Isabelle Richard

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

Identification of bazedoxifene for the treatment of LGMD R2 by high throughput screening.

This study identifies bazedoxifene as a potential treatment for LGMD R2 through high-throughput screening of drugs targeting dysferlin aggregation.

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.

CRISPR-Cas9 mediated endogenous utrophin upregulation improves Duchenne Muscular Dystrophy

This study uses CRISPR-Cas9 to disrupt miR binding sites and upregulate utrophin in DMD models, showing functional improvements and therapeutic potential.

Objective evaluation of clinical actionability for genes involved in myopathies: 63 genes with a medical value for patient care

The paper evaluates the clinical actionability of 63 myopathy-related genes using ClinGen criteria, finding that only 8 of the top 36 genes had prior ClinGen scores.

Cholesterol metabolism is a potential therapeutic target in Duchenne Muscular Dystrophy

This study identifies dysregulated miRNAs in DMD patients and mice, linking cholesterol metabolism and the mevalonate pathway to disease progression, with Simvastatin treatment showing therapeutic potential.