{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T10:26:27Z","timestamp":1761647187200,"version":"3.40.4"},"reference-count":8,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2001,1,1]],"date-time":"2001-01-01T00:00:00Z","timestamp":978307200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2001,1,1]],"date-time":"2001-01-01T00:00:00Z","timestamp":978307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur Neurol"],"published-print":{"date-parts":[[2001]]},"abstract":"We examined whether autosomal dominant parkinsonism of a Japanese family, Sagamihara family, was due to the mutations of <i><i>\u03b1<\/i>-synuclein, parkin, tau<\/i>, and <i>UCH-L1<\/i>, which have been reported as the causal genes for parkinsonism in other families. Restriction-enzyme digestion of polymerase-chain reaction (PCR) amplified genomic DNA fragments of <i><i>\u03b1<\/i>-synuclein<\/i> exons 3 and 4 detected no point mutation. PCR-amplification of <i>parkin<\/i> exons 3, 4, 5, 6 and 7 detected no exon deletion. Direct sequencing of PCR-amplified DNA fragments of <i>tau<\/i> exons 9, 10, 12, and 13 and intron 10, and of <i>UCH-L1<\/i> exon 4 revealed that all these exons and intron were normal including a polymorphic nucleotide substitution. These results indicated that the parkinsonism of the Sagamihara family seems not to be due to previously identified point mutations of <i><i>\u03b1<\/i>-synuclein, tau,<\/i> or <i>UCH-L1<\/i>, or to exon deletion of <i>parkin<\/i>.<\/jats:p>","DOI":"10.1159\/000050751","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T12:11:24Z","timestamp":1050408684000},"page":"20-24","source":"Crossref","is-referenced-by-count":8,"title":["Analysis of <i>\u03b1-synuclein, parkin, tau,<\/i> and <i>UCH-L1<\/i> in a Japanese Family with Autosomal Dominant Parkinsonism"],"prefix":"10.1159","volume":"46","author":[{"given":"K.","family":"Hasegawa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Funayama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Matsuura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Furusawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Sakai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Kowa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Obata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2001,7,12]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1126\/science.276.5321.2045"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-106"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/33416"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/31508"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.13.7737"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/26652"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/ng0398-262"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.55.12.1521"}],"container-title":["European Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/50751","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/50751","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:57:37Z","timestamp":1745467057000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000050751"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001]]},"references-count":8,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2001,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000050751","archive":["Portico"],"relation":{},"ISSN":["0014-3022","1421-9913"],"issn-type":[{"type":"print","value":"0014-3022"},{"type":"electronic","value":"1421-9913"}],"subject":[],"published":{"date-parts":[[2001]]}}}