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Article

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

Parkinsonism & related disorders - 1 Jun 2012

Ghrooda Sadik, Borys Andrew, Spriggs Elizabeth, Hegde Madhuri, Mhanni Aizeddin

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Identifiers

PMID: 22341623
DOI: 10.1016/j.parkreldis.2012.01.022

Genes

SETX

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Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SETX gene novel mutations in a non-French Canadian with ataxia-oculomotor apraxia type 2.PMID 22341623Read ↗

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

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

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

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

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

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

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

A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.Semantic proximity Read ↗

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

Ataxia with oculomotor apraxia type 2: novel mutations in six patients with juvenile age of onset and elevated serum alpha-fetoprotein.Semantic proximity Read ↗

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