Christel Gentil

This study shows that axonopathy in DMD limits microdystrophin gene therapy efficacy by demonstrating that dystrophin is expressed in peripheral nerves and its absence causes nerve structural collapse and impaired nerve-muscle connectivity.

This study shows that GDF5 overexpression in DMD mdx mice improves muscle histology, reduces inflammation, and enhances microdystrophin gene therapy outcomes.

This study identifies GDF5 as a protective factor in ALS by restoring SMAD signaling and preserving motor unit integrity through gene delivery in a mouse model.

This study identifies CaVβ1 isoforms involved in neuromuscular junction formation and maintenance through developmental regulation and functional analysis.

This study shows that clathrin plaques and dynamin 2 anchor desmin intermediate filaments and regulate YAP signaling in skeletal muscle in response to mechanical cues.