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Methods in Molecular Biology (Clifton, N.J.)|September 2, 2018
Validation and Detection of Exon Skipping Boosters in DMD Patient Cell Models and mdx MouseFlorian Barthelemy, Dereck Wang, Stanley F Nelson, et al.Muscle & Nerve|August 22, 2020
A well-tolerated core needle muscle biopsy process suitable for children and adultsFlorian Barthelemy, Jeremy D Woods, Shirley Nieves-Rodriguez, et al.Journal of Cytology & Histology|June 23, 2020
Enhanced Methods for Needle Biopsy and Cryopreservation of Skeletal Muscle in Older AdultsCathy C Lee, Austin Hoang, David Segovia, et al.Scientific Reports|January 14, 2021
Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophinDavid P Bishop, Mika T Westerhausen, Florian Barthelemy, et al.Human Mutation|June 17, 2018
DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtypeRichard T Wang, Florian Barthelemy, Ann S Martin, et al.Research Square|April 17, 2026
Single nuclei/cell transcriptomics reveal DMD driven cell dynamics and mechanisms of fibroblast inflammatory tissue priming in human dystrophic muscleM Carrie Miceli, Kevin Chesmore, Deirdre Scripture-Adams, et al.American Journal of Human Genetics|March 3, 2015
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delayValerie A Arboleda, Hane Lee, Naghmeh Dorrani, et al.Pageof 1