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

Locus heterogeneity in Friedreich ataxia.

Neurogenetics - 1 May 1997

Kostrzewa M, Klockgether T, Damian M S, Müller U

Abstract excerpt

Friedreich ataxia (FRDA) is the most common form of autosomal recessive ataxia. The disease locus was assigned to chromosome 9 and the disease gene, STM7/X25, has been isolated. To date most data suggest locus homogeneity in FRDA. We now provide strong evidence of a second FRDA locus. Studying two siblings with FRDA from two families we did not detect a mutation in STM7/X25. Haplotype analysis of the STM7/X25...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Chromosomes, Human, Pair 9
Share to Frataxin

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

Share to Friedreich Ataxia

Share to Genetic Heterogeneity

Share to Iron-Binding Proteins

Share to Phosphotransferases (Alcohol Group Acceptor)

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 10735274
DOI: 10.1007/s100480050007

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 · 12 closest

Locus heterogeneity in Friedreich ataxia.PMID 10735274Read ↗

Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.Semantic proximity Read ↗

Friedreich's ataxia. Revision of the phenotype according to molecular genetics.Semantic proximity Read ↗

Linkage disequilibrium analysis of Friedreich's ataxia in 140 Caucasian families: positioning of the disease locus and evaluation of allelic heterogeneity.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 ↗

Polymorphism analysis of Fukuyama type congenital muscular dystrophy (FCMD) siblings with different phenotypes.Semantic proximity Read ↗

A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus.Semantic proximity Read ↗

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

Trinucleotide (GAA)n repeat expansion in two families with Friedreich's ataxia with retained reflexes.Semantic proximity Read ↗

A family with pseudodominant Friedreich's ataxia showing marked variation of phenotype between affected siblings.Semantic proximity Read ↗

Allele frequencies of DNA markers genetically linked to Friedreich ataxia in the German population.Semantic proximity Read ↗

Evidence of a genetic marker associated with early onset in Friedreich's ataxia.Semantic proximity Read ↗

Chromosome 9 ALS and FTD locus is probably derived from a single founder.Semantic proximity Read ↗

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