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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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Podrobná bibliografie
Vydáno v:Mov Disord Clin Pract
Hlavní autoři: Brugger, Florian, Schüpbach, Michael, Koenig, Michel, Müri, René, Bohlhalter, Stephan, Kaelin‐Lang, Alain, Kamm, Christian P., Kägi, Georg
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2014
Témata:
On-line přístup: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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