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The cognitive neuropsychological phenotype of carriers of the FMR1 premutation

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting a subset of carriers of the FMR1 (fragile X mental retardation 1) premutation. Penetrance and expression appear to be significantly higher in males than females. Although the most obvious asp...

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Detalles Bibliográficos
Autores principales: Grigsby, Jim, Cornish, Kim, Hocking, Darren, Kraan, Claudine, Olichney, John M, Rivera, Susan M, Schneider, Andrea, Sherman, Stephanie, Wang, Jun Yi, Yang, Jin-Chen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135346/
https://www.ncbi.nlm.nih.gov/pubmed/25136377
http://dx.doi.org/10.1186/1866-1955-6-28