{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:44:21Z","timestamp":1790045061457,"version":"4.0.1"},"reference-count":44,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T00:00:00Z","timestamp":1736121600000},"content-version":"vor","delay-in-days":13,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Cyprus Telethon","award":["73285"],"award-info":[{"award-number":["73285"]}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["189963"],"award-info":[{"award-number":["189963"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100024730","name":"Foundation Groupe Monaco","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100024730","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institutes of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["2R01NS072248-11A1"],"award-info":[{"award-number":["2R01NS072248-11A1"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,12,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Dominantly inherited intronic GAA repeat expansions in the fibroblast growth factor 14 gene have recently been shown to cause spinocerebellar ataxia 27B. Currently, the pathogenic threshold of (GAA)\u2265300 repeat units is considered highly penetrant, while (GAA)250\u2013299 is likely pathogenic with reduced penetrance. This study investigated the frequency of the GAA repeat expansion and the phenotypic profile in a Cypriot cohort with unresolved late-onset cerebellar ataxia. We analysed this trinucleotide repeat in 155 patients with late-onset cerebellar ataxia and 227 non-neurological disease controls. The repeat locus was examined by long-range PCR followed by fragment analysis using capillary electrophoresis, agarose gel electrophoresis and automated electrophoresis. A comprehensive comparison of all three electrophoresis techniques was conducted. Additionally, bidirectional repeat-primed PCRs and Sanger sequencing were carried out to confirm the absence of any interruptions or non-GAA motifs in the expanded alleles. The (GAA)\u2265250 repeat expansion was present in 12 (7.7%) patients. The average age at disease onset was 60 \u00b1 13.5 years. The earliest age of onset was observed in a patient with a (GAA)287 repeat expansion, with ataxia symptoms appearing at 25 years of age. All patients with spinocerebellar ataxia 27B displayed symptoms of gait and appendicular ataxia. Nystagmus was observed in 41.7% of the patients, while 58.3% exhibited dysarthria. Our findings indicate that spinocerebellar ataxia 27B represents the predominant aetiology of autosomal dominant cerebellar ataxia in the Cypriot population, as this is the first dominant repeat expansion ataxia type detected in this population. Given our results and existing research, we propose including fibroblast growth factor 14 GAA repeat expansion testing as a first-tier genetic diagnostic approach for patients with late-onset cerebellar ataxia.<\/jats:p>","DOI":"10.1093\/braincomms\/fcae479","type":"journal-article","created":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T13:08:16Z","timestamp":1736168896000},"source":"Crossref","is-referenced-by-count":12,"title":["The <i>FGF14<\/i> GAA repeat expansion is a major cause of ataxia in the Cypriot population"],"prefix":"10.1093","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-5646-2356","authenticated-orcid":false,"given":"Ioannis","family":"Livanos","sequence":"first","affiliation":[{"name":"Neurogenetics Department, The Cyprus Institute of Neurology and Genetics , Nicosia 2371 ,","place":["Cyprus"]},{"name":"The Cyprus Institute of Neurology and Genetics is a member of the European Reference Network-Rare Neurological Diseases (ERN-RND) , Research Management Unit, Institute of Medical Genetics and Applied Genomics, University Hospital T\u00fcbingen, T\u00fcbingen 72076 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5789-0919","authenticated-orcid":false,"given":"Christina","family":"Votsi","sequence":"additional","affiliation":[{"name":"Neurogenetics Department, The Cyprus Institute of Neurology and Genetics , Nicosia 2371 ,","place":["Cyprus"]},{"name":"The Cyprus Institute of Neurology and Genetics is a member of the European Reference Network-Rare Neurological Diseases (ERN-RND) , Research Management Unit, Institute of Medical Genetics and Applied Genomics, University Hospital T\u00fcbingen, T\u00fcbingen 72076 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7065-1237","authenticated-orcid":false,"given":"Kyriaki","family":"Michailidou","sequence":"additional","affiliation":[{"name":"The Cyprus Institute of