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

[Rare forms of autosomal recessive spinocerebellar ataxia associated with mutations in the ANO10 (ATX-ANO10) and SYNE1 (ATX-SYNE1) genes].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2024

Nuzhnyi E P, Protopopova A O, Abramycheva N Yu, Protsenko A R, Illarioshkin S N

Abstract excerpt

OBJECTIVE: To analyze clinical and genetic characteristics of patients with the verified rare forms of autosomal recessive spinocerebellar ataxias, ATX-ANO10 and ATX-SYNE1. MATERIAL AND METHODS: Six unrelated patients with established diagnoses were examined: 4 patients with ATX-ANO10 and 2 patients with ATX-SYNE1. Brain MRI and nerve conduction study were performed. To screen for cognitive impairment, the scale...

Read the complete abstract on PubMed

Topics

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

Share to Anoctamins
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to Magnetic Resonance Imaging

Share to Mutation, Missense

Share to Nerve Tissue Proteins

Share to Nuclear Proteins

Share to Spinocerebellar Ataxias

Source

Identifiers

PMID: 39269294
DOI: 10.17116/jnevro202412408132

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Rare forms of autosomal recessive spinocerebellar ataxia associated with mutations in the ANO10 (ATX-ANO10) and SYNE1 (ATX-SYNE1) genes].PMID 39269294Read ↗

Identifying Gene Mutations in Autosomal Recessive Cerebellar Ataxias and Extending the Mutational Spectrum in ChinaSemantic proximity Read ↗

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.Semantic proximity Read ↗

Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.Semantic proximity Read ↗

Identifying SYNE1 ataxia and extending the mutational spectrum in Korea.Semantic proximity Read ↗

Two Cases of Autosomal Recessive Spinocerebellar Ataxia-8 Showing Two Novel Variants of SYNE1 in Japanese Families.Semantic proximity Read ↗

Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.Semantic proximity Read ↗

Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.Semantic proximity Read ↗

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.Semantic proximity Read ↗

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.Semantic proximity Read ↗

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

Spinocerebellar ataxia type 10 - A review.Semantic proximity Read ↗

SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey.Semantic proximity Read ↗

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