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

OBJECTIVES/BACKGROUND: Ataxia with oculomotor apraxia defines a group of genetically distinct recessive ataxias including ataxia-telangectasia (A-T, ATM gene), ataxia with oculomotor apraxia type 1 (AOA1, APTX gene) and type 2 (AOA2, SETX gene). Although, a few unique clinical features differentiate...

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Bibliografiske detaljer
Main Authors: Nanetti, Lorenzo, Cavalieri, Simona, Pensato, Viviana, Erbetta, Alessandra, Pareyson, Davide, Panzeri, Marta, Zorzi, Giovanna, Antozzi, Carlo, Moroni, Isabella, Gellera, Cinzia, Brusco, Alfredo, Mariotti, Caterina
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2013
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3751478/
https://ncbi.nlm.nih.gov/pubmed/23941260
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-123
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