Angiogenin mutations in Hungarian patients with amyotrophic lateral sclerosis: Clinical, genetic, computational, and functional analyses

ConclusionsIn the Hungarian ALS population, the observed frequency ofANG mutations was 2.9%, which is higher than previously reported for sporadic cohorts. The evidence from computational and functional analyses support the deleterious effect of the novel R33W variant detected in this study.

https://onlinelibrary.wiley.com/doi/abs/10.1002/brb3.1293?af=R

Source: Brain and Behavior - April 24, 2019 Category: Neurology Authors: Korn élia Tripolszki, Judit Danis, Aditya K. Padhi, James Gomes, Renáta Bozó, Zsófia F. Nagy, Dóra Nagy, Péter Klivényi, József I. Engelhardt, Márta Széll Tags: ORIGINAL RESEARCH Source Type: research