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ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10.
Morato Torres CA, Zafar F, Tsai YC, Vazquez JP, Gallagher MD, McLaughlin I, Hong K, Lai J, Lee J, Chirino-Perez A, Romero-Molina AO, Torres F, Fernandez-Ruiz J, Ashizawa T, Ziegle J, Jiménez Gil FJ, Schüle B. Morato Torres CA, et al. Among authors: ashizawa t. HGG Adv. 2022 Aug 15;3(4):100137. doi: 10.1016/j.xhgg.2022.100137. eCollection 2022 Oct 13. HGG Adv. 2022. PMID: 36092952 Free PMC article.
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10.
Matsuura T, Fang P, Lin X, Khajavi M, Tsuji K, Rasmussen A, Grewal RP, Achari M, Alonso ME, Pulst SM, Zoghbi HY, Nelson DL, Roa BB, Ashizawa T. Matsuura T, et al. Among authors: ashizawa t. Am J Hum Genet. 2004 Jun;74(6):1216-24. doi: 10.1086/421526. Epub 2004 May 4. Am J Hum Genet. 2004. PMID: 15127363 Free PMC article.
Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean.
Rodríguez-Labrada R, Martins AC, Magaña JJ, Vazquez-Mojena Y, Medrano-Montero J, Fernandez-Ruíz J, Cisneros B, Teive H, McFarland KN, Saraiva-Pereira ML, Cerecedo-Zapata CM, Gomez CM, Ashizawa T, Velázquez-Pérez L, Jardim LB; PanAmerican Hereditary Ataxia Network. Rodríguez-Labrada R, et al. Among authors: ashizawa t. Cerebellum. 2020 Jun;19(3):446-458. doi: 10.1007/s12311-020-01109-7. Cerebellum. 2020. PMID: 32086717 Free PMC article. Review.
Pulse-Field capillary electrophoresis of repeat-primed PCR amplicons for analysis of large repeats in Spinocerebellar Ataxia Type 10.
Hashem V, Tiwari A, Bewick B, Teive HAG, Moscovich M, Schüele B, Bushara K, Bower M, Rasmussen A, Tsai YC, Clark T, McFarland K, Ashizawa T. Hashem V, et al. Among authors: ashizawa t. PLoS One. 2020 Mar 11;15(3):e0228789. doi: 10.1371/journal.pone.0228789. eCollection 2020. PLoS One. 2020. PMID: 32160188 Free PMC article.
Correction: Pulse-Field capillary electrophoresis of repeat-primed PCR amplicons for analysis of large repeats in Spinocerebellar Ataxia Type 10.
Hashem V, Tiwari A, Bewick B, Teive HAG, Moscovich M, Schüle B, Bushara K, Bower M, Rasmussen A, Tsai YC, Clark T, McFarland K, Ashizawa T. Hashem V, et al. Among authors: ashizawa t. PLoS One. 2020 Apr 16;15(4):e0231746. doi: 10.1371/journal.pone.0231746. eCollection 2020. PLoS One. 2020. PMID: 32298361 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: ashizawa t. Nat Genet. 2000 Oct;26(2):191-4. doi: 10.1038/79911. Nat Genet. 2000. PMID: 11017075
492 results