{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T05:35:49Z","timestamp":1781501749093,"version":"3.54.1"},"reference-count":43,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[1993,7,1]],"date-time":"1993-07-01T00:00:00Z","timestamp":741484800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1993,7]]},"DOI":"10.1038\/ng0793-221","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T20:59:43Z","timestamp":1092862783000},"page":"221-226","source":"Crossref","is-referenced-by-count":1257,"title":["Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1"],"prefix":"10.1038","volume":"4","author":[{"given":"Harry T.","family":"Orr","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming-yi","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandro","family":"Banfi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Thomas J.","family":"Kwiatkowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Servadio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur L.","family":"Beaudet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alanna E.","family":"McCall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa A.","family":"Duvick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura P. W.","family":"Ranum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huda Y.","family":"Zoghbi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng0793221_CR1","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1001\/archneurpsyc.1950.02310220002001","volume":"63","author":"JW Schut","year":"1954","unstructured":"Schut, J.W. Hereditary ataxia: clinical study through six generations. Arch. Neurol. Psychiat. 63, 535\u2013567 (1954).","journal-title":"Arch. Neurol. Psychiat."},{"key":"BFng0793221_CR2","doi-asserted-by":"publisher","first-page":"1040","DOI":"10.1212\/WNL.22.9.1040","volume":"22","author":"RD Currier","year":"1972","unstructured":"Currier, R.D., Glover, G., Jackson, J.F. & Tipton, A.C. Spinocerebellar ataxia: study of a large kindred. Neurology 22, 1040\u20131043 (1972).","journal-title":"Neurology"},{"key":"BFng0793221_CR3","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1212\/WNL.30.1.12","volume":"30","author":"HE Nino","year":"1980","unstructured":"Nino, H.E., Noreen, H.J. & Dubey, D.P. A family with hereditary ataxia: HLA typing. Neurology 30, 12\u201320 (1980).","journal-title":"Neurology"},{"key":"BFng0793221_CR4","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1002\/ana.410230609","volume":"23","author":"HY Zoghbi","year":"1988","unstructured":"Zoghbi, H.Y. et al. Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Ann. Neurol. 23, 580\u2013584 (1988).","journal-title":"Ann. Neurol."},{"key":"BFng0793221_CR5","volume-title":"The spino-cerebellar degenerations","author":"JG Greenfield","year":"1954","unstructured":"Greenfield, J.G. The spino-cerebellar degenerations (Charles C. Thomas, Springfield, Illinois, 1954)."},{"key":"BFng0793221_CR6","doi-asserted-by":"publisher","first-page":"1542","DOI":"10.1212\/WNL.34.12.1542","volume":"34","author":"JL Haines","year":"1984","unstructured":"Haines, J.L., Schut, L.J. & Weitkamp, L.R. Spinocerebellar ataxia in large kindred: age at onset, reproduction, and genetic linkage studies. Neurology 34, 1542\u20131548 (1984).","journal-title":"Neurology"},{"key":"BFng0793221_CR7","doi-asserted-by":"publisher","first-page":"799","DOI":"10.1016\/0092-8674(92)90154-5","volume":"68","author":"JD Brook","year":"1992","unstructured":"Brook, J.D. et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3\u2032 end of a transcript encoding a protein kinase family member. Cell 68, 799\u2013808 (1992).","journal-title":"Cell"},{"key":"BFng0793221_CR8","doi-asserted-by":"publisher","first-page":"476","DOI":"10.1056\/NEJM199302183280705","volume":"328","author":"HG Bruner","year":"1993","unstructured":"Bruner, H.G. et al. Reverse mutation in myotonic dystrophy. New Engl. J. Med. 328, 476\u2013480 (1993).","journal-title":"New Engl. J. Med."