Article
Mutational analysis of TARDBP in Parkinson's disease.
Neurobiology of aging - 1 May 2013
van Blitterswijk Marka, van Es Michael A, Verbaan Dagmar, van Hilten Jacobus J, Scheffer Hans, van de Warrenburg Bart P, Veldink Jan H, van den Berg Leonard H
Abstract excerpt
Mutations in TAR DNA-binding protein (TARDBP) are associated with heterogenic phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, and Parkinson's disease. In this study, we investigated the presence of TARDBP mutations in a cohort of 429 Dutch patients with Parkinson's disease. Though we detected 1 silent mutation, p.S332S, no missense mutations were present in our cohort. Our findings,...
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