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Identification of genes that modify ataxin-1-induced neurodegeneration.
Fernandez-Funez P, Nino-Rosales ML, de Gouyon B, She WC, Luchak JM, Martinez P, Turiegano E, Benito J, Capovilla M, Skinner PJ, McCall A, Canal I, Orr HT, Zoghbi HY, Botas J. Fernandez-Funez P, et al. Nature. 2000 Nov 2;408(6808):101-6. doi: 10.1038/35040584. Nature. 2000. PMID: 11081516
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus.
Kwiatkowski TJ Jr, Orr HT, Banfi S, McCall AE, Jodice C, Persichetti F, Novelletto A, LeBorgne-DeMarquoy F, Duvick LA, Frontali M, et al. Kwiatkowski TJ Jr, et al. Among authors: mccall ae. Am J Hum Genet. 1993 Aug;53(2):391-400. Am J Hum Genet. 1993. PMID: 8101039 Free PMC article.
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.
Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T. Matsuura T, et al. Among authors: mccall ae. Nat Genet. 2000 Oct;26(2):191-4. doi: 10.1038/79911. Nat Genet. 2000. PMID: 11017075
23 results