Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia

OBJECTIVE: Variant ataxia‐telangiectasia is caused by mutations that allow some retained ataxia telangiectasia‐mutated (ATM) kinase activity. Here, we describe the clinical features of the largest established cohort of individuals with variant ataxia‐telangiectasia and explore genotype‐phenotype cor...

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Detalhes bibliográficos
Publicado no:Ann Neurol
Main Authors: Schon, Katherine, van Os, Nienke J.H., Oscroft, Nicholas, Baxendale, Helen, Scoffings, Daniel, Ray, Julian, Suri, Mohnish, Whitehouse, William P., Mehta, Puja R., Everett, Natasha, Bottolo, Leonardo, van de Warrenburg, Bart P., Byrd, Philip J., Weemaes, Corry, Willemsen, Michel A., Tischkowitz, Marc, Taylor, A. Malcolm, Hensiek, Anke E.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2019
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6590299/
https://ncbi.nlm.nih.gov/pubmed/30549301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.25394
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