2 documents found, page 1 of 1
TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis
Guerreiro, Rita; Schymick, Jennifer C.; Crews, Cynthia; Singleton, Andrew; Hardy, John; Traynor, Bryan J.Background: TAR DNA binding protein, encoded by TARDBP, was shown to be a central component of ubiquitin-positive, tau-negative inclusions in frontotemporal lobar degeneration (FTLD-U) and amyotrophic lateral sclerosis (ALS). Recently, mutations in TARDBP have been linked to familial and sporadic ALS. Methodology/Principal Findings: To further examine the frequency of mutations in TARDBP in sporadic ALS, 279 AL...
Analysis of Nigerians with apparently sporadic Parkinson disease for mutations ...
Okubadejo, Njideka; Britton, Angela; Crews, Cynthia; Akinyemi, Rufus; Hardy, John; Singleton, Andrew; Brás, JoséSeveral genetic variations have been associated with Parkinson disease in different populations over the past few years. Although a considerable number of worldwide populations have been screened for these variants, results from Sub-Saharan populations are very scarce in the literature. In the present report we have screened a cohort of Parkinson disease patients (n = 57) and healthy controls (n = 51) from Nige...