Nathalie Bourg

A NEW DYSTROPHIN DEFICIENT RAT MODEL MIRRORING EXON SKIPPING IN PATIENTS WITH DMD EXON 45 DELETIONS

This paper describes a novel rat model with an exon 45 deletion in the Dmd gene, showing features of DMD and exon skipping, which may inform personalized therapies.

DAB2 as a biomarker and mechanistic link between lipid dysregulation and disease progression in LGMD R2

Targeting lysosomal damage is a new therapeutic perspective for Duchenne Muscular Dystrophy

This study identifies lysosomal damage as a novel mechanism in Duchenne Muscular Dystrophy and shows that combining trehalose with gene therapy improves outcomes.

BIN1 genetic risk factor for Alzheimer is sufficient to induce early structural tract alterations in entorhinal cortex-dentate gyrus pathway and related hippocampal multi-scale impairments

This paper shows that BIN1 overexpression in mice leads to early structural and functional impairments in hippocampal pathways associated with Alzheimer's disease, independent of A-beta changes.