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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. Cerebellum. 2020 Jun;19(3):446-458. doi: 10.1007/s12311-020-01109-7. Cerebellum. 2020. PMID: 32086717 Free PMC article. Review.
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. 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.