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

Classical Friedreich's ataxia and its genotype.

European neurology - 1 Jan 1999

Martin J, Martin L, Löfgren A, D'Hooghe M, Storm K, Balemans W, Palau F, Van Broeckhoven C

Abstract excerpt

Fourteen patients with classical features of Friedreich's ataxia (FRDA) were examined. The clinical diagnosis of FRDA was afterwards confirmed in all patients by the appropriate DNA investigation which showed markedly increased amounts of GAA repeats on both alleles of the frataxin gene. None of our patients presented with atypical features such as late-onset FRDA, FRDA with retained deep tendon reflexes or with...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Age of Onset
Share to Frataxin

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

Share to Friedreich Ataxia

Share to Iron-Binding Proteins

Share to Phosphotransferases (Alcohol Group Acceptor)

Share to Trinucleotide Repeat Expansion

Share to Trinucleotide Repeats

Source

Identifiers

PMID: 10473983
DOI: 10.1159/000069420

Genes

GAA

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 · 11 closest

Classical Friedreich's ataxia and its genotype.PMID 10473983Read ↗

Freidreich's ataxia with retained reflexes: a phenotype and genotype correlation.Semantic proximity Read ↗

Very late-onset Friedreich's ataxia with rapid course mimicking as possible multiple system atrophy cerebellar type.Semantic proximity Read ↗

New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation.Semantic proximity Read ↗

Friedreich's ataxia: clinical heterogeneity in two sisters.Semantic proximity Read ↗

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion.Semantic proximity Read ↗

[Molecular genetic diagnosis of Friedreich's ataxia. Ten years experience based on blood sample analysis].Semantic proximity Read ↗

Clinical and genetic abnormalities in patients with Friedreich's ataxia.Semantic proximity Read ↗

Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.Semantic proximity Read ↗

Markedly different course of Friedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene.Semantic proximity Read ↗

Clinical and genetic study of Friedreich ataxia in an Australian populationSemantic proximity Read ↗

Early onset cerebellar ataxia and preservation of tendon reflexes: clinical phenotypes associated with GAA trinucleotide repeat expanded and non-expanded genotypes.Semantic proximity Read ↗

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