Neurology and Genetics is a member of the European Reference Network-Rare Neurological Diseases (ERN-RND) , Research Management Unit, Institute of Medical Genetics and Applied Genomics, University Hospital T\u00fcbingen, T\u00fcbingen 72076 ,","place":["Germany"]},{"name":"Biostatistics Unit, The Cyprus Institute of Neurology and Genetics , Nicosia 2371 ,","place":["Cyprus"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Pellerin","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine , Miami, FL 33136 ,","place":["USA"]},{"name":"Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University , Montreal, QC , H3A 2B4","place":["Canada"]},{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1394-3561","authenticated-orcid":false,"given":"Bernard","family":"Brais","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University , Montreal, QC , H3A 2B4","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Zuchner","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine , Miami, FL 33136 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marios","family":"Pantzaris","sequence":"additional","affiliation":[{"name":"The Cyprus Institute of Neurology and Genetics is a member of the European Reference Network-Rare Neurological Diseases (ERN-RND) , Research Management Unit, Institute of Medical Genetics and Applied Genomics, University Hospital T\u00fcbingen, T\u00fcbingen 72076 ,","place":["Germany"]},{"name":"Neuroimmunology Department, The Cyprus Institute of Neurology and Genetics , Nicosia 2371 ,","place":["Cyprus"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4103-8094","authenticated-orcid":false,"given":"Kleopas A","family":"Kleopa","sequence":"additional","affiliation":[{"name":"The Cyprus Institute of Neurology and Genetics is a member of the European Reference Network-Rare Neurological Diseases (ERN-RND) , Research Management Unit, Institute of Medical Genetics and Applied Genomics, University Hospital T\u00fcbingen, T\u00fcbingen 72076 ,","place":["Germany"]},{"name":"Neuroscience Department, The Cyprus Institute of Neurology and Genetics , Nicosia 2371 ,","place":["Cyprus"]},{"name":"Centre for Neuromuscular Disorders, The Cyprus Institute of Neurology and Genetics , Nicosia 2371 ,","place":["Cyprus"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleni","family":"Zamba Papanicolaou","sequence":"additional","affiliation":[{"name":"The Cyprus Institute of Neurology and Genetics is a member of the European Reference Network-Rare Neurological Diseases (ERN-RND) , Research Management Unit, Institute of Medical Genetics and Applied Genomics, University Hospital T\u00fcbingen, T\u00fcbingen 72076 ,","place":["Germany"]},{"name":"Centre for Neuromuscular Disorders, The Cyprus Institute of Neurology and Genetics , Nicosia 2371 ,","place":["Cyprus"]},{"name":"Neuroepidemiology Department, The Cyprus Institute of Neurology and Genetics , Nicosia 2371 ,","place":["Cyprus"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0622-7594","authenticated-orcid":false,"given":"Kyproula","family":"Christodoulou","sequence":"additional","affiliation":[{"name":"Neurogenetics Department, The Cyprus Institute of Neurology and Genetics , Nicosia 2371 ,","place":["Cyprus"]},{"name":"The Cyprus Institute of Neurology and Genetics is a member of the European Reference Network-Rare Neurological Diseases (ERN-RND) , Research Management Unit, Institute of Medical Genetics and Applied Genomics, University Hospital T\u00fcbingen, T\u00fcbingen 72076 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,1,3]]},"reference":[{"issue":"2","key":"2025011113053793500_fcae479-B1","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1056\/NEJMoa2207406","article-title":"Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia","volume":"388","author":"Pellerin","year":"2023","journal-title":"N Engl J Med"},{"issue":"1","key":"2025011113053793500_fcae479-B2","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.ajhg.2022.11.015","article-title":"An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B\/ATX-FGF14","volume":"110","author":"Rafehi","year":"2023","journal-title":"Am J Hum Genet"},{"issue":"12","key":"2025011113053793500_fcae479-B3","doi-asserted-by":"crossref","first-page":"3828","DOI":"10.1111\/ene.16039","article-title":"Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia","volume":"30","author":"Iruzubieta","year":"2023","journal-title":"Eur J Neurol"},{"issue":"10","key":"2025011113053793500_fcae479-B4","doi-asserted-by":"crossref","first-page":"4144","DOI":"10.1093\/brain\/awad157","article-title":"GAA-FGF14 