Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene.

Clinical genetics - 1 Jul 2012

Loesch D Z, Sherwell S, Kinsella G, Tassone F, Taylor A, Amor D, Sung S, Evans A

Abstract excerpt

The Fragile X syndrome is caused by a CGG repeat expansion >200 in the promoter of the Fragile X mental retardation 1 (FMR1) gene termed full mutation (FM). These alleles are silenced through methylation of the FMR1 promoter, leading to deficit of the FMR1 protein (FMRP), and neurodevelopmental changes. However, occasional FM individuals have a complete lack of methylation, and those typically have only minor...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alcoholism
Share to Ataxia
Share to DNA Methylation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Fragile X Mental Retardation Protein

Share to Fragile X Syndrome

Share to Promoter Regions, Genetic

Share to Tremor

Share to Trinucleotide Repeats

Source

Identifiers

PMID: 21476992
DOI: 10.1111/j.1399-0004.2011.01675.x

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene.PMID 21476992Read ↗

Elevated FMR1-mRNA and lowered FMRP - A double-hit mechanism for psychiatric features in men with FMR1 premutations.Semantic proximity Read ↗

CGG repeat in the FMR1 gene: size matters.Semantic proximity Read ↗

Unstable mutations in the FMR1 gene and the phenotypes.Semantic proximity Read ↗

Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report.Semantic proximity Read ↗

Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.Semantic proximity Read ↗

High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome.Semantic proximity Read ↗

Altered expression of the FMR1 splicing variants landscape in premutation carriers.Semantic proximity Read ↗

FXTAS: a progressive neurologic syndrome associated with Fragile X premutation.Semantic proximity Read ↗

Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male.Semantic proximity Read ↗

The fragile X premutation: into the phenotypic fold.Semantic proximity Read ↗

Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program.Semantic proximity Read ↗

The molecular mechanisms that underlie fragile X-associated premature ovarian insufficiency: is it RNA or protein based?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.