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

Mutation analysis of the TATA box-binding protein (TBP) gene in Russian patients with spinocerebellar ataxia and Huntington disease-like phenotype.

Clinical neurology and neurosurgery - 1 Nov 2022

Ivanova Ekaterina, Nuzhnyi Evgenii, Abramycheva Natalia, Klyushnikov Sergey, Fedotova Ekaterina, Illarioshkin Sergey

Abstract excerpt

OBJECTIVE: We aimed to analyze the occurrence and clinical and genetic characteristics of spinocerebellar ataxia type 17 (SCA17) among Russian patients with progressive cerebellar ataxia or Huntington disease-like phenotype. METHODS: Genetic analysis of CAG/CAA repeats in TBP gene was carried out in 217 patients, including 153 patients with progressive unspecified ataxia and 64 patients with Huntington...

Read the complete abstract on PubMed

Topics

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

Share to Ataxia
Share to Cerebellar Ataxia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chorea

Share to Huntington Disease

Share to Mutation

Share to Phenotype

Share to Spinocerebellar Ataxias

Share to TATA Box

Source

Identifiers

PMID: 36252335
DOI: 10.1016/j.clineuro.2022.107473

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation analysis of the TATA box-binding protein (TBP) gene in Russian patients with spinocerebellar ataxia and Huntington disease-like phenotype.PMID 36252335Read ↗

Mutation analysis of the TATA box-binding protein (TBP) gene in Chinese Han patients with spinocerebellar ataxia.Semantic proximity Read ↗

Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.Semantic proximity Read ↗

Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein.Semantic proximity Read ↗

Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).Semantic proximity Read ↗

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.Semantic proximity Read ↗

Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation.Semantic proximity Read ↗

Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: a case report.Semantic proximity Read ↗

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17Semantic proximity Read ↗

Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene.Semantic proximity Read ↗

Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach.Semantic proximity Read ↗

Early-onset SCA17 with 43 TBP repeats: expanding the phenotype?Semantic proximity Read ↗

[Spinocerebellar ataxia 17: full phenotype in a 42 CAG/CAA-repeats carrier].Semantic proximity Read ↗

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