ataxia (SCA27B): Phenotypic profile, natural history progression and 4-aminopyridine treatment response","volume":"146","author":"Wilke","year":"2023","journal-title":"Brain"},{"issue":"1","key":"2025011113053793500_fcae479-B5","doi-asserted-by":"crossref","first-page":"e1504","DOI":"10.1002\/ctm2.1504","article-title":"Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia","volume":"14","author":"Pellerin","year":"2024","journal-title":"Clin Transl Med"},{"issue":"2","key":"2025011113053793500_fcae479-B6","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/S0925-4773(99)00241-5","article-title":"Subcellular and developmental expression of alternatively spliced forms of fibroblast growth factor 14","volume":"90","author":"Wang","year":"2000","journal-title":"Mech Devt"},{"issue":"1","key":"2025011113053793500_fcae479-B7","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1086\/345488","article-title":"A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia","volume":"72","author":"van Swieten","year":"2003","journal-title":"Am J Hum Genet"},{"issue":"1","key":"2025011113053793500_fcae479-B8","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1113\/jphysiol.2005.097220","article-title":"Fibroblast growth factor 14 is an intracellular modulator of voltage-gated sodium channels","volume":"569","author":"Lou","year":"2005","journal-title":"J Physiol"},{"key":"2025011113053793500_fcae479-B9","doi-asserted-by":"crossref","first-page":"103","DOI":"10.3389\/fncel.2017.00103","article-title":"Intracellular fibroblast growth factor 14: Emerging risk factor for brain disorders","volume":"11","author":"Di Re","year":"2017","journal-title":"Front Cell Neurosci"},{"issue":"1","key":"2025011113053793500_fcae479-B10","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.nbd.2008.09.019","article-title":"FGF14 regulates the intrinsic excitability of cerebellar purkinje neurons","volume":"33","author":"Shakkottai","year":"2009","journal-title":"Neurobiol Dis"},{"issue":"1","key":"2025011113053793500_fcae479-B11","doi-asserted-by":"crossref","first-page":"9737","DOI":"10.1038\/s41598-023-36654-8","article-title":"Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia\/spinocerebellar ataxia 27B","volume":"13","author":"Bonnet","year":"2023","journal-title":"Sci Rep"},{"issue":"8","key":"2025011113053793500_fcae479-B12","doi-asserted-by":"crossref","first-page":"1575","DOI":"10.1002\/mds.29552","article-title":"Non-GAA repeat expansions in FGF14 are likely not pathogenic\u2014Reply to: \u201cShaking up ataxia: FGF14 and RFC1 repeat expansions in affected and unaffected members of a Chilean family.\u201d","volume":"38","author":"Pellerin","year":"2023","journal-title":"Mov Disord"},{"issue":"1","key":"2025011113053793500_fcae479-B13","doi-asserted-by":"crossref","first-page":"7665","DOI":"10.1038\/s41467-024-52148-1","article-title":"Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions","volume":"15","author":"Mohren","year":"2024","journal-title":"Nat Commun"},{"issue":"2","key":"2025011113053793500_fcae479-B14","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1136\/jnnp-2023-331490","article-title":"Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy","volume":"95","author":"Pellerin","year":"2023","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"8","key":"2025011113053793500_fcae479-B15","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1002\/mds.29559","article-title":"As frequent as polyglutamine spinocerebellar ataxias: SCA27B in a large German autosomal dominant ataxia cohort","volume":"38","author":"Hengel","year":"2023","journal-title":"Mov Disord"},{"key":"2025011113053793500_fcae479-B16","doi-asserted-by":"crossref","first-page":"104931","DOI":"10.1016\/j.ebiom.2023.104931","article-title":"Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions","volume":"99","author":"M\u00e9reaux","year":"2024","journal-title":"eBioMedicine"},{"issue":"10","key":"2025011113053793500_fcae479-B17","doi-asserted-by":"crossref","first-page":"1950","DOI":"10.1002\/mds.29560","article-title":"Natural history and phenotypic spectrum of GAA-FGF14 sporadic late-onset cerebellar ataxia (SCA27B)","volume":"38","author":"Wirth","year":"2023","journal-title":"Mov Disord"},{"issue":"1","key":"2025011113053793500_fcae479-B18","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1002\/acn3.51936","article-title":"Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan","volume":"11","author":"Ando","year":"2024","journal-title":"Ann Clin Transl