An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.

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Bibliographic Details
Title: An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Authors: 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, Australia., 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 Health, Heidelberg, VIC, Australia., 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 Dame, Sydney, NSW, Australia., 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.
Source: American journal of human genetics [Am J Hum Genet] 2023 Jan 05; Vol. 110 (1), pp. 105-119. Date of Electronic Publication: 2022 Dec 08.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1537-6605
DOI:10.1016/j.ajhg.2022.11.015