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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Rafehi, Haloom; Read, Justin; Szmulewicz, David J; Davies, Kayli C; Snell, Penny; Fearnley, Liam G; Scott, Liam; Thomsen, Mirja; Gillies, Greta; Pope, Kate; Bennett, Mark F; Munro, Jacob E; Ngo, Kathie J; Chen, Luke; Wallis, Mathew J; Butler, Ernest G; Kumar, Kishore R; Wu, Kathy Hc; Tomlinson, Susan E; Tisch, Stephen; Malhotra, Abhishek; Lee-Archer, Matthew; Dolzhenko, Egor; Eberle, Michael A; Roberts, Leslie J; Fogel, Brent L; Brüggemann, Norbert; Lohmann, Katja; Delatycki, Martin B; Bahlo, Melanie; Lockhart, Paul J.
Afiliação
  • Rafehi H; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia.
  • Read J; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia.
  • Szmulewicz DJ; Cerebellar Ataxia Clinic, Eye and Ear Hospital, Melbourne, VIC, Australia; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, VIC, Australia.
  • Davies KC; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia.
  • Snell P; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
  • Fearnley LG; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Austra
  • Scott L; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia.
  • Thomsen M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
  • Gillies G; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
  • Pope K; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
  • Bennett MF; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Healt
  • Munro JE; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia.
  • Ngo KJ; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, CA, USA.
  • Chen L; Alfred Hospital, Department of Neurology, Melbourne, VIC, Australia.
  • Wallis MJ; Clinical Genetics Service, Austin Health, Melbourne, VIC, Australia; Department of Medicine, University of Melbourne, Austin Health, Melbourne, VIC, Australia; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.
  • Butler EG; Peninsula Health, Melbourne, VIC, Australia.
  • Kumar KR; Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia; Molecular Medicine Laboratory and Department of Neurology, Concord Repatriation General Hospital, Concord, NSW, Australia; Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Wu KH; School of Medicine, University of New South Wales, Sydney, NSW, Australia; Clinical Genomics, St Vincent's Hospital, Darlinghurst, NSW, Australia; Discipline of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia; School of Medicine, University of Notre Dam
  • Tomlinson SE; School of Medicine, University of Notre Dame, Sydney, NSW, Australia; Department of Neurology, St Vincent's Hospital, Darlinghurst, NSW, Australia.
  • Tisch S; School of Medicine, University of New South Wales, Sydney, NSW, Australia; Department of Neurology, St Vincent's Hospital, Darlinghurst, NSW, Australia.
  • Malhotra A; Department of Neuroscience, University Hospital Geelong, Geelong, VIC, Australia.
  • Lee-Archer M; Launceston General Hospital, Tasmanian Health Service, Launceston, TAS, Australia.
  • Dolzhenko E; Illumina Inc, San Diego, CA, USA.
  • Eberle MA; Illumina Inc, San Diego, CA, USA.
  • Roberts LJ; Department of Neurology and Neurological Research, St. Vincent's Hospital, Melbourne, VIC, Australia.
  • Fogel BL; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, CA, USA; Departments of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, CA, USA.
  • Brüggemann N; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University Medical Center Schleswig-Holstein, Campus Lübeck, Germany.
  • Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
  • Delatycki MB; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.
  • Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia. Electronic address: bahlo@wehi.edu.au.
  • Lockhart PJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia. Electronic address: paul.lockhart@mcri.edu.au.
Am J Hum Genet ; 110(1): 105-119, 2023 01 05.
Article em En | MEDLINE | ID: mdl-36493768
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia de Friedreich / Ataxia Cerebelar / Expansão das Repetições de Trinucleotídeos / Fatores de Crescimento de Fibroblastos Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia de Friedreich / Ataxia Cerebelar / Expansão das Repetições de Trinucleotídeos / Fatores de Crescimento de Fibroblastos Idioma: En Ano de publicação: 2023 Tipo de documento: Article