{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T15:11:10Z","timestamp":1764688270303},"reference-count":40,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2000,3,1]],"date-time":"2000-03-01T00:00:00Z","timestamp":951868800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":4888,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2000,3]]},"DOI":"10.1086\/302827","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T14:47:54Z","timestamp":1027694874000},"page":"830-840","source":"Crossref","is-referenced-by-count":66,"title":["High Germinal Instability of the (CTG)n at the SCA8 Locus of Both Expanded and Normal Alleles"],"prefix":"10.1016","volume":"66","author":[{"given":"I.","family":"Silveira","sequence":"first","affiliation":[]},{"given":"I.","family":"Alonso","sequence":"additional","affiliation":[]},{"given":"L.","family":"Guimar\u00e3es","sequence":"additional","affiliation":[]},{"given":"P.","family":"Mendon\u00e7a","sequence":"additional","affiliation":[]},{"given":"C.","family":"Santos","sequence":"additional","affiliation":[]},{"given":"P.","family":"Maciel","sequence":"additional","affiliation":[]},{"given":"J.M.","family":"Fidalgo de Matos","sequence":"additional","affiliation":[]},{"given":"M.","family":"Costa","sequence":"additional","affiliation":[]},{"given":"C.","family":"Barbot","sequence":"additional","affiliation":[]},{"given":"A.","family":"Tuna","sequence":"additional","affiliation":[]},{"given":"J.","family":"Barros","sequence":"additional","affiliation":[]},{"given":"L.","family":"Jardim","sequence":"additional","affiliation":[]},{"given":"P.","family":"Coutinho","sequence":"additional","affiliation":[]},{"given":"J.","family":"Sequeiros","sequence":"additional","affiliation":[]}],"member":"78","reference":[{"key":"10.1086\/302827_bib1","first-page":"414","article-title":"Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy","volume":"54","author":"Ashizawa","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302827_bib2","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1038\/ng0595-84","article-title":"The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1","volume":"10","author":"Benomar","year":"1995","journal-title":"Nat Genet"},{"key":"10.1086\/302827_bib3","first-page":"809","article-title":"Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3\/Machado-Joseph disease locus","volume":"57","author":"Cancel","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302827_bib4","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1038\/ng0795-344","article-title":"Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1","volume":"10","author":"Chong","year":"1995","journal-title":"Nat Genet"},{"key":"10.1086\/302827_bib5","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1038\/ng1193-254","article-title":"Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1","volume":"5","author":"Chung","year":"1993","journal-title":"Nat Genet"},{"key":"10.1086\/302827_bib6","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1038\/ng0997-65","article-title":"Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion","volume":"17","author":"David","year":"1997","journal-title":"Nat Genet"},{"key":"10.1086\/302827_bib7","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1086\/302453","article-title":"Patterns of instability of expanded CAG repeats at the ERDA1 locus in general populations","volume":"65","author":"Deka","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302827_bib8","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1136\/jmg.34.10.871","article-title":"Instability of normal (CTG)n alleles in the DM kinase gene","volume":"34","author":"Dow","year":"1997","journal-title":"J Med Genet"},{"key":"10.1086\/302827_bib9","first-page":"A247","article-title":"Screening of the SCA8 expansion","volume":"65","author":"Durr","year":"1999","journal-title":"Am J Hum Genet Suppl"},{"key":"10.1086\/302827_bib10","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1038\/ng0893-387","article-title":"Trinucleotide repeat length instability and age of onset in Huntington's disease","volume":"4","author":"Duyao","year":"1993","journal-title":"Nat Genet"},{"issue":"Suppl 2","key":"10.1086\/302827_bib11","first-page":"A361","article-title":"Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred","volume":"44","author":"Gardner","year":"1994","journal-title":"Neurology"},{"key":"10.1086\/302827_bib12","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1038\/ng0793-295","article-title":"Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1","volume":"4","author":"Gispert","year":"1993","journal-title":"Nat Genet"},{"key":"10.1086\/302827_bib13","doi-asserted-by":"crossref","first-page":"1594","DOI":"10.1086\/302406","article-title":"Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation","volume":"64","author":"Giunti","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302827_bib14","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/ng0593-72","article-title":"Origin of the expansion mutation in Myotonic Dystrophy","volume":"4","author":"Imbert","year":"1993","journal-title":"Nat Genet"},{"key":"10.1086\/302827_bib15","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/ng1196-285","article-title":"Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG\/glutamine repeats","volume":"14","author":"Imbert","year":"1996","journal-title":"Nat Genet"},{"key":"10.1086\/302827_bib16","first-page":"575","article-title":"Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm","volume":"54","author":"Jansen","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302827_bib17","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/ng1194-221","article-title":"CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1","volume":"8","author":"Kawaguchi","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/302827_bib18","first-page":"A278","article-title":"Trinucleotide repeat for SCA8 on 