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

Tremor-Ataxia syndrome and primary ovarian insufficiency in an FMR1 premutation carrier.

Colombia medica (Cali, Colombia) - 30 Sept 2017

Saldarriaga-Gil Wilmar, Rodriguez-Guerrero Tatiana, Fandiño-Losada Andres, Ramirez-Cheyne Julian

Abstract excerpt

INTRODUCTION: The FMR1 gene has four allelic variants according to the number of repeats of the CGG triplet. Premutation carriers with between 55 and 200 repeats are susceptible to developing pathologies such as tremor and ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) syndrome. CASE DESCRIPTION: The patient was a 53-year-old female farmer with severe tremor in the upper...

Read the complete abstract on PubMed

Topics

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

Share to Ataxia
Share to Blotting, Southern
Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Syndrome

Share to Polymerase Chain Reaction

Share to Primary Ovarian Insufficiency

Share to Tremor

Share to Trinucleotide Repeats

Source

Open in PubMed Open full text

Identifiers

PMID: 29299012
DOI: 10.25100/cm.v48i3.3019
PMCID: PMC5687867

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Tremor-Ataxia syndrome and primary ovarian insufficiency in an FMR1 premutation carrier.PMID 29299012Read ↗

Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency.Semantic proximity Read ↗

[Clinical guideline of gene FMR1-associated diseases: fragile X syndrome, primary ovarian insufficiency and tremor-ataxia syndrome].Semantic proximity Read ↗

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.Semantic proximity Read ↗

[FMR1 PREMUTATION CARRIERS - ARE THEY REALLY ASYMPTOMATIC?]Semantic proximity Read ↗

Understanding decreased fertility in women carriers of the FMR1 premutation: a possible mechanism for Fragile X-Associated Primary Ovarian Insufficiency (FXPOI).Semantic proximity Read ↗

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

Expanded clinical phenotype of women with the FMR1 premutation.Semantic proximity Read ↗

Health problems in females carriers of premutation in the FMR1 gene.Semantic proximity Read ↗

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

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

[Fragile X-associated tremor/ataxia syndrome].Semantic proximity Read ↗

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