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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...

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Dettagli Bibliografici
Pubblicato in:Rev Neurol
Autori principali: Salcedo-Arellano, María Jimena, Hagerman, Randi J, Martínez-Cerdeño, Verónica
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2019
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Accesso online: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
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