{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T17:54:50Z","timestamp":1760982890790},"reference-count":9,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurology, Neurosurgery &amp; Psychiatry"],"published-print":{"date-parts":[[1996,7,1]]},"DOI":"10.1136\/jnnp.61.1.113","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T22:20:59Z","timestamp":1226355659000},"page":"113-114","source":"Crossref","is-referenced-by-count":4,"title":["A sporadic case of dentatorubral pallidoluysian atrophy (DRPLA) with CAG repeat expansion but no clinical abnormalities in the father."],"prefix":"10.1136","volume":"61","author":[{"given":"N","family":"Shimizu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Yamami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Nakayama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Ikeuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Koide","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Tsuji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1212\/WNL.32.8.798","article-title":"Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy","volume":"32","author":"Naito, H.; Oyanagi, S.","year":"1982","unstructured":"Naito H, Oyanagi S. Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy. Neurology 1982;32:798-807.","journal-title":"Neurology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1212\/WNL.38.7.1065","article-title":"Hereditary dentatorubral-pallidoluysian atrophy: Clinical and pathologic variants in a family","volume":"38","author":"Takahashi, H.; Ohama, E.; Naito, H.","year":"1988","unstructured":"Takahashi H, Ohama E, Naito H, et al. Hereditary dentatorubral-pallidoluysian atrophy: Clinical and pathologic variants in a family. Neurology 1988;38:1065-70.","journal-title":"Neurology"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1038\/ng0194-9","article-title":"Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)","volume":"6","author":"true","year":"1994","unstructured":"Koide R, Ikeuchi T, Onodera 0, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genetics 1994;6:9-13.","journal-title":"Nature Genetics"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1038\/ng0194-14","article-title":"Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p","volume":"6","author":"Nagafuchi, S.; Yanagisawa, H.; Sato, K.","year":"1994","unstructured":"Nagafuchi S, Yanagisawa H, Sato K, et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genetics 1994;6: 14-8.","journal-title":"Nature Genetics"},{"key":"ref_5","first-page":"769","article-title":"Dentatorubral-pallidoluysian atrophy (DRPLA): clinical features are closely related to unstable expansions of trinucleotide","volume":"37","author":"true","year":"1995","unstructured":"Ikeuchi T, Koide R, Onodera 0, et al. Dentatorubral-pallidoluysian atrophy (DRPLA): clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Annii Neuirol 1995;37:769-75.","journal-title":"(CAG) repeat. Annii Neuirol"},{"key":"ref_6","first-page":"143","article-title":"DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation","volume":"45","year":"1995","unstructured":"Komure 0, Sano A, Nishino N, ct al. DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Nelrology 1995;45: 143-9.","journal-title":"Nelrology"},{"key":"ref_7","first-page":"222","article-title":"Heredity of dentatorubro-pallidoluysian atrophy. Atnnual Reports of the Research Comnmittee for Neut-ological Degenierative Diseases","author":"Kondo, K.; Naito, H.; Oyanagi, S.","year":"1981","unstructured":"Kondo K, Naito H, Oyanagi S. Heredity of dentatorubro-pallidoluysian atrophy. Atnnual Reports of the Research Comnmittee for Neut-ological Degenierative Diseases 1981:222-6."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1711","DOI":"10.1016\/S0140-6736(94)90497-9","article-title":"Dentatorubral-pallidoluysian atrophy and Haw River syndrome","volume":"344","author":"Burke, JR, Ikeuchi; T, Koide; R.","year":"1994","unstructured":"Burke JR, Ikeuchi T, Koide R, et al. Dentatorubral-pallidoluysian atrophy and Haw River syndrome. Lanicet 1994;344:1711-2.","journal-title":"Lanicet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1038\/ng1093-174","article-title":"Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects","volume":"5","author":"Goldberg, Y.P.; Kremer, B.; Andrew, S.E.","year":"1993","unstructured":"Goldberg YP, Kremer B, Andrew SE, et al. Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nature Genetics 1993;5: 174-9.","journal-title":"Nature Genetics"}],"container-title":["Journal of Neurology, Neurosurgery &amp; Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp.61.1.113","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,26]],"date-time":"2020-09-26T02:53:30Z","timestamp":1601088810000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp.61.1.113"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,7,1]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1996,7,1]]}},"URL":"https:\/\/doi.org\/10.1136\/jnnp.61.1.113","relation":{},"ISSN":["0022-3050"],"issn-type":[{"value":"0022-3050","type":"print"}],"subject":[],"published":{"date-parts":[[1996,7,1]]}}}