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

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].

American journal of human genetics - 1 Jan 2003

van Swieten John C, Brusse Esther, de Graaf Bianca M, Krieger Elmar, van de Graaf Raoul, de Koning Inge, Maat-Kievit Anneke, Leegwater Peter, Dooijes Dennis, Oostra Ben A, Heutink Peter

Abstract excerpt

Hereditary spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders for which >/=14 different genetic loci have been identified. In some SCA types, expanded tri- or pentanucleotide repeats have been identified, and the length of these expa...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Chromosomes, Human, Pair 13

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroblast Growth Factors

Share to Genes, Dominant

Share to Magnetic Resonance Imaging

Share to Models, Molecular

Share to Protein Conformation

Share to Spinocerebellar Ataxias

Source

Open in PubMed Open full text

Identifiers

PMID: 12489043
DOI: 10.1086/345488
PMCID: PMC378625

Genes

FGF14

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12489043-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].PMID 12489043Read ↗

Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.Semantic proximity Read ↗

Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.Semantic proximity Read ↗

A novel intronic GAA repeat expansion in<i>FGF14</i>causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14)Semantic proximity Read ↗

Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings.Semantic proximity Read ↗

Clinical variability associated with intronic FGF14 GAA repeat expansion in JapanSemantic proximity Read ↗

A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene.Semantic proximity Read ↗

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsSemantic proximity Read ↗

Identification of FGF14 GAA expansions in Polish patients with undiagnosed cerebellar ataxia – a preliminary studySemantic proximity Read ↗

Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype.Semantic proximity Read ↗

[Spinocerebellar ataxia-27: description of the clinical phenotype of two twin sisters with a deletion in the FGF14 gene].Semantic proximity Read ↗

Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia.Semantic proximity Read ↗

Advancing molecular, phenotypic and mechanistic insights of<i>FGF14</i>pathogenic expansions (SCA27B)Semantic proximity Read ↗

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