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Extended haplotype with rs41524547-G defines the ancestral origin of SCA10.
McFarland KN, Tiwari A, Hashem V, Zhang L, Zeng D, Vincent J, Arredondo MJ, Johnson KL, Gan SR, Yabe I, Skov L, Rasmussen A, Ashizawa T. McFarland KN, et al. Hum Mol Genet. 2024 Sep 3;33(18):1567-1574. doi: 10.1093/hmg/ddae092. Hum Mol Genet. 2024. PMID: 38832639 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. 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.
SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias.
Uebachs M, Wegner P, Schaaf S, Kugai S, Jacobi H, Kuo SH, Ashizawa T, Fluck J; EUROSCA study group; ESMI study group; RISCA study group; CRC-SCA study group; SCA Registry study group; Klockgether T, Faber J. Uebachs M, et al. Cerebellum. 2024 Jun;23(3):887-895. doi: 10.1007/s12311-023-01546-0. Epub 2023 Mar 31. Cerebellum. 2024. PMID: 37002505 Free PMC article.