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Article

Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2.

Clinical neurology and neurosurgery - 1 Jan 2015

Pera Joanna, Lechner Sarah, Biskup Saskia, Strach Magdalena, Grodzicki Tomasz, Slowik Agnieszka

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Identifiers

PMID: 25462094
DOI: 10.1016/j.clineuro.2014.10.024

Genes

SETX

Provenance

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Related research

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Research trail→

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Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2.PMID 25462094Read ↗

SETX gene novel mutations in a non-French Canadian with ataxia-oculomotor apraxia type 2.Semantic proximity Read ↗

A new SETX mutation producing AOA2 in two siblings.Semantic proximity Read ↗

Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.Semantic proximity Read ↗

Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families.Semantic proximity Read ↗

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.Semantic proximity Read ↗

Exploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis.Semantic proximity Read ↗

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.Semantic proximity Read ↗

Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families.Semantic proximity Read ↗

Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients.Semantic proximity Read ↗

Some pathogenic SETX variants are partially conserved during evolution.Semantic proximity Read ↗

New autosomal recessive cerebellar ataxias with oculomotor apraxia.Semantic proximity Read ↗

A novel heterozygous SETX mutation in a patient presenting with chorea and motor neuron disease.Semantic proximity Read ↗

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