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

The clinical diagnosis of autosomal dominant spinocerebellar ataxias.

Cerebellum (London, England) - 1 Jan 2008

Klockgether Thomas

Abstract excerpt

The spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal dominantly inherited progressive ataxia diseases. Up to now, almost 30 different gene loci have been found. In 14 of them, the underlying mutations have been identified. The more common SCAs, SCA1, 2, 3 and 6 are due to tra...

Read the complete abstract on PubMed

Topics

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

Share to Ataxin-1
Share to Ataxins
Share to Genes, Dominant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Incidence

Share to Peptides

Share to Protein Biosynthesis

Share to Spinocerebellar Ataxias

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 18418679
DOI: 10.1007/s12311-008-0023-2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18418679-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The clinical diagnosis of autosomal dominant spinocerebellar ataxias.PMID 18418679Read ↗

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.Semantic proximity Read ↗

Spinocerebellar ataxias.Semantic proximity Read ↗

Spinocerebellar ataxia: relationship between phenotype and genotype - a review.Semantic proximity Read ↗

Diagnosis of Spinocerebellar Ataxias Caused by Trinucleotide Repeat Expansions.Semantic proximity Read ↗

Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia.Semantic proximity Read ↗

The spinocerebellar ataxias.Semantic proximity Read ↗

Spinocerebellar Ataxia in Brazil: A Comprehensive Genotype - Phenotype Analysis.Semantic proximity Read ↗

Spinocerebellar ataxia type 11 (SCA11): An update.Semantic proximity Read ↗

Hereditary ataxias: overview.Semantic proximity Read ↗

Spinocerebellar Ataxia in Brazil: A Comprehensive Genotype–Phenotype AnalysisSemantic proximity Read ↗

Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.Semantic proximity Read ↗

Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.Semantic proximity Read ↗

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