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

Pathogenic variants in TUBB4A are not found in primary dystonia.

Neurology - 8 Apr 2014

Vemula Satya R, Xiao Jianfeng, Bastian Robert W, Momčilović Dragana, Blitzer Andrew, LeDoux Mark S

Abstract excerpt

OBJECTIVE: To determine the contribution of TUBB4A, recently associated with DYT4 dystonia in a pedigree with "whispering dysphonia" from Norfolk, United Kingdom, to the etiopathogenesis of primary dystonia. METHODS: High-resolution melting and Sanger sequencing were used to inspect the entire coding region of TUBB4A in 575 subjects with primary laryngeal, segmental, or generalized dystonia. RESULTS: No...

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 Aged
Share to Dystonic Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Genetic Testing

Share to Leukoencephalopathies

Share to Tubulin

Share to United Kingdom

Source

Open in PubMed Open full text

Identifiers

PMID: 24598712
DOI: 10.1212/WNL.0000000000000294
PMCID: PMC4001202

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pathogenic variants in TUBB4A are not found in primary dystonia.PMID 24598712Read ↗

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.Semantic proximity Read ↗

Screening study of TUBB4A in isolated dystonia.Semantic proximity Read ↗

DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.Semantic proximity Read ↗

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.Semantic proximity Read ↗

Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.Semantic proximity Read ↗

Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.Semantic proximity Read ↗

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.Semantic proximity Read ↗

Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.Semantic proximity Read ↗

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.Semantic proximity Read ↗

The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia.Semantic proximity Read ↗

H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?Semantic proximity Read ↗

Assessment of D216H DYT1 polymorphism in a Chinese primary dystonia patient cohort.Semantic proximity Read ↗

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