| Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair A Lek, FJ Evesson, RB Sutton, KN North, ST Cooper Traffic 13 (2), 185-194, 2012 | 171 | 2012 |
| SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ND Shaw, H Brand, ZA Kupchinsky, H Bengani, L Plummer, TI Jones, ... Nature genetics 49 (2), 238-248, 2017 | 169 | 2017 |
| MicroRNA-486–dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy–associated symptoms MS Alexander, JC Casar, N Motohashi, NM Vieira, I Eisenberg, ... The Journal of clinical investigation 124 (6), 2651-2667, 2014 | 145 | 2014 |
| Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair A Lek, FJ Evesson, FA Lemckert, GMI Redpath, AK Lueders, L Turnbull, ... Journal of Neuroscience 33 (12), 5085-5094, 2013 | 124 | 2013 |
| Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch LB Waddell, FA Lemckert, XF Zheng, J Tran, FJ Evesson, JM Hawkes, ... Journal of Neuropathology & Experimental Neurology 70 (4), 302-313, 2011 | 120 | 2011 |
| Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins A Lek, M Lek, KN North, ST Cooper BMC evolutionary biology 10, 1-15, 2010 | 79 | 2010 |
| Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair GMI Redpath, N Woolger, AK Piper, FA Lemckert, A Lek, PA Greer, ... Molecular biology of the cell 25 (19), 3037-3048, 2014 | 78 | 2014 |
| Death after high-dose rAAV9 gene therapy in a patient with Duchenne’s muscular dystrophy A Lek, B Wong, A Keeler, M Blackwood, K Ma, S Huang, K Sylvia, ... New England Journal of Medicine 389 (13), 1203-1210, 2023 | 74 | 2023 |
| Emerging preclinical animal models for FSHD A Lek, F Rahimov, PL Jones, LM Kunkel Trends in molecular medicine 21 (5), 295-306, 2015 | 59 | 2015 |
| Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy A Lek, Y Zhang, KG Woodman, S Huang, AM DeSimone, J Cohen, V Ho, ... Science translational medicine 12 (536), eaay0271, 2020 | 58 | 2020 |
| Facioscapulohumeral muscular dystrophy AM DeSimone, A Pakula, A Lek, CP Emerson Jr Comprehensive Physiology 7 (4), 1229-1279, 2011 | 56 | 2011 |
| Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway FJ Evesson, RA Peat, A Lek, F Brilot, HP Lo, RC Dale, RG Parton, ... Journal of Biological Chemistry 285 (37), 28529-28539, 2010 | 51 | 2010 |
| Are protein complexes made of cores, modules and attachments? CNI Pang, JR Krycer, A Lek, MR Wilkins Proteomics 8 (3), 425-434, 2008 | 39 | 2008 |
| Therapeutic approaches in facioscapulohumeral muscular dystrophy J Cohen, A DeSimone, M Lek, A Lek Trends in molecular medicine 27 (2), 123-137, 2021 | 30 | 2021 |
| Meeting report: 2022 muscular dystrophy association summit on ‘safety and challenges in gene transfer therapy’ A Lek, E Atas, SE Hesterlee, BJ Byrne, CG Bönnemann Journal of Neuromuscular Diseases 10 (3), 327-336, 2023 | 19 | 2023 |
| Unexpected death of a Duchenne muscular dystrophy patient in an N-of-1 trial of rAAV9-delivered CRISPR-transactivator A Lek, B Wong, A Keeler, M Blackwood, K Ma, S Huang, K Sylvia, ... MedRxiv, 2023.05. 16.23289881, 2023 | 18 | 2023 |
| A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies PR Serafini, MJ Feyder, RM Hightower, D Garcia-Perez, NM Vieira, A Lek, ... JCI insight 3 (18), 2018 | 18 | 2018 |
| Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis A Pakula, A Lek, J Widrick, H Mitsuhashi, KM Bugda Gwilt, VA Gupta, ... Human Molecular Genetics 28 (2), 320-331, 2019 | 15 | 2019 |
| Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P N Woolger, A Bournazos, RA Sophocleous, FJ Evesson, A Lek, B Driemer, ... Journal of Biological Chemistry 292 (45), 18577-18591, 2017 | 8 | 2017 |
| Profilin1 is required for prevention of mitotic catastrophe in murine and human glomerular diseases X Tian, CE Pedigo, K Li, X Ma, P Bunda, J Pell, A Lek, J Gu, Y Zhang, ... The Journal of Clinical Investigation 133 (24), 2023 | 6 | 2023 |
