An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

• Significance of incidental copy number variants in the Duchenne muscular dystrophy gene

  2025 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  1

  citations
• In Vivo Phage Display for the Identification of Muscle Homing Peptides to Improve the Delivery of Phosphorodiamidate Morpholino Oligomers for Duchenne Muscular Dystrophy Therapy

  2025 Nucleic Acid Therapeutics article Biochemistry, Genetics and Molecular Biology RNA Interference and Gene Delivery Open access

  0

  citations
• Using muscle homing peptide CyPep10 to deliver phosphorodiamidate morpholino oligomers in the mdx mouse

  2025 Molecular Therapy — Nucleic Acids article Biochemistry, Genetics and Molecular Biology RNA Interference and Gene Delivery Open access

  1

  citations
• CRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies

  2022 WIREs Mechanisms of Disease article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 1 patent

  23

  citations
• Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD)

  2021 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  12

  citations
• Low human dystrophin levels prevent cardiac electrophysiological and structural remodelling in a Duchenne mouse model

  2021 Scientific Reports article Medicine Cardiac electrophysiology and arrhythmias Open access

  15

  citations
• Low dystrophin variability between muscles and stable expression over time in Becker muscular dystrophy using capillary Western immunoassay

  2021 Scientific Reports article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  24

  citations
• Duchenne muscular dystrophy

  2021 Nature Reviews Disease Primers review Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 15 patents

  1,314

  citations
• Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy

  2021 Scientific Reports article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 1 patent

  19

  citations
• Developments in reading frame restoring therapy approaches for Duchenne muscular dystrophy

  2020 Expert Opinion on Biological Therapy article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  25

  citations

10 results