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Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family".
Pellerin D, Iruzubieta P, Tekgül Ş, Danzi MC, Ashton C, Dicaire MJ, Wandzel M, Roth V, Lamont PJ, Bonnet C, Renaud M, Synofzik M, Zuchner S, Brais B, Başak NA, Houlden H. Pellerin D, et al. Among authors: danzi mc. Mov Disord. 2023 Aug;38(8):1575-1577. doi: 10.1002/mds.29552. Mov Disord. 2023. PMID: 37565404 No abstract available.
Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia.
Novis LE, Frezatti RS, Pellerin D, Tomaselli PJ, Alavi S, Della Coleta MV, Spitz M, Dicaire MJ, Iruzubieta P, Pedroso JL, Barsottini O, Cortese A, Danzi MC, França MC Jr, Brais B, Zuchner S, Houlden H, Raskin S, Marques W, Teive HA. Novis LE, et al. Among authors: danzi mc. Neurol Genet. 2023 Aug 28;9(5):e200094. doi: 10.1212/NXG.0000000000200094. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37646005 Free PMC article.
73 results