Chantal Sellier

The paper identifies a protective variant CREB3R119G that reduces ALS risk and progression by modulating CREB3 activity in vulnerable neurons.

This study identifies FUS's role in muscle differentiation and structure through phase separation-mediated recruitment of ETV5 and MEF2, showing its dysfunction in FUS-ALS.

The paper identifies NUP50 gene variants and reduced expression as risk factors for ALS through transcriptome-wide association and functional studies.

The paper identifies de novo frameshift variants in NOVA2 causing a severe neurodevelopmental disorder with intellectual disability and autistic features, and shows altered RNA splicing and functional deficits.