Neurol"},{"key":"2025011113053793500_fcae479-B19","doi-asserted-by":"crossref","first-page":"105077","DOI":"10.1016\/j.ebiom.2024.105077","article-title":"The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: A large cohort study","volume":"102","author":"Ouyang","year":"2024","journal-title":"EBioMedicine"},{"issue":"4","key":"2025011113053793500_fcae479-B20","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1111\/cge.14482","article-title":"The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations","volume":"105","author":"Kartanou","year":"2024","journal-title":"Clin Genet"},{"issue":"5","key":"2025011113053793500_fcae479-B21","doi-asserted-by":"crossref","first-page":"e200094","DOI":"10.1212\/NXG.0000000000200094","article-title":"Frequency of GAA-FGF14 ataxia in a large cohort of Brazilian patients with unsolved adult-onset cerebellar ataxia","volume":"9","author":"Novis","year":"2023","journal-title":"Neurol Genet"},{"key":"2025011113053793500_fcae479-B22","doi-asserted-by":"crossref","first-page":"5478","DOI":"10.1007\/s00415-024-12506-x","article-title":"Spinocerebellar ataxia 27B: A frequent and slowly progressive autosomal-dominant cerebellar ataxia\u2014Experience from an Italian cohort","volume":"271","author":"Satolli","year":"2024","journal-title":"J Neurol"},{"issue":"6","key":"2025011113053793500_fcae479-B23","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1002\/mdc3.14020","article-title":"RFC1 and FGF14 repeat expansions in Serbian patients with cerebellar ataxia","volume":"11","author":"Milovanovic","year":"2024","journal-title":"Mov Disord Clin Pract"},{"issue":"6","key":"2025011113053793500_fcae479-B24","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1002\/ana.27060","article-title":"Clinical, radiological and pathological features of a large American cohort of spinocerebellar ataxia (SCA27B)","volume":"96","author":"Abou Chaar","year":"2024","journal-title":"Ann Neurol"},{"issue":"6","key":"2025011113053793500_fcae479-B25","doi-asserted-by":"crossref","first-page":"e0179474","DOI":"10.1371\/journal.pone.0179474","article-title":"Y-chromosomal analysis of Greek Cypriots reveals a primarily common pre-ottoman paternal ancestry with Turkish Cypriots","volume":"12","author":"Heraclides","year":"2017","journal-title":"PLoS One"},{"issue":"1","key":"2025011113053793500_fcae479-B26","first-page":"24","article-title":"High frequency of Friedreich\u2019s ataxia carriers in the Paphos district of Cyprus","volume":"28","author":"Zamba-Papanicolaou","year":"2009","journal-title":"Acta Myol"},{"issue":"3","key":"2025011113053793500_fcae479-B27","doi-asserted-by":"crossref","first-page":"e200149","DOI":"10.1212\/NXG.0000000000200149","article-title":"RFC1 repeat distribution in the Cypriot population: Study of a large cohort of patients with undiagnosed ataxia and non-disease controls","volume":"10","author":"Votsi","year":"2024","journal-title":"Neurol Genet"},{"issue":"8476","key":"2025011113053793500_fcae479-B28","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/S0140-6736(86)90837-8","article-title":"Statistical methods for assessing agreement between two methods of clinical measurement","volume":"327","author":"Bland","year":"1986","journal-title":"Lancet"},{"issue":"11","key":"2025011113053793500_fcae479-B29","first-page":"709","article-title":"A new biometrical procedure for testing the equality of measurements from two different analytical methods. Application of linear regression procedures for method comparison studies in clinical chemistry, part I","volume":"21","author":"Passing","year":"1983","journal-title":"J Clin Chem Clin Biochem"},{"issue":"4","key":"2025011113053793500_fcae479-B30","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1007\/s10048-024-00770-y","article-title":"Spinocerebellar ataxia type 27B (SCA27B) in India: Insights from a large cohort study suggest ancient origin","volume":"25","author":"De","year":"2024","journal-title":"Neurogenetics"},{"key":"2025011113053793500_fcae479-B31","doi-asserted-by":"publisher","DOI":"10.1101\/2024.02.16.24302945","article-title":"Neuroradiological findings in GAA- FGF14 ataxia (SCA27B): more than cerebellar atrophy","author":"Chen","journal-title":"medRxiv"},{"issue":"7","key":"2025011113053793500_fcae479-B32","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1038\/s41588-024-01808-5","article-title":"A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus","volume":"56","author":"Pellerin","year":"2024","journal-title":"Nat