13q21: super expansion in psychosis individuals unaffected by ataxia","volume":"65","author":"Kennedy","year":"1999","journal-title":"Am J Hum Genet Suppl"},{"key":"10.1086\/302827_bib20","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":"Koide","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/302827_bib19","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1038\/7710","article-title":"An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)","volume":"21","author":"Koob","year":"1999","journal-title":"Nat Genet"},{"key":"10.1086\/302827_bib21","first-page":"54","article-title":"Correlation between CAG repeat length and clinical features in Machado-Joseph disease","volume":"57","author":"Maciel","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302827_bib22","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1093\/hmg\/7.2.307","article-title":"Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients","volume":"7","author":"Martorell","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302827_bib23","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1136\/jmg.35.9.791","article-title":"Instability in the normal CTG repeat range at the myotonic dystrophy locus","volume":"35","author":"Meiner","year":"1998","journal-title":"J Med Genet"},{"key":"10.1086\/302827_bib24","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","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/302827_bib25","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/ng0793-221","article-title":"Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1","volume":"4","author":"Orr","year":"1993","journal-title":"Nat Genet"},{"key":"10.1086\/302827_bib26","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1038\/ng1196-269","article-title":"Moderate expansion of normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2","volume":"14","author":"Pulst","year":"1996","journal-title":"Nat Genet"},{"key":"10.1086\/302827_bib28","first-page":"A466","article-title":"Massive CTG expansions and deletions may reduce penetrance of spinocerebelllar ataxia type 8","volume":"65","author":"Ranum","year":"1999","journal-title":"Am J Hum Genet Suppl"},{"key":"10.1086\/302827_bib27","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1038\/ng1194-280","article-title":"Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11","volume":"8","author":"Ranum","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/302827_bib29","series-title":"Molecular cloning: a laboratory manual","author":"Sambrook","year":"1989"},{"key":"10.1086\/302827_bib30","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/ng1196-277","article-title":"Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT","volume":"14","author":"Sanpei","year":"1996","journal-title":"Nat Genet"},{"key":"10.1086\/302827_bib32","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1002\/(SICI)1096-8628(19980328)81:2<134::AID-AJMG3>3.0.CO;2-W","article-title":"Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families","volume":"81","author":"Silveira","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1086\/302827_bib31","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1212\/WNL.46.1.214","article-title":"Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients","volume":"46","author":"Silveira","year":"1996","journal-title":"Neurology"},{"key":"10.1086\/302827_bib33","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1038\/ng0793-300","article-title":"The gene for Machado-Joseph disease maps to human chromosome 14q","volume":"4","author":"Takiyama","year":"1993","journal-title":"Nat Genet"},{"key":"10.1086\/302827_bib34","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1038\/ng0692-192","article-title":"Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy","volume":"1","author":"Tsilfidis","year":"1992","journal-title":"Nat Genet"},{"key":"10.1086\/302827_bib35","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1086\/301613","article-title":"Progressive ataxia due to a missense mutation in a calcium-channel gene","volume":"61","author":"Yue","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302827_bib36","first-page":"123","article-title":"Normal Variation at the myotonic dystrophy locus in global human populations","volume":"56","author":"Zerylnick","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302827_bib37","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1038\/ng0894-531","article-title":"Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene","volume":"7","author":"Zhang","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/302827_bib38","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1038\/ng0197-62","article-title":"Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the a1A-voltage-dependent calcium channel","volume":"15","author":"Zhuchenko","year":"1997","journal-title":"Nat Genet"},{"key":"10.1086\/302827_bib39","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1002\/ana.410230609","article-title":"Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred","volume":"23","author":"Zoghbi","year":"1988","journal-title":"Ann Neurol"},{"key":"10.1086\/302827_bib40","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1086\/302247","article-title":"Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22","volume":"64","author":"Zu","year":"1999","journal-title":"Am J Hum Genet"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707640117?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707640117?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T13:28:18Z","timestamp":1554989298000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707640117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,3]]},"references-count":40,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2000,3]]}},"alternative-id":["S0002929707640117"],"URL":"https:\/\/doi.org\/10.1086\/302827","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2000,3]]}}}