Diaphragm muscle fiber weakness and ubiquitin–proteasome activation in critically ill patients PE Hooijman, A Beishuizen, CC Witt, MC de Waard, ARJ Girbes, ... American journal of respiratory and critical care medicine 191 (10), 1126-1138, 2015 | 217 | 2015 |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy O Ceyhan-Birsoy, PB Agrawal, C Hidalgo, K Schmitz-Abe, ET DeChene, ... Neurology 81 (14), 1205-1214, 2013 | 215 | 2013 |
Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy MK Childers, R Joubert, K Poulard, C Moal, RW Grange, JA Doering, ... Science translational medicine 6 (220), 220ra10-220ra10, 2014 | 189 | 2014 |
Activation of paternally expressed genes and perinatal death caused by deletion of the Gtl2 gene Y Zhou, P Cheunsuchon, Y Nakayama, MW Lawlor, Y Zhong, KA Rice, ... Development