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

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases.

Neurology - 10 Jul 2012

Sailer Anna, Scholz Sonja W, Gibbs J Raphael, Tucci Arianna, Johnson Janel O, Wood Nicholas W, Plagnol Vincent, Hummerich Holger, Ding Jinhui, Hernandez Dena, Hardy John, Federoff Howard J, Traynor Bryan J, Singleton Andrew B, Houlden Henry

Abstract excerpt

OBJECTIVE: Genetic heterogeneity is common in many neurologic disorders. This is particularly true for the hereditary ataxias where at least 36 disease genes or loci have been described for spinocerebellar ataxia and over 100 genes for neurologic disorders that present primarily with ataxia. Traditional genetic testing of a large number of candidate genes delays diagnosis and is expensive. In contrast, recently...

Read the complete abstract on PubMed

Topics

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

Share to Arginine
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Glycine

Share to Pedigree

Share to Protein Kinase C

Share to Spinocerebellar Ataxias

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 22675081
DOI: 10.1212/WNL.0b013e31825f048e
PMCID: PMC3390538

Genes

PRKCG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases.PMID 22675081Read ↗

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.Semantic proximity Read ↗

Exome sequencing as a diagnostic tool for pediatric-onset ataxia.Semantic proximity Read ↗

Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders.Semantic proximity Read ↗

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.Semantic proximity Read ↗

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.Semantic proximity Read ↗

Exome sequencing in undiagnosed inherited and sporadic ataxias.Semantic proximity Read ↗

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.Semantic proximity Read ↗

Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia.Semantic proximity Read ↗

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.Semantic proximity Read ↗

Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.Semantic proximity Read ↗

Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.Semantic proximity Read ↗

Integrated whole exome sequencing and functional approach delineate genetic heterogeneity in cerebellar ataxiasSemantic proximity Read ↗

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