Angela Lek
Muscular Dystrophy Association(US)
Publications by Year
Research Areas
Muscle Physiology and Disorders, CRISPR and Genetic Engineering, Neurogenetic and Muscular Disorders Research, RNA Research and Splicing, Virus-based gene therapy research
Most-Cited Works
- → Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular Dystrophy(2023)283 cited
- → Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair(2011)177 cited
- → SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome(2017)160 cited
- → MicroRNA-486–dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy–associated symptoms(2014)150 cited
- → Calpains, Cleaved Mini-DysferlinC72, and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair(2013)132 cited
- → Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With Stretch(2011)108 cited
- → Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair(2014)97 cited
- → Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy(2020)79 cited
- → Reduced Plasma Membrane Expression of Dysferlin Mutants Is Attributed to Accelerated Endocytosis via a Syntaxin-4-associated Pathway(2010)66 cited
- → Facioscapulohumeral Muscular Dystrophy(2017)64 cited