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Spectrin mutations cause spinocerebellar ataxia type 5.
Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Dürr A, Zühlke C, Bürk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP. Ikeda Y, et al. Nat Genet. 2006 Feb;38(2):184-90. doi: 10.1038/ng1728. Epub 2006 Jan 22. Nat Genet. 2006. PMID: 16429157
RNA gain-of-function in spinocerebellar ataxia type 8.
Daughters RS, Tuttle DL, Gao W, Ikeda Y, Moseley ML, Ebner TJ, Swanson MS, Ranum LP. Daughters RS, et al. Among authors: ikeda y. PLoS Genet. 2009 Aug;5(8):e1000600. doi: 10.1371/journal.pgen.1000600. Epub 2009 Aug 14. PLoS Genet. 2009. PMID: 19680539 Free PMC article.
Spinocerebellar ataxia type 5.
Dick KA, Ikeda Y, Day JW, Ranum LP. Dick KA, et al. Among authors: ikeda y. Handb Clin Neurol. 2012;103:451-9. doi: 10.1016/B978-0-444-51892-7.00028-0. Handb Clin Neurol. 2012. PMID: 21827906 Review.
CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.
Perez BA, Shorrock HK, Banez-Coronel M, Zu T, Romano LE, Laboissonniere LA, Reid T, Ikeda Y, Reddy K, Gomez CM, Bird T, Ashizawa T, Schut LJ, Brusco A, Berglund JA, Hasholt LF, Nielsen JE, Subramony SH, Ranum LP. Perez BA, et al. Among authors: ikeda y. EMBO Mol Med. 2021 Nov 8;13(11):e14095. doi: 10.15252/emmm.202114095. Epub 2021 Oct 11. EMBO Mol Med. 2021. PMID: 34632710 Free PMC article.
5,447 results