Hortense de Calbiac

This study identifies rare RYR3 variants causing recurrent rhabdomyolysis by impairing autophagy and mitochondrial function, highlighting RyR3's role in muscle stress adaptation.

This study shows that abnormal splicing of SORBS1 exon 25 in DM1 contributes to neuromuscular junction formation and stability issues in skeletal muscle.

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