{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T00:33:45Z","timestamp":1791419625641,"version":"4.3.3"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[1997,2,1]],"date-time":"1997-02-01T00:00:00Z","timestamp":854755200000},"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":[[1997,2]]},"DOI":"10.1038\/ng0297-197","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T20:20:08Z","timestamp":1092860408000},"page":"197-200","source":"Crossref","is-referenced-by-count":261,"title":["Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation"],"prefix":"10.1038","volume":"15","author":[{"given":"Laura","family":"Mangiarini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirupa","family":"Sathasivam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amarbirpal","family":"Mahal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Mott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Seller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gillian P.","family":"Bates","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng0297197_CR1","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. & Fischbeck, K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77\u201379 (1991).","journal-title":"Nature"},{"issue":"6","key":"BFng0297197_CR2","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1016\/0092-8674(93)90585-E","volume":"72","author":"M MACDONALD","year":"1993","unstructured":"HDCRG. A novel gene containing a trinucleotide repeat that is unstable on Huntington's disease chromosomes. Cell 72, 971\u2013983 (1993).","journal-title":"Cell"},{"key":"BFng0297197_CR3","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1038\/ng0793-221","volume":"4","author":"HT Orr","year":"1993","unstructured":"Orr, H.T. et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 4, 221\u2013226 (1993).","journal-title":"Nature Genet."},{"key":"BFng0297197_CR4","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1038\/ng0194-9","volume":"6","author":"R Koide","year":"1994","unstructured":"Koide, R. et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet. 6, 9\u201313 (1994).","journal-title":"Nature Genet."},{"key":"BFng0297197_CR5","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1038\/ng0194-14","volume":"6","author":"S Nagafuchi","year":"1994","unstructured":"Nagafuchi, S. et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet. 6, 14\u201318 (1994).","journal-title":"Nature Genet."},{"key":"BFng0297197_CR6","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1038\/ng1194-221","volume":"8","author":"Y Kawaguchi","year":"1994","unstructured":"Kawaguchi, Y. et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet. 8, 221\u2013228 (1994).","journal-title":"Nature Genet."},{"key":"BFng0297197_CR7","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/ng1196-285","volume":"14","author":"G Imbert","year":"1996","unstructured":"Imbert, G. et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG\/glutamine repeats. Nature Genet. 14, 285\u2013291 (1996).","journal-title":"Nature Genet."},{"key":"BFng0297197_CR8","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1038\/ng1196-269","volume":"14","author":"S-M Pulst","year":"1996","unstructured":"Pulst, S.-M. et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet. 14, 269\u2013276 (1996).","journal-title":"Nature Genet."},{"key":"BFng0297197_CR9","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1038\/ng1196-277","volume":"14","author":"K Sampei","year":"1996","unstructured":"Sampei, K. et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet. 14, 277\u2013284 (1996).","journal-title":"Nature Genet."},{"key":"BFng0297197_CR10","doi-asserted-by":"publisher","first-page":"1547","DOI":"10.1093\/hmg\/2.10.1547","volume":"2","author":"OC Stine","year":"1993","unstructured":"Stine, O.C. et al. Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15. Hum. Mol. Genet. 2, 1547\u20131549 (1993).","journal-title":"Hum. Mol. Genet."},{"key":"BFng0297197_CR11","first-page":"16","volume":"59","author":"DC Rubinsztein","year":"1996","unstructured":"Rubinsztein, D.C. et al. Phenotypic characterisation of individuals with 30\u201340 CAG repeats in the Huntington's disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36\u201339 repeats. Am. J. Hum. Genet. 59, 16\u201322 (1996).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0297197_CR12","doi-asserted-by":"publisher","first-page":"1003","DOI":"10.1136\/jmg.30.12.1003","volume":"30","author":"Barron L. H.","year":"1993","unstructured":"Barron, L. H. et al. A study of the Huntington's disease associated trinucleotide repeat in the Scottish population. J. Med. Genet. 30, 1003\u20131007 (1993).","journal-title":"J. Med. Genet."},{"key":"BFng0297197_CR13","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1038\/ng0893-398","volume":"4","author":"SE Andrew","year":"1993","unstructured":"Andrew, S.E. et al. The relationship between trinucleotide (CAG) repeat length and the clinical features of Huntington's disease. Nature Genet. 4, 398\u2013403 (1993).","journal-title":"Nature Genet."},{"key":"BFng0297197_CR14","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1038\/ng0893-387","volume":"4","author":"M Duyao","year":"1993","unstructured":"Duyao, M. et al. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nature Genet. 4, 387\u2013392 (1993).","journal-title":"Nature Genet."},{"key":"BFng0297197_CR15","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1038\/ng1193-254","volume":"5","author":"M Chung","year":"1993","unstructured":"Chung, M. et al. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nature Genet. 