Zoheir Guesmia

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 investigates how the LMNA p.H222P mutation causes heart failure by impairing mitochondrial calcium uptake in human cardiac cells.

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.

The paper generates and characterizes the first mouse model with a dominant-negative glycine substitution in collagen VI alpha chains, showing key disease features for therapeutic research.

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

This study identifies Loxl2 as a therapeutic target for LMNA cardiomyopathy by showing its role in ECM remodeling in patient-derived cardiomyocytes and mouse models.