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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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| Gepubliceerd in: | Rev Neurol |
|---|---|
| Hoofdauteurs: | , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
2019
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| Onderwerpen: | |
| Online toegang: | 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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