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Article

Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2009

Hunter Jessica Ezzell, Abramowitz Ann, Rusin Michele, Sherman Stephanie L

Abstract excerpt

Carriers of expanded, but unmethylated, premutation alleles of the fragile X mental retardation gene are at risk for a late-onset tremor/ataxia syndrome, mostly affecting men over age 50. However, the general neuropsychological and neurobehavioral impact of carrying a premutation allele in younger adults not affected by the tremor/ataxia syndrome remains unclear. Past studies have utilized varying study designs...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19265746
DOI: 10.1097/GIM.0b013e31818de6ee
PMCID: PMC2652667

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.

Related research

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Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature.PMID 19265746Read ↗

Neuropsychological findings from older premutation carrier males and their noncarrier siblings from families with fragile X syndrome.Semantic proximity Read ↗

Capturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts.Semantic proximity Read ↗

Fragile X premutation carriers: A systematic review of neuroimaging findings.Semantic proximity Read ↗

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.Semantic proximity Read ↗

Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele.Semantic proximity Read ↗

Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathwaysSemantic proximity Read ↗

Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways.Semantic proximity Read ↗

The emerging fragile X premutation phenotype: evidence from the domain of social cognition.Semantic proximity Read ↗

FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.Semantic proximity Read ↗

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Selective executive markers of at-risk profiles associated with the fragile X premutation.Semantic proximity Read ↗

Neuropsychiatry of fragile X-premutation carriers with and without fragile X-associated tremor-ataxia syndrome: implications for neuropsychology.Semantic proximity Read ↗

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