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Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways
BACKGROUND: Smaller expansions of CGG trinucleotide repeats in the FMR1 X-linked gene termed ‘premutation’ lead to a neurodegenerative disorder: Fragile X Associated Tremor/Ataxia Syndrome (FXTAS) in nearly half of aged carrier males, and 8–16% females. Core features include intention tremor, ataxia...
Autores principales: | Storey, Elsdon, Bui, Minh Q., Stimpson, Paige, Tassone, Flora, Atkinson, Anna, Loesch, Danuta Z. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8196444/ https://www.ncbi.nlm.nih.gov/pubmed/34116720 http://dx.doi.org/10.1186/s40673-021-00138-0 |
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