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. |
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| 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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| ISSN: | 1473-4230 |
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| DOI: | 10.1007/s12311-025-01867-2 |
