New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype

Purpose: Fragile X-associated tremor/ataxia syndrome (FXTAS) was originally defined as tremor, ataxia, cognitive decline, and parkinsonism in individuals who carry between 55 and 200 CGG repeats in the promoter region of the fragile X mental retardation 1 (FMR1) gene. This paper describes a series o...

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Detalhes bibliográficos
Main Authors: Fraint, Avram, Vittal, Padmaja, Szewka, Aimee, Bernard, Bryan, Berry-Kravis, Elizabeth, Hall, Deborah A.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2014
Assuntos:
Pediatrics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4201107/
https://ncbi.nlm.nih.gov/pubmed/25368631
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2014.00365
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