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White matter microstructure, cognition, and molecular markers in fragile X premutation females

5 May 2017

Abstract excerpt

Objective: To examine the interrelationships between fragile X mental retardation 1 (FMR1) mRNA and the FMR1 exon 1/intron 1 boundary methylation, white matter microstructure, and executive function, in women with a FMR1 premutation expansion (PM; 55–199 CGG repeats) and controls (CGG < 44). Methods: Twenty women with PM without fragile X-associated tremor/ataxia syndrome (FXTAS) and 20 control women between 22...

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PMID: 28476762
DOI: 10.1212/wnl.0000000000003979

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