Annemieke M Aartsma-Rus

This study uses spatial transcriptomics to compare gene expression changes in brain regions of mdx and mdx4cv DMD mouse models, revealing distinct patterns linked to dystrophin isoform loss.

The paper develops four humanized DMD mouse models with specific human exon deletions to test exon skipping therapies for Duchenne muscular dystrophy.

This study uses spatial transcriptomics to evaluate exon-skipping therapies for DMD in the CNS, showing U7ex51 effectively restores full-length dystrophin isoforms in neurons.

This study compares the natural history of two DMD mouse models, BL10-mdx and D2-mdx, across two sites, finding distinct phenotypes and highlighting the importance of genetic background.

The paper identifies sequence and chemical features of ASOs that efficiently induce exon 44 skipping in DMD and defines design principles for therapeutic ASOs.

The paper estimates the proportion of genetic diagnoses in a pediatric cohort that are amenable to antisense oligonucleotide therapy, finding 4.9% eligible or likely eligible.

This paper introduces a novel DMD mouse model with non-uniform dystrophin expression and shows that partial dystrophin expression protects against muscle pathology.

The paper presents consensus guidelines for assessing pathogenic variants' eligibility for antisense oligonucleotide treatments, including classification criteria and considerations for different therapeutic approaches.

This study evaluates how exon skipping efficiency by antisense oligonucleotides in DMD is influenced by intron retention time and AON position within the exon.

The paper uses spatial transcriptomics in DMD mouse models to identify gene expression signatures linked to histopathological changes in skeletal muscle.

This study investigates the effects of nicotinamide riboside on muscle damage in mdx mice and finds no significant improvement in muscle pathology markers despite a slight increase in NAD+ levels in some models.