Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

IMPORTANCE: Cerebellar ataxias are a diverse collection of neurologic disorders with causes ranging from common acquired etiologies to rare genetic conditions. Numerous genetic disorders have been associated with chronic progressive ataxia and this consequently presents a diagnostic challenge for th...

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Detalhes bibliográficos
Publicado no:JAMA Neurol
Main Authors: Fogel, Brent L., Lee, Hane, Deignan, Joshua L., Strom, Samuel P., Kantarci, Sibel, Wang, Xizhe, Quintero-Rivera, Fabiola, Vilain, Eric, Grody, Wayne W., Perlman, Susan, Geschwind, Daniel H., Nelson, Stanley F.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4324730/
https://ncbi.nlm.nih.gov/pubmed/25133958
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2014.1944
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