Mario Ezquerra

TL;DR: Coding or splicing FUS mutations are not a frequent cause of ET in the Spanish population, and leukocyte mRNA analysis showed no changes in FUS expression.

TL;DR: The aim was to identify novel LRRK2 mutations in late‐onset Parkinson's disease families as well as to establish a procedure to identify these mutations and to characterize theirigenicity.

TL;DR: The ACT-AA overrepresentation in PD and control subjects ≤50 years old suggests that this polymorphism could be associated with life-threatening conditions other than PD.

TL;DR: The findings indicate that PRKN mutations are associated with large global gene expression changes as observed in fibroblasts from PRKN-PD patients and support the view of PD as a systemic disease affecting also non-neural peripheral tissues such as the skin.