},{"key":"BFng0793221_CR9","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1038\/355547a0","volume":"355","author":"J Buxton","year":"1992","unstructured":"Buxton, J. et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355, 547\u2013548 (1992).","journal-title":"Nature"},{"key":"BFng0793221_CR10","doi-asserted-by":"publisher","first-page":"1047","DOI":"10.1016\/0092-8674(91)90283-5","volume":"67","author":"Y-H Fu","year":"1991","unstructured":"Fu, Y.-H. et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67, 1047\u20131058 (1991).","journal-title":"Cell"},{"key":"BFng0793221_CR11","doi-asserted-by":"publisher","first-page":"1256","DOI":"10.1126\/science.1546326","volume":"255","author":"Y-H Fu","year":"1992","unstructured":"Fu, Y.-H. et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255, 1256\u20131259 (1992).","journal-title":"Science"},{"key":"BFng0793221_CR12","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1038\/355545a0","volume":"355","author":"HG Harley","year":"1992","unstructured":"Harley, H.G. et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355, 545\u2013546 (1992).","journal-title":"Nature"},{"key":"BFng0793221_CR13","doi-asserted-by":"publisher","first-page":"1125","DOI":"10.1016\/0140-6736(92)90729-M","volume":"339","author":"HG Harley","year":"1992","unstructured":"Harley, H.G. et al. Unstable DNA sequence in myotonic dystrophy. Lancet 339, 1125\u20131128 (1992).","journal-title":"Lancet"},{"key":"BFng0793221_CR14","doi-asserted-by":"publisher","first-page":"1711","DOI":"10.1126\/science.1675488","volume":"252","author":"EJ Kremer","year":"1991","unstructured":"Kremer, E.J. et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252, 1711\u20131714 (1991).","journal-title":"Science"},{"key":"BFng0793221_CR15","doi-asserted-by":"publisher","first-page":"905","DOI":"10.1016\/0092-8674(91)90397-H","volume":"65","author":"AJMH Verkerk","year":"1991","unstructured":"Verkerk, A.J.M.H. et al. Identification of a gene (FMR\u20131) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905\u2013914 (1991).","journal-title":"Cell"},{"key":"BFng0793221_CR16","doi-asserted-by":"publisher","first-page":"1253","DOI":"10.1126\/science.1546325","volume":"255","author":"M Mahadevan","year":"1992","unstructured":"Mahadevan, M. et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3\u2032 untranslated region of the gene. Science 255, 1253\u20131255 (1992).","journal-title":"Science"},{"issue":"6","key":"BFng0793221_CR17","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1016\/0092-8674(93)90585-E","volume":"72","author":"M MACDONALD","year":"1993","unstructured":"The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's Disease Chromosomes. Cell 72, 971\u2013983 (1993).","journal-title":"Cell"},{"key":"BFng0793221_CR18","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1038\/352077a0","volume":"352","author":"AR La Spada","year":"1991","unstructured":"La Spada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E. & Fishbeck, K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77\u201379 (1991).","journal-title":"Nature"},{"key":"BFng0793221_CR19","first-page":"154","volume":"291","author":"H Yakura","year":"1974","unstructured":"Yakura, H., Wakisaka, A., Fujimoto, S. & Itakura, K. Hereditary ataxia and HLA genotypes. New Engl. J. Med. 291, 154\u2013155 (1974).","journal-title":"New Engl. J. Med."},{"key":"BFng0793221_CR20","doi-asserted-by":"publisher","first-page":"1138","DOI":"10.1056\/NEJM197705192962003","volume":"296","author":"JF Jackson","year":"1977","unstructured":"Jackson, J.F., Currier, R.D., Terasaki, P.I. & Morton, N.E. Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing. New Engl. J. Med. 296, 1138\u20131141 (1977).","journal-title":"New Engl. J. Med."},{"key":"BFng0793221_CR21","first-page":"31","volume":"49","author":"LPW Ranum","year":"1991","unstructured":"Ranum, L.P.W. et al. Localization of the autosomal dominant, HLA-linked spinocerebellar ataxia (SCA1) locus in two kindreds within an 8cM subregion of chromosome 6p. Am. J. hum. Genet. 49, 31\u201341 (1991).","journal-title":"Am. J. hum. Genet."},{"key":"BFng0793221_CR22","unstructured":"Kwiatkowski, T.J. Jr. et al. