Loading...

Fragile X associated tremor/ataxia syndrome: Clinical presentation, pathology, and treatment

The fragile X‑associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disease associated with the repetition of CGG triplets (55–200 CGG repetitions) in the FMR1 gene. The premutation of the FMR1 gene, contrasting with the full mutation (more than 200 CGG repetitions), present an increased...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Rev Neurol
Main Authors: Salcedo-Arellano, María Jimena, Hagerman, Randi J, Martínez-Cerdeño, Verónica
Format: Artigo
Sprog:Inglês
Udgivet: 2019
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7001878/
https://ncbi.nlm.nih.gov/pubmed/30805918
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.33588/rn.6805.2018457
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!