L; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; The Royal Melbourne Hospital, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Edwards C; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia., Edwards M; Department of Paediatrics, School of Medicine, Western Sydney University, Penrith South, New South Wales, Australia., Engel A; ACT Genetic Service, ACT Health, The Canberra Hospital, Garran, ACT, Australia., Ewans LJ; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia; Central Clinical School, The University of Sydney, Camperdown, New South Wales, Australia., Faiz F; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia., Fennell A; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Monash Genetics, Monash Health, Clayton, Victoria, Australia., Field M; Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia., Freckmann ML; Department of Clinical Genetics, The Canberra Hospital, Garran, ACT, Australia., Gallacher L; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Gear R; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Goel H; Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia; The University of Newcastle, Callaghan, New South Wales, Australia., Goh S; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia., Goodwin L; Department of Clinical Genetics, Nepean Hospital, Kingswood, New South Wales, Australia., Hanna B; Department of Genomic Medicine, Westmead Hospital, Westmead, New South Wales, Australia., Harraway J; Sullivan Nicolaides Pathology, Bowen Hills, Queensland, Australia., Higgins M; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Ho G; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Molecular Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Hopper BK; Forster Genetics, Forster, New South Wales, Australia., Horton AE; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Monash Genetics, Monash Health, Clayton, Victoria, Australia; Monash Heart and Monash Children's Hospital, Monash Health, Clayton, Victoria, Australia; Monash Cardiovascular Research Centre, Clayton, Victoria, Australia., Hunter MF; Monash Genetics, Monash Health, Clayton, Victoria, Australia; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Huq AJ; Department of Medicine, University of Melbourne, Parkville, Victoria, Australia; The Royal Melbourne Hospital, Parkville, Victoria, Australia., Josephi-Taylor S; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Genomic Medicine, Westmead Hospital, Westmead, New South Wales, Australia., Joshi H; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Kirk E; NSW Health Pathology, Randwick, New South Wales, Australia; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia., Krzesinski E; Monash Genetics, Monash Health, Clayton, Victoria, Australia; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Kumar KR; Department of Neurogenetics, Kolling Institute, Faculty of Medicine and Health, University of Sydney, Royal North Shore Hospital, St Leonards, New South Wales, Australia; Translational Genomics, Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, New South Wales, Australia., Lemckert F; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Leventer RJ; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia., Lindsey-Temple SE; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia., Lunke S; Department of Pathology, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Ma A; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Macaskill S; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Mallawaarachchi A; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia; Division of Genomics and Epigenetics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Marty M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Marum JE; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., McCarthy HJ; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Pediatric Nephrology, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Menezes MP; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., McLean A; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia., Milnes D; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Mohammad S; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Mowat D; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia., Niaz A; Rare Diseases Functional Genomics, Kids Research, Sydney Children's Hospital Network and Children's Medical Research Institute, Westmead, New South Wales, Australia., Palmer EE; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia., Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Patel SG; School of Medicine, The University of Auckland, Auckland, New Zealand., Phelan D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Pinner JR; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia., Rajagopalan S; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia., Regan M; Monash Genetics, Monash Health, Clayton, Victoria, Australia; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Rodgers J; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Rodrigues M; Department of Neurology, Auckland City Hospital, Auckland, New Zealand., Roxburgh RH; Department of Neurology, Auckland City Hospital, Auckland, New Zealand., Sachdev R; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia., Roscioli T; NSW Health Pathology, Randwick, New South Wales, Australia; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; Neuroscience Research Australia, University of New South Wales, Randwick, New South Wales, Australia., Samarasekera R; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Sandaradura SA; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Savva E; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Schindler T; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia; Newborn Care, Royal Hospital for Women, Randwick, New South Wales, Australia., Shah M; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Sinnerbrink IB; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, Nepean Hospital, Kingswood, New South Wales, Australia., Smith JM; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Smith RJ; Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, United States., Springer A; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Stark Z; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Strom SP; Fulgent Genetics, Temple City, CA., Sue CM; Department of Neurogenetics, Kolling Institute, Faculty of Medicine and Health, University of Sydney, Royal North Shore Hospital, St Leonards, New South Wales, Australia., Tan K; Department of Paediatrics, Monash University, Clayton, Victoria, Australia; Monash Newborn, Monash Children's Hospital, Clayton, Victoria, Australia., Tan TY; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Tantsis E; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Tchan MC; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Genomic Medicine, Westmead Hospital, Westmead, New South Wales, Australia., Thompson BA; Department of Pathology, The Royal Melbourne Hospital, Parkville, Victoria, Australia; Department of Clinical Pathology, University of Melbourne, Parkville, Victoria, Australia., Trainer AH; Department of Medicine, University of Melbourne, Parkville, Victoria, Australia; Department of Genomic Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia., van Spaendonck-Zwarts K; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Walsh R; NSW Health Pathology, Randwick, New South Wales, Australia., Warwick L; ACT Genetic Service, ACT Health, The Canberra Hospital, Garran, ACT, Australia., White S; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia., White SM; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Williams MG; Mater Research Institute, The University of Queensland, South Brisbane, Queensland, Australia., Wilson MJ; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Wong WK; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Wright DC; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Cytogenetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Yap P; Northern Hub, Genetic Health Service NZ, Auckland, New Zealand., Yeung A; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Young H; Department of Intensive Care, Austin Hospital, Heidelberg, Victoria, Australia., Jones KJ; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Bennetts B; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Molecular Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Cooper ST; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The Children's Medical Research Institute, Westmead, New South Wales, Australia. Electronic address: sandra.cooper@sydney.edu.au.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jan; Vol. 24 (1), pp. 130-145. Date of Electronic Publication: 2021 Nov 30.
Autor:
Patel SG; Auckland Hospital, Auckland, New Zealand., Buchanan CM; Auckland Hospital, Auckland, New Zealand., Mulroy E; Auckland Hospital, Auckland, New Zealand.; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom., Simpson M; Auckland Hospital, Auckland, New Zealand., Reid HA; Canterbury Health Laboratories, Christchurch, New Zealand., Drake KM; Canterbury Health Laboratories, Christchurch, New Zealand., Merriman ME; Biochemistry Department, University of Otago, Dunedin, New Zealand., Phipps-Green A; Biochemistry Department, University of Otago, Dunedin, New Zealand., Cadzow M; Biochemistry Department, University of Otago, Dunedin, New Zealand., Merriman TR; Biochemistry Department, University of Otago, Dunedin, New Zealand.; Division of Clinical Immunology and Rheumatology, University of Alabama, Birmingham, Alabama, USA., Anderson NE; Auckland Hospital, Auckland, New Zealand., Child N; Auckland Hospital, Auckland, New Zealand., Barber PA; Auckland Hospital, Auckland, New Zealand., Roxburgh RH; Auckland Hospital, Auckland, New Zealand.; Centre for Brain Research Neurogenetics Research Clinic, University of Auckland, Auckland, New Zealand.
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Sep; Vol. 36 (9), pp. 2199-2200. Date of Electronic Publication: 2021 Jun 22.