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Fragile X

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https://www.readbyqxmd.com/read/23790110/microrna-expression-profiling-in-blood-from-fragile-x-associated-tremor-ataxia-syndrome-patients
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M I Alvarez-Mora, L Rodriguez-Revenga, I Madrigal, F Torres-Silva, E Mateu-Huertas, E Lizano, M R Friedländer, E Martí, X Estivill, M Milà
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with FMR1 gene premutation alleles (55-200 CGG repeats). Fragile X-associated tremor/ataxia syndrome clinical core features include action tremor, gait ataxia, cognitive deficits progressing to dementia, and frequently parkinsonism. Although the pathogenic molecular mechanism of FXTAS is not completely understood, the restriction of the phenotype to the FMR1 premutation range has given rise to a model based on a RNA toxic gain-of-function...
August 2013: Genes, Brain, and Behavior
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