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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Ann Neurol
मुख्य लेखकों: 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.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: John Wiley & Sons, Inc. 2019
विषय:
Research Articles
ऑनलाइन पहुंच: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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