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Article

Capturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts.

Neuropsychology - 1 Mar 2012

Hunter Jessica Ezzell, Sherman Stephanie, Grigsby Jim, Kogan Cary, Cornish Kim

Abstract excerpt

OBJECTIVE: To capture the neuropsychological profile among male carriers of the FMR1 premutation allele (55-200 CGG repeats) who do not meet diagnostic criteria for the late-onset fragile X-associated tremor/ataxia syndrome, FXTAS. METHOD: We have initiated a multicenter collaboration that includes 3 independent cohorts, totaling 100 carriers of the premutation and 216 noncarriers. The initial focus of this...

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Source

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Identifiers

PMID: 22251309
DOI: 10.1037/a0026799
PMCID: PMC3295926

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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