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The Clinical Spectrum of Ataxia with Oculomotor Apraxia Type 2

Ataxia with oculomotor apraxia type 2 (AOA2) is an inherited disorder caused by mutations within both alleles of the senataxin gene. First symptoms are usually recognized before the age of 30. Unlike several other autosomal recessive cerebellar ataxia syndromes, levels of alpha‐fetoprotein are nearl...

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Detalhes bibliográficos
Publicado no:Mov Disord Clin Pract
Main Authors: Brugger, Florian, Schüpbach, Michael, Koenig, Michel, Müri, René, Bohlhalter, Stephan, Kaelin‐Lang, Alain, Kamm, Christian P., Kägi, Georg
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6183195/
https://ncbi.nlm.nih.gov/pubmed/30363866
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.12021
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