Wednesday, July 30, 2014

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 retardation1 premutation. Penetrance and expression appear to be significantly higher in males than females.

Although the most obvious…

The cognitive neuropsychological phenotype of carriers of the FMR1 premutation




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