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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Detalles Bibliográficos
Autores principales: Fraint, Avram, Vittal, Padmaja, Szewka, Aimee, Bernard, Bryan, Berry-Kravis, Elizabeth, Hall, Deborah A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2014
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4201107/
https://www.ncbi.nlm.nih.gov/pubmed/25368631
http://dx.doi.org/10.3389/fgene.2014.00365

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4201107/
https://www.ncbi.nlm.nih.gov/pubmed/25368631
http://dx.doi.org/10.3389/fgene.2014.00365

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