Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.

doi:10.1136/jnnp.2007.127233

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Article

Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.

Journal of neurology, neurosurgery, and psychiatry - 1 Feb 2008

Yoon G, Westmacott R, MacMillan L, Quercia N, Koutsou P, Georghiou A, Christodoulou K, Banwell B

Abstract excerpt

No abstract is available from the source.

Topics

Apraxias
Atrophy
Cerebellum
Child
Chromosome Deletion
Cognition Disorders
Consanguinity
DNA-Binding Proteins
Disability Evaluation
Dysarthria
Female
Homozygote
Humans
Neurologic Examination
Neuropsychological Tests
Nuclear Proteins
Oculomotor Nerve Diseases
Phenotype

Source

Open in PubMed

Identifiers

PMID: 18202221
DOI: 10.1136/jnnp.2007.127233

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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