5, 254\u2013258 (1993).","journal-title":"Nature Genet."},{"key":"BFng0297197_CR16","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1038\/ng0494-409","volume":"6","author":"H Telenius","year":"1994","unstructured":"Telenius, H. et al. Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nature Genet. 6, 409\u2013413 (1994).","journal-title":"Nature Genet."},{"key":"BFng0297197_CR17","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1093\/hmg\/4.4.663","volume":"4","author":"S Ueno","year":"1995","unstructured":"Ueno, S. et al. Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA). Hum. Mol. Genet. 4, 663\u2013666 (1995).","journal-title":"Hum. Mol. Genet."},{"key":"BFng0297197_CR18","doi-asserted-by":"publisher","first-page":"1193","DOI":"10.1016\/0896-6273(95)90106-X","volume":"15","author":"N Aronin","year":"1995","unstructured":"Aronin, N. et al. CAG expansion affects the expression of mutant huntingtin in the Huntington's disease brain. Neuron 15, 1193\u20131201 (1995).","journal-title":"Neuron"},{"key":"BFng0297197_CR19","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1038\/ng0795-344","volume":"10","author":"SS Chong","year":"1995","unstructured":"Chong, S.S. et al. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 10, 344\u2013350 (1995).","journal-title":"Nature Genet."},{"key":"BFng0297197_CR20","first-page":"1212","volume":"58","author":"H Takano","year":"1996","unstructured":"Takano, H. et al. Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability. Am. J. Hum. Genet. 58, 1212\u20131222 (1996).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0297197_CR21","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1016\/0022-510X(95)00249-2","volume":"135","author":"F Tanaka","year":"1996","unstructured":"Tanaka, F. et al. Differential pattern of tissue-specific somatic mosaicism of expanded CAG trinucleotide repeat in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy. J. Neurol. Sci. 135, 43\u201350 (1996).","journal-title":"J. Neurol. Sci."},{"key":"BFng0297197_CR22","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1038\/ng0295-191","volume":"9","author":"PM Bingham","year":"1995","unstructured":"Bingham, P.M. et al. Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice. Nature Genet. 9, 191\u2013196 (1995).","journal-title":"Nature Genet."},{"key":"BFng0297197_CR23","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1093\/hmg\/5.2.177","volume":"5","author":"YP Goldberg","year":"1996","unstructured":"Goldberg, Y.P. et al. Absence of the disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington's disease transcript. Hum. Mol. Genet. 5, 177\u2013185 (1996).","journal-title":"Hum. Mol. Genet."},{"key":"BFng0297197_CR24","doi-asserted-by":"publisher","first-page":"937","DOI":"10.1016\/0092-8674(95)90273-2","volume":"82","author":"EN Burright","year":"1995","unstructured":"Burright, E.N. et al. SCA1 transgenic mice: a model for neurodegeration caused by an expanded CAG trinucleotide repeat. Cell 82, 937\u2013948 (1995).","journal-title":"Cell"},{"key":"BFng0297197_CR25","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1038\/ng0696-196","volume":"13","author":"H Ikeda","year":"1996","unstructured":"Ikeda, H. et al. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nature Genet. 13, 196\u2013202 (1996).","journal-title":"Nature Genet."},{"key":"BFng0297197_CR26","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1016\/S0092-8674(00)81369-0","volume":"87","author":"L Mangiarini","year":"1996","unstructured":"Mangiarini, L. et al. Exon 1 of the Huntington's disease gene containing a highly expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87, 497\u2013506 (1996).","journal-title":"Cell"},{"key":"BFng0297197_CR27","first-page":"735","volume":"49","author":"M Krawczak","year":"1991","unstructured":"Krawczak, M. et al. Covariate-dependent age-at-onset distributions for Huntington's disease. Am. J. Hum. Genet. 49, 735\u2013745 (1991).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0297197_CR28","first-page":"528","volume":"50","author":"LA Farrer","year":"1992","unstructured":"Farrer, L.A., Cupples, L.A., Kiely, D.K., Conneally, P.M. .& Myers, R.H. Inverse relationship between age at onset of Huntington's disease and paternal age suggests involvement of genetic imprinting. Am. J. Hum. Genet. 50, 528\u2013535 (1992).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0297197_CR29","unstructured":"Hogan, B., Beddington, R., Constantini, F. & Lacy, E. Manipulating the mouse embryo, a laboratory manual. (Cold Spring Harbor Press, New York, 1994)."},{"key":"BFng0297197_CR30","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1093\/hmg\/2.6.637","volume":"2","author":"O Riess","year":"1993","unstructured":"Riess, O., Noerremoelle, A., Soerensen, S.A. & Epplen, J.T. Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease. Hum. Mol. Genet. 2, 637 (1993).","journal-title":"Hum. Mol. Genet."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0297-197","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0297-197.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0297-197.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:22:28Z","timestamp":1684441348000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0297-197"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,2]]},"references-count":30,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1997,2]]}},"alternative-id":["BFng0297197"],"URL":"https:\/\/doi.org\/10.1038\/ng0297-197","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,2]]}}}