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinudeotide repeat at the AM10 locus. Am. J. hum. Genet. (in the press)."},{"key":"BFng0793221_CR23","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1038\/ng1292-301","volume":"2","author":"AR La Spada","year":"1992","unstructured":"La Spada, A.R. et al. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nature Genet. 2, 301\u2013304 (1992).","journal-title":"Nature Genet."},{"key":"BFng0793221_CR24","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1212\/WNL.28.7.703","volume":"28","author":"P Coutinho","year":"1978","unstructured":"Coutinho, P. & Andrade, C. Autosomal dominant system degeneration in Portuguese families of the Azores. Neurology 28, 703\u2013709 (1978).","journal-title":"Neurology"},{"key":"BFng0793221_CR25","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1038\/ng0793-300","volume":"4","author":"Y Takiyama","year":"1993","unstructured":"Takiyama, Y. et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet. 4, 300\u2013304 (1993).","journal-title":"Nature Genet."},{"key":"BFng0793221_CR26","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1136\/jmg.18.6.436","volume":"18","author":"AE Harding","year":"1981","unstructured":"Harding, A.E. Genetic aspects of autosomal dominant late onset cerebellar ataxia. J. med. Genet. 18, 436\u2013441 (1981).","journal-title":"J. med. Genet."},{"key":"BFng0793221_CR27","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/0022-510X(89)90159-7","volume":"93","author":"G Orozco","year":"1989","unstructured":"Orozco, G. et al. Dominantly inherited olivopontocerebellar atrophy from eastern Cuba: clinical, neuropathological, and biochemical findings. J. neurol. Sci. 93, 27\u201350 (1989).","journal-title":"J. neurol. Sci."},{"key":"BFng0793221_CR28","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1038\/ng0793-295","volume":"4","author":"S Gispert","year":"1993","unstructured":"Gispert, S. et al. Chromosomal assignment of the second (Cuban) locus for autosomal dominant cerebellar atrophy (SCA2) to human chromosome 12q23\u201324.1. Nature Genet. 4, 295\u2013299 (1993).","journal-title":"Nature Genet."},{"key":"BFng0793221_CR29","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1038\/ng0792-257","volume":"1","author":"RI Richards","year":"1992","unstructured":"Richards, R.I. et al. Evidence of founder chromosomes in fragile X syndrome. Nature Genet. 1, 257\u2013260 (1992).","journal-title":"Nature Genet."},{"key":"BFng0793221_CR30","first-page":"68","volume":"49","author":"HG Harley","year":"1991","unstructured":"Harley, H.G. et al. Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker. Am. J. hum. Genet 49, 68\u201375 (1991).","journal-title":"Am. J. hum. Genet"},{"key":"BFng0793221_CR31","doi-asserted-by":"publisher","first-page":"927","DOI":"10.1210\/jcem.74.4.1347772","volume":"74","author":"CA Quigley","year":"1992","unstructured":"Quigley, C.A. et al. Complete deletion of the androgen receptor gene: definion of the null phenotype of the androgen insensitivity syndrome and determination of carrier status. J. clin. endocrinol. Metab. 74, 927\u2013933 (1992).","journal-title":"J. clin. endocrinol. Metab."},{"key":"BFng0793221_CR32","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1016\/0303-7207(91)90243-L","volume":"75","author":"M Trifiro","year":"1991","unstructured":"Trifiro, M. et al. The 56\/58 kDa androgen-binding protein in male genital skin fibroblasts with a deleted androgen receptor gene. Molec. cell. endocrinol. 75, 37\u201347 (1991).","journal-title":"Molec. cell. endocrinol."