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However, the serum levels of creatine kinase, \u03b3\u2010globulin, and \u03b1\u2010fetoprotein were elevated, and biochemical and genetic analyses ruled out diagnosis of these three ataxias as well as other FSCAs. Thus, this family is thought to have a new type of FSCA.<\/jats:p>","DOI":"10.1002\/ana.410440220","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T15:21:18Z","timestamp":1104592878000},"page":"265-269","source":"Crossref","is-referenced-by-count":47,"title":["Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, \u03b3\u2010globulin, and \u03b1\u2010fetoprotein"],"prefix":"10.1002","volume":"44","author":[{"given":"Mitsunori","family":"Watanabe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiro","family":"Sugai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Concannon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Koenig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mich\u00e8Le","family":"Schmitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madoka","family":"Sato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masami","family":"Shizuka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuyuki","family":"Mizushima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshio","family":"Ikeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Tomidokoro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koichi","family":"Okamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikio","family":"Shoji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.271.5254.1423"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199610173351601"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1096-157"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-141"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.7792600"},{"key":"e_1_2_1_7_2","first-page":"839","article-title":"A high frequency of distinct ATM gene mutations in ataxia\u2010telangiectsia","volume":"59","author":"Wright J","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00208975"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0793-221"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-285"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-269"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-277"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-221"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-62"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-65"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0194-9"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0194-14"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1981.tb05740.x"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.12.953"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/s100480050007"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410440220","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410440220","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T13:56:13Z","timestamp":1698501373000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410440220"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,8]]},"references-count":19,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1998,8]]}},"alternative-id":["10.1002\/ana.410440220"],"URL":"https:\/\/doi.org\/10.1002\/ana.410440220","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,8]]}}}