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Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.

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Title: Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.
Authors: Davies KC; Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, 3052, Australia., Rafehi H; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, 3052, Australia., Fearnley LG; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, 3052, Australia., Snell P; Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia., Gillies G; Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia., Field TA; Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia., Halmágyi GM; Neurology Department, Royal Prince Alfred Hospital, Camperdown, NSW, 2050, Australia.; Central Clinical School, University of Sydney, Camperdown, NSW, 2050, Australia., Kumar KR; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, NSW, 2139, Australia.; Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW, 2050, Australia.; Genomics and Inherited Disease Program, The Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia.; School of Medicine, University of New South Wales, Sydney, NSW, 2052, Australia., Pope K; Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia., Smyth R; St Vincent's Clinical Genomics, St Vincent's Hospital, Darlinghurst, NSW, 2010, Australia., Tomlinson SE; School of Medicine, University of Notre Dame, Darlinghurst, NSW, 2010, Australia.; Department of Neurology, St Vincent's Hospital, NSW, 2010, Darlinghurst, Australia., Tisch S; School of Medicine, University of New South Wales, Sydney, NSW, 2052, Australia.; St Vincent's Clinical Genomics, St Vincent's Hospital, Darlinghurst, NSW, 2010, Australia.; Department of Neurology, St Vincent's Hospital, NSW, 2010, Darlinghurst, Australia., Tang CC; Balance Disorders and Ataxia Service, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, 3002, Australia., Watson SRD; Prince of Wales Clinical School, University of New South Wales, Randwick, NSW, 2013, Australia., Wellings T; Department of Neurology, John Hunter Hospital, New Lambton Heights, NSW, 2305, Australia., Wu KHC; St Vincent's Clinical Genomics, St Vincent's Hospital, Darlinghurst, NSW, 2010, Australia.; School of Medicine, University of Notre Dame, Darlinghurst, NSW, 2010, Australia.; Discipline of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Camperdown, NSW, 2050, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, St Vincent's Clinical Campus, UNSW, Darlinghurst, NSW, 2010, Australia., Szmulewicz DJ; Balance Disorders and Ataxia Service, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, 3002, Australia.; NeuroMovement Laboratory, Bionics Institute, East Melbourne, VIC, 3002, Australia., Delatycki MB; Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, 3052, Australia., Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, 3052, Australia., Lockhart PJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia. paul.lockhart@mcri.edu.au.; Department of Paediatrics, The University of Melbourne, Parkville, 3052, Australia. paul.lockhart@mcri.edu.au.
Source: Cerebellum (London, England) [Cerebellum] 2025 Jun 07; Vol. 24 (4), pp. 111. Date of Electronic Publication: 2025 Jun 07.
Publication Type: Journal Article
Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Electronic Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.
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  Data: <searchLink fieldCode="AU" term="%22Davies+KC%22">Davies KC</searchLink>; Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, 3052, Australia.<br /><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, 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, 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, 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Snell+P%22">Snell P</searchLink>; Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia.<br /><searchLink fieldCode="AU" term="%22Gillies+G%22">Gillies G</searchLink>; Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia.<br /><searchLink fieldCode="AU" term="%22Field+TA%22">Field TA</searchLink>; Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia.<br /><searchLink fieldCode="AU" term="%22Halmágyi+GM%22">Halmágyi GM</searchLink>; Neurology Department, Royal Prince Alfred Hospital, Camperdown, NSW, 2050, Australia.; Central Clinical School, University of Sydney, Camperdown, NSW, 2050, Australia.<br /><searchLink fieldCode="AU" term="%22Kumar+KR%22">Kumar KR</searchLink>; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, NSW, 2139, Australia.; Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW, 2050, Australia.; Genomics and Inherited Disease Program, The Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia.; School of Medicine, University of New South Wales, Sydney, NSW, 2052, Australia.<br /><searchLink fieldCode="AU" term="%22Pope+K%22">Pope K</searchLink>; Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia.<br /><searchLink fieldCode="AU" term="%22Smyth+R%22">Smyth R</searchLink>; St Vincent's Clinical Genomics, St Vincent's Hospital, Darlinghurst, NSW, 2010, Australia.<br /><searchLink fieldCode="AU" term="%22Tomlinson+SE%22">Tomlinson SE</searchLink>; School of Medicine, University of Notre Dame, Darlinghurst, NSW, 2010, Australia.; Department of Neurology, St Vincent's Hospital, NSW, 2010, Darlinghurst, Australia.<br /><searchLink fieldCode="AU" term="%22Tisch+S%22">Tisch S</searchLink>; School of Medicine, University of New South Wales, Sydney, NSW, 2052, Australia.; St Vincent's Clinical Genomics, St Vincent's Hospital, Darlinghurst, NSW, 2010, Australia.; Department of Neurology, St Vincent's Hospital, NSW, 2010, Darlinghurst, Australia.<br /><searchLink fieldCode="AU" term="%22Tang+CC%22">Tang CC</searchLink>; Balance Disorders and Ataxia Service, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, 3002, Australia.<br /><searchLink fieldCode="AU" term="%22Watson+SRD%22">Watson SRD</searchLink>; Prince of Wales Clinical School, University of New South Wales, Randwick, NSW, 2013, Australia.<br /><searchLink fieldCode="AU" term="%22Wellings+T%22">Wellings T</searchLink>; Department of Neurology, John Hunter Hospital, New Lambton Heights, NSW, 2305, Australia.<br /><searchLink fieldCode="AU" term="%22Wu+KHC%22">Wu KHC</searchLink>; St Vincent's Clinical Genomics, St Vincent's Hospital, Darlinghurst, NSW, 2010, Australia.; School of Medicine, University of Notre Dame, Darlinghurst, NSW, 2010, Australia.; Discipline of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Camperdown, NSW, 2050, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, St Vincent's Clinical Campus, UNSW, Darlinghurst, NSW, 2010, Australia.<br /><searchLink fieldCode="AU" term="%22Szmulewicz+DJ%22">Szmulewicz DJ</searchLink>; Balance Disorders and Ataxia Service, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, 3002, Australia.; NeuroMovement Laboratory, Bionics Institute, East Melbourne, VIC, 3002, Australia.<br /><searchLink fieldCode="AU" term="%22Delatycki+MB%22">Delatycki MB</searchLink>; Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, 3052, 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, 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Lockhart+PJ%22">Lockhart PJ</searchLink>; Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, VIC, 3052s, Australia. paul.lockhart@mcri.edu.au.; Department of Paediatrics, The University of Melbourne, Parkville, 3052, Australia. paul.lockhart@mcri.edu.au.
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  Data: <searchLink fieldCode="JN" term="%22101089443%22">Cerebellum (London, England)</searchLink> [Cerebellum] 2025 Jun 07; Vol. 24 (4), pp. 111. <i>Date of Electronic Publication: </i>2025 Jun 07.
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