Valérie Triassi

This study uses whole-exome sequencing to identify rare genetic variants associated with sleepwalking in two cohorts, finding 99 genes enriched in patients and 31 shared genes with rare variants.

This paper identifies bi-allelic AMPD2 variants as a cause of Leigh syndrome, showing they lead to complex V assembly defects and cytosolic purine imbalance.

The paper shows that TDP-43 pathology causes a cryptic exon in G3BP1 to be included in neurons, leading to a protein that disrupts stress granule dynamics in ALS/FTD.