},{"key":"BFng0793221_CR33","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1016\/0092-8674(85)90229-6","volume":"43","author":"KA Wharton","year":"1985","unstructured":"Wharton, K.A., Johansen, K.M., Xu, T. & Artavanis-Tsakonas, S. Nucleotide sequence from the neurogenic locus notch implies a gene product that shares homology with proteins containing EGF-like repeats. Cell 43, 567\u2013581 (1985).","journal-title":"Cell"},{"key":"BFng0793221_CR34","doi-asserted-by":"publisher","first-page":"941","DOI":"10.1016\/0092-8674(91)90367-8","volume":"67","author":"H Vaessin","year":"1991","unstructured":"Vaessin, H. et al. prospero is expressed in neuronal precursors and encodes a nuclear protein that is involved in the control of axonal outgrowth in Drosophila. Cell 67, 941\u2013953 (1991).","journal-title":"Cell"},{"key":"BFng0793221_CR35","doi-asserted-by":"publisher","first-page":"2125","DOI":"10.1101\/gad.6.11.2125","volume":"6","author":"HJ Bellen","year":"1992","unstructured":"Bellen, H.J., Kooyer, S., D'Evelyn, D. & Pearlman, J. The Drosophila Couch potato protein is expressed in nuclei of peripheral neuronal precursors and shows homology to RNA-binding proteins. Genes Dev. 6, 2125\u20132136 (1992).","journal-title":"Genes Dev."},{"key":"BFng0793221_CR36","doi-asserted-by":"publisher","first-page":"827","DOI":"10.1016\/0092-8674(89)90606-5","volume":"59","author":"AJ Courey","year":"1989","unstructured":"Courey, A.J., Holtzman, D.A., Jackson, S.P. & Tjian, R. Synergistic activation by the glutamine-rich domains of human transcription factor Sp1. Cell 59, 827\u2013836 (1989).","journal-title":"Cell"},{"key":"BFng0793221_CR37","doi-asserted-by":"publisher","first-page":"3907","DOI":"10.1002\/j.1460-2075.1988.tb03277.x","volume":"7","author":"M Benson","year":"1988","unstructured":"Benson, M. & Pirrotta, V. The Drosophila zeste protein binds cooperatively to sites in many gene regulatory regions: implications for transvection and gene regulation. EMBO J. 7, 3907\u20133915 (1988).","journal-title":"EMBO J."},{"key":"BFng0793221_CR38","first-page":"524","volume":"41","author":"SS Rich","year":"1987","unstructured":"Rich, S.S., Wilkie, P., Schut, L., Vance, G. & Orr, H.T. Spinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6. Am. J. hum. Genet. 41, 524\u2013531 (1987).","journal-title":"Am. J. hum. Genet."},{"key":"BFng0793221_CR39","first-page":"877","volume":"42","author":"HY Zoghbi","year":"1988","unstructured":"Zoghbi, H.Y., Daiger, S.P., McCall, A., O'Brien, W.E. & Beaudet, A.L. Extensive DNA polymorphism at the factor Xllla (F13a) locus and linkage to HLA. Am. J. hum. Genet. 42, 877\u2013883 (1988).","journal-title":"Am. J. hum. Genet."},{"key":"BFng0793221_CR40","volume-title":"Molecular Cloning: A Laboratory Manual","author":"J Sambrook","year":"1989","unstructured":"Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular Cloning: A Laboratory Manual 2nd edn (Cold Spring Harbor Laboratory Press, New York, 1989)."},{"key":"BFng0793221_CR41","doi-asserted-by":"publisher","first-page":"794","DOI":"10.1038\/359794a0","volume":"359","author":"J Weissenbach","year":"1992","unstructured":"Weissenbach, J. et al. A second-generation linkage map of the human genome. Nature 359, 794\u2013801 (1992).","journal-title":"Nature"},{"key":"BFng0793221_CR42","doi-asserted-by":"publisher","first-page":"4256","DOI":"10.1073\/pnas.87.11.4256","volume":"87","author":"HM Albertsen","year":"1990","unstructured":"Albertsen, H.M. et al. Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. Proc. natn. Acad. Sci. U.S.A. 87, 4256\u20134260 (1990).","journal-title":"Proc. natn. Acad. Sci. U.S.A."},{"key":"BFng0793221_CR43","doi-asserted-by":"publisher","first-page":"1348","DOI":"10.1126\/science.2544027","volume":"244","author":"BH Brownstein","year":"1989","unstructured":"Brownstein, B.H. et al. Isolation of single-copy human genes from a library of yeast artificial chromosome clones. Science 244, 1348\u20131351 (1989).","journal-title":"Science"}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0793-221","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0793-221.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0793-221.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:46:33Z","timestamp":1684442793000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0793-221"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,7]]},"references-count":43,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1993,7]]}},"alternative-id":["BFng0793221"],"URL":"https:\/\/doi.org\/10.1038\/ng0793-221","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,7]]}}}