{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T12:39:51Z","timestamp":1784551191106,"version":"3.55.0"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2020,7,21]],"date-time":"2020-07-21T00:00:00Z","timestamp":1595289600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,7,21]],"date-time":"2020-07-21T00:00:00Z","timestamp":1595289600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2020,12]]},"DOI":"10.1038\/s10038-020-0807-x","type":"journal-article","created":{"date-parts":[[2020,7,21]],"date-time":"2020-07-21T17:02:44Z","timestamp":1595350964000},"page":"1143-1147","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":44,"title":["RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia"],"prefix":"10.1038","volume":"65","author":[{"given":"Mai","family":"Tsuchiya","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haitian","family":"Nan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kishin","family":"Koh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuta","family":"Ichinose","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihua","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keisuke","family":"Shimozono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takanori","family":"Hata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1482-7319","authenticated-orcid":false,"given":"Yeon-Jeong","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshihisa","family":"Ohtsuka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Cortese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihisa","family":"Takiyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,7,21]]},"reference":[{"key":"807_CR1","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1038\/s41588-019-0372-4","volume":"51","author":"A Cortese","year":"2019","unstructured":"Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yan YW, et al. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019;51:649\u201358.","journal-title":"Nat Genet"},{"key":"807_CR2","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1016\/j.ajhg.2019.05.016","volume":"105","author":"H Rafehi","year":"2019","unstructured":"Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, et al. Bioinformatics-based identification of expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS. Am J Hum Genet. 2019;105:151\u201365.","journal-title":"Am J Hum Genet"},{"key":"807_CR3","doi-asserted-by":"publisher","first-page":"1219","DOI":"10.3389\/fgene.2019.01219","volume":"10","author":"F Akcimen","year":"2019","unstructured":"Akcimen F, Ross JP, Bourassa CV, Liao C, Rochefort D, Theraza M, et al. Investigation of the RFC1 repeat expansion in a Canadian and a Brazilian Ataxia Cohort: identification of novel conformations. Front Genet. 2019;10:1219.","journal-title":"Front Genet"},{"key":"807_CR4","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1038\/s10038-020-0733-y","volume":"65","author":"H Nakamura","year":"2020","unstructured":"Nakamura H, Doi H, Mitsuhashi S, Miyatake S, Katoh K, Frith MC, et al. Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS. J Hum Genet. 2020;65:475\u201380.","journal-title":"J Hum Genet"},{"key":"807_CR5","doi-asserted-by":"publisher","first-page":"866","DOI":"10.1016\/j.anl.2017.10.008","volume":"45","author":"M Taki","year":"2018","unstructured":"Taki M, Nakamura H, Matsuura T, Hasegawa T, Sakaguchi H, Morita K, et al. Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). Auris Nasus Larynx. 2018;45:866\u201370.","journal-title":"Auris Nasus Larynx"},{"key":"807_CR6","doi-asserted-by":"publisher","first-page":"27","DOI":"10.5692\/clinicalneurol.cn-001209","volume":"59","author":"K Maruta","year":"2019","unstructured":"Maruta K, Aoki M, Sonoda Y. Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS): a case report. Rinsho Shinkeigaku. 2019;59:27\u201332.","journal-title":"Rinsho Shinkeigaku"},{"key":"807_CR7","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.parkreldis.2020.02.017","volume":"73","author":"Y Fan","year":"2020","unstructured":"Fan Y, Zhang S, Yang J, Mao CY, Yang ZH, Hu ZW, et al. No biallelic intronic AAGGG repeat expansion in RFC1 was found in patients with late-onset ataxia and MSA. Parkinsonism Relat Disord. 2020;73:1\u20132.","journal-title":"Parkinsonism Relat Disord"},{"key":"807_CR8","doi-asserted-by":"publisher","first-page":"2322","DOI":"10.1212\/WNL.54.12.2322","volume":"54","author":"M Labuda","year":"2000","unstructured":"Labuda M, Labuda D, Miranda C, Poirier J, Soong BW, Barucha NE, et al. Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion. Neurology. 2000;54:2322\u20134.","journal-title":"Neurology."},{"key":"807_CR9","doi-asserted-by":"publisher","first-page":"480","DOI":"10.1093\/brain\/awz418","volume":"143","author":"A Cortese","year":"2020","unstructured":"Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmukfane Z, et al. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Brain. 2020;143:480\u201390.","journal-title":"Brain."},{"key":"807_CR10","doi-asserted-by":"publisher","first-page":"1410","DOI":"10.1212\/WNL.0000000000000352","volume":"82","author":"DJ Szmulewicz","year":"2014","unstructured":"Szmulewicz DJ, McLean CA, Rodriguez ML, Chancellor AM, Mossman S, Lamont D, et al. Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS. Neurology. 2014;82:1410\u20135.","journal-title":"Neurology."}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/s10038-020-0807-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s10038-020-0807-x","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s10038-020-0807-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T21:09:17Z","timestamp":1684616957000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s10038-020-0807-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,21]]},"references-count":10,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["807"],"URL":"https:\/\/doi.org\/10.1038\/s10038-020-0807-x","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,21]]},"assertion":[{"value":"24 April 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 June 2020","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 July 2020","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 July 2020","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}