Angela Lek

Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular Dystrophy

Angela Lek, Brenda Wong, Allison M. Keeler et al. · New England Journal of Medicine · 2023 · 273 citations · Full text

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky et al. · Nature Genetics · 2017 · 160 citations · Full text

Rare Diseases, Smchd1 Mutations, Mendelian Disorder +9

MicroRNA-486–dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy–associated symptoms

Matthew S. Alexander, Juan Carlos Casar, Norio Motohashi et al. · Journal of Clinical Investigation · 2014 · 148 citations · Full text

Calpains, Cleaved Mini-Dysferlin_C72, and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair

Angela Lek, Frances J. Evesson, Frances A. Lemckert et al. · Journal of Neuroscience · 2013 · 131 citations · Full text

Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With Stretch

Leigh B. Waddell, Frances A. Lemckert, Xi Zheng et al. · Journal of Neuropathology & Experimental Neurology · 2011 · 107 citations · Full text

Mechanobiology, Annexin A1, Muscle Function +15