Mariely DeJesus-Hernandez

TL;DR: It is found that repeat expansion in C9ORF72 is a major cause of both FTD and ALS, suggesting multiple disease mechanisms.

TL;DR: The specificity of C9RANT for c9FTD/ALS is a potential biomarker for this most common cause of FTD and ALS and have significant implications for treatment strategies directed at RAN-translated peptides and their aggregation and the RNA structures necessary for their production.

TL;DR: It is suggested that HDLS may result from partial loss of CSF1R function, and an important role for microglial dysfunction in HDLS pathogenesis is suggested.

TL;DR: It is suggested that imaging has the potential to be useful to help differentiate C9ORF72 from these other groups at the single-subject level, and similar degrees of heterogeneity within all disease groups.

TL;DR: It is proposed that aggregation-prone RNA-binding proteins might contribute very broadly to ALS pathogenesis and the genes identified in the yeast functional screen, coupled with prion-like domain prediction analysis, now provide a powerful resource to facilitate ALS disease gene discovery.