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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Dades bibliogràfiques
Publicat a:Ann Neurol
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley & Sons, Inc. 2019
Matèries:
Research Articles
Accés en línia: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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