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

Molecular analysis of Friedreich's ataxia locus in the Indian population.

Acta neurologica Scandinavica - 1 Oct 2000

Mukerji M, Choudhry S, Saleem Q, Padma M V, Maheshwari M C, Jain S

Abstract excerpt

OBJECTIVES: Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in the frataxin gene. We have carried out the first molecular analysis at the Friedreich's ataxia locus in the Indian population. MATERIALS AND METHODS: Three families clinically diagnosed for Friedreich's ataxia were analyzed for GAA expansion at the FRDA locus. The distribution of GAA...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to DNA Primers
Share to Friedreich Ataxia

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

Share to Gene Expression

Share to GAA gene

Share to Prevalence

Share to Trinucleotide Repeats

Source

Identifiers

PMID: 11071107
DOI: 10.1034/j.1600-0404.2000.102004227.x

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

Molecular analysis of Friedreich's ataxia locus in the Indian population.PMID 11071107Read ↗

Genetic testing for clinically suspected spinocerebellar ataxias: report from a tertiary referral centre in India.Semantic proximity Read ↗

Investigation of mitochondrial DNA variations among Indian Friedreich's ataxia (FRDA) patients.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 ↗

North and South Indian populations share a common ancestral origin of Friedreich's ataxia but vary in age of GAA repeat expansion.Semantic proximity Read ↗

Identification and the origin of GAA expansion in FGF14 (Spinocerebellar Ataxia Type 27B): an insight from Indian subcontinent suggests an ancient originSemantic proximity Read ↗

Accurate and simple FXN-GAA repeats (Friedreich ataxia loci) estimation by long read targeted sequencingSemantic proximity Read ↗

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.Semantic proximity Read ↗

Investigation of<i>RFC1</i>tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohortSemantic proximity Read ↗

Phylogenetic analysis of the Friedreich ataxia GAA trinucleotide repeat.Semantic proximity Read ↗

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

Identification and sizing of GAA trinucleotide repeat expansion, investigation for D-loop variations and mitochondrial deletions in Iranian patients with Friedreich's ataxia.Semantic proximity Read ↗

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

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