Pierre Meunier

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 endosomal pathway dysfunction in DMD muscle cells and shows that Rab5 upregulation contributes to endosomal defects, which can be mitigated by Rab5 knock-down or dystrophin restoration.

The paper profiles the transcriptome of bone and cartilage in SMA patients and mouse models to identify molecular changes contributing to bone pathology.