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[Ataxia with oculomotor apraxia type 4 detected by next-generation sequencing].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2000

Rudenskaya G E, Surkova E I, Konovalov F A

Abstract excerpt

Ataxias with oculomotor apraxia (AOA) belong to autosomal recessive ataxias. Their common feature is oculomotor apraxia: inability to coordinate eye movements not due to muscle weakness. Next-generation sequencing (NGS) gives unique opportunities of rare disorders diagnostics and discovering of new forms, including AOA. In 2015, AOA type 4 produced by PNKP mutations was delineated in a group of Portuguese...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29652299
DOI: 10.17116/jnevro20181183110-14

Genes

PNKP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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[Ataxia with oculomotor apraxia type 4 detected by next-generation sequencing].PMID 29652299Read ↗

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Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.Semantic proximity Read ↗

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.Semantic proximity Read ↗

[Ataxia with oculomotor apraxia: clinical-genetic characteristics and DNA-diagnostic].Semantic proximity Read ↗

Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.Semantic proximity Read ↗

A novel gain of function variant in NUAK2 causes oculomotor apraxia in a three-generation familySemantic proximity Read ↗

Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian SiblingsSemantic proximity Read ↗

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Clinical features of ataxia with oculoapraxia type 2 in ChinaSemantic proximity Read ↗

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