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

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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
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Items – Name: Title
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  Data: An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
– Name: Author
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  Data: <searchLink fieldCode="AU" term="%22Rafehi+H%22">Rafehi H</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Read+J%22">Read J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Szmulewicz+DJ%22">Szmulewicz DJ</searchLink>; Cerebellar Ataxia Clinic, Eye and Ear Hospital, Melbourne, VIC, Australia; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Davies+KC%22">Davies KC</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Snell+P%22">Snell P</searchLink>; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Fearnley+LG%22">Fearnley LG</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Scott+L%22">Scott L</searchLink>; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Thomsen+M%22">Thomsen M</searchLink>; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Gillies+G%22">Gillies G</searchLink>; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Pope+K%22">Pope K</searchLink>; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Bennett+MF%22">Bennett MF</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Munro+JE%22">Munro JE</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ngo+KJ%22">Ngo KJ</searchLink>; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Chen+L%22">Chen L</searchLink>; Alfred Hospital, Department of Neurology, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Wallis+MJ%22">Wallis MJ</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Butler+EG%22">Butler EG</searchLink>; Peninsula Health, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Kumar+KR%22">Kumar KR</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Wu+KH%22">Wu KH</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Tomlinson+SE%22">Tomlinson SE</searchLink>; School of Medicine, University of Notre Dame, Sydney, NSW, Australia; Department of Neurology, St Vincent's Hospital, Darlinghurst, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Tisch+S%22">Tisch S</searchLink>; School of Medicine, University of New South Wales, Sydney, NSW, Australia; Department of Neurology, St Vincent's Hospital, Darlinghurst, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Malhotra+A%22">Malhotra A</searchLink>; Department of Neuroscience, University Hospital Geelong, Geelong, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Lee-Archer+M%22">Lee-Archer M</searchLink>; Launceston General Hospital, Tasmanian Health Service, Launceston, TAS, Australia.<br /><searchLink fieldCode="AU" term="%22Dolzhenko+E%22">Dolzhenko E</searchLink>; Illumina Inc, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Eberle+MA%22">Eberle MA</searchLink>; Illumina Inc, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Roberts+LJ%22">Roberts LJ</searchLink>; Department of Neurology and Neurological Research, St. Vincent's Hospital, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Fogel+BL%22">Fogel BL</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Brüggemann+N%22">Brüggemann N</searchLink>; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University Medical Center Schleswig-Holstein, Campus Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Lohmann+K%22">Lohmann K</searchLink>; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Delatycki+MB%22">Delatycki MB</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bahlo+M%22">Bahlo M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lockhart+PJ%22">Lockhart PJ</searchLink>; 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.
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