{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T10:33:21Z","timestamp":1756463601909,"version":"3.41.2"},"reference-count":14,"publisher":"Ubiquity Press, Ltd.","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,8,4]]},"DOI":"10.5334\/tohm.639","type":"journal-article","created":{"date-parts":[[2021,8,4]],"date-time":"2021-08-04T12:49:14Z","timestamp":1628081354000},"source":"Crossref","is-referenced-by-count":2,"title":["Atypical Phenotype in a Spinocerebellar Ataxia Type 2 Kindred"],"prefix":"10.5334","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7025-4837","authenticated-orcid":false,"given":"Shweta","family":"Prasad","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3634-2219","authenticated-orcid":false,"given":"Vikram V.","family":"Holla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4085-2377","authenticated-orcid":false,"given":"Pramod Kumar","family":"Pal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3285","reference":[{"issue":"2","key":"key20210804084906_B1","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1007\/s00415-018-9076-4","article-title":"Spinocerebellar ataxia: an update","volume":"266","year":"2019","journal-title":"J Neurol"},{"issue":"9","key":"key20210804084906_B2","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1002\/acn3.437","article-title":"The Multiple Faces of Spinocerebellar Ataxia type 2","volume":"4","year":"2017","journal-title":"Ann Clin Transl Neurol"},{"volume-title":"GeneReviews((R))","year":"1993","key":"key20210804084906_B3"},{"key":"key20210804084906_B4","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.jns.2018.08.024","article-title":"Non-ataxic manifestations of Spinocerebellar ataxia-2, their determinants and predictors","volume":"394","year":"2018","journal-title":"J Neurol Sci"},{"issue":"1","key":"key20210804084906_B5","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1002\/mds.20636","article-title":"Brisk deep-tendon reflexes as a distinctive phenotype in an Argentinean spinocerebellar ataxia type 2 pedigree","volume":"21","year":"2006","journal-title":"Mov Disord"},{"issue":"2","key":"key20210804084906_B6","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1002\/mds.870090218","article-title":"Facial action myoclonus in patients with olivopontocerebellar atrophy","volume":"9","year":"1994","journal-title":"Mov Disord"},{"issue":"1","key":"key20210804084906_B7","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1001\/archneur.56.1.43","article-title":"Spinocerebellar ataxia type 2: clinical features of a pedigree displaying prominent frontal-executive dysfunction","volume":"56","year":"1999","journal-title":"Arch Neurol"},{"issue":"4","key":"key20210804084906_B8","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1111\/ene.12350","article-title":"Autosomal dominant cerebellar ataxias: a systematic review of clinical features","volume":"21","year":"2014","journal-title":"Eur J Neurol"},{"issue":"3","key":"key20210804084906_B9","article-title":"A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases","volume":"43","year":"2020","journal-title":"Genet Mol Biol"},{"key":"key20210804084906_B10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s40673-018-0095-9","article-title":"Slow saccades in cerebellar disease","volume":"6","year":"2019","journal-title":"Cerebellum Ataxias"},{"issue":"Pt 12","key":"key20210804084906_B11","first-page":"2341","article-title":"A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis","volume":"121","year":"1998","journal-title":"Brain"},{"issue":"21","key":"key20210804084906_B12","doi-asserted-by":"crossref","first-page":"1970","DOI":"10.1212\/01.wnl.0000269323.21969.db","article-title":"Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?","volume":"69","year":"2007","journal-title":"Neurology"},{"issue":"10","key":"key20210804084906_B13","doi-asserted-by":"crossref","first-page":"1510","DOI":"10.1001\/archneur.64.10.1510","article-title":"Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism","volume":"64","year":"2007","journal-title":"Arch Neurol"},{"issue":"2","key":"key20210804084906_B14","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.ajhg.2017.06.004","article-title":"From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health","volume":"101","year":"2017","journal-title":"Am J Hum Genet"}],"container-title":["Tremor and Other Hyperkinetic Movements"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/doi.org\/10.5334\/tohm.639","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T22:23:42Z","timestamp":1699309422000},"score":1,"resource":{"primary":{"URL":"https:\/\/tremorjournal.org\/articles\/10.5334\/tohm.639\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,8,4]]}},"alternative-id":["10.5334\/tohm.639"],"URL":"https:\/\/doi.org\/10.5334\/tohm.639","relation":{},"ISSN":["2160-8288"],"issn-type":[{"type":"electronic","value":"2160-8288"}],"subject":[],"published":{"date-parts":[[2021]]},"article-number":"32"}}