Genet"},{"issue":"5254","key":"2025011113053793500_fcae479-B33","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1126\/science.271.5254.1423","article-title":"Friedreich\u2019s ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion","volume":"271","author":"Campuzano","year":"1996","journal-title":"Science"},{"issue":"1)","key":"2025011113053793500_fcae479-B34","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1086\/301680","article-title":"The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure","volume":"62","author":"Bidichandani","year":"1998","journal-title":"Am J Hum Genet"},{"issue":"4","key":"2025011113053793500_fcae479-B35","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1016\/S1097-2765(00)80474-8","article-title":"Sticky DNA: Self-association properties of long GAA\u00b7TTC repeats in R\u00b7R\u00b7Y Triplex structures from Friedreich\u2019s ataxia","volume":"3","author":"Sakamoto","year":"1999","journal-title":"Mol Cell"},{"issue":"19","key":"2025011113053793500_fcae479-B36","doi-asserted-by":"crossref","first-page":"3538","DOI":"10.1016\/j.molcel.2022.08.007","article-title":"S1-END-seq reveals DNA secondary structures in human cells","volume":"82","author":"Matos-Rodrigues","year":"2022","journal-title":"Mol Cell"},{"issue":"29","key":"2025011113053793500_fcae479-B37","doi-asserted-by":"crossref","first-page":"27178","DOI":"10.1074\/jbc.M101852200","article-title":"GGA*TCC-interrupted triplets in long GAA*TTC repeats inhibit the formation of triplex and sticky DNA structures, alleviate transcription inhibition, and reduce genetic instabilities","volume":"276","author":"Sakamoto","year":"2001","journal-title":"J Biol Chem"},{"issue":"8","key":"2025011113053793500_fcae479-B38","doi-asserted-by":"crossref","first-page":"1854","DOI":"10.1212\/WNL.53.8.1854","article-title":"A nonpathogenic GAAGGA repeat in the Friedreich gene: Implications for pathogenesis","volume":"53","author":"Ohshima","year":"1999","journal-title":"Neurology"},{"issue":"5","key":"2025011113053793500_fcae479-B39","doi-asserted-by":"crossref","first-page":"e1004318","DOI":"10.1371\/journal.pgen.1004318","article-title":"R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and Fragile X syndrome","volume":"10","author":"Groh","year":"2014","journal-title":"PLoS Genet"},{"issue":"23","key":"2025011113053793500_fcae479-B40","doi-asserted-by":"crossref","first-page":"3818","DOI":"10.1093\/hmg\/ddaa267","article-title":"Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia","volume":"29","author":"Rodden","year":"2021","journal-title":"Hum Mol Genet"},{"issue":"5-6","key":"2025011113053793500_fcae479-B41","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1007\/s004390050552","article-title":"High-throughput analysis of Fragile X (CGG) n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis","volume":"100","author":"Larsen","year":"1997","journal-title":"Hum Genet"},{"issue":"2","key":"2025011113053793500_fcae479-B42","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/S1525-1578(10)60689-7","article-title":"Diagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis","volume":"4","author":"Dorschner","year":"2002","journal-title":"J Mol Diagn"},{"issue":"11","key":"2025011113053793500_fcae479-B43","doi-asserted-by":"crossref","first-page":"2198","DOI":"10.1002\/elps.200410197","article-title":"Accurate and sensitive analysis of triplet repeat expansions by capillary electrophoresis","volume":"26","author":"Olejniczak","year":"2005","journal-title":"Electrophoresis"},{"key":"2025011113053793500_fcae479-B44","author":"Statistical Service of Cyprus"}],"container-title":["Brain Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/braincomms\/advance-article-pdf\/doi\/10.1093\/braincomms\/fcae479\/61350528\/fcae479.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/braincomms\/article-pdf\/7\/1\/fcae479\/61350528\/fcae479.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/braincomms\/article-pdf\/7\/1\/fcae479\/61350528\/fcae479.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,11]],"date-time":"2025-01-11T13:06:03Z","timestamp":1736600763000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/braincomms\/article\/doi\/10.1093\/braincomms\/fcae479\/7943334"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,24]]},"references-count":44,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,12,24]]}},"URL":"https:\/\/doi.org\/10.1093\/braincomms\/fcae479","relation":{},"ISSN":["2632-1297"],"issn-type":[{"value":"2632-1297","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025]]},"published":{"date-parts":[[2024,12,24]]},"article-number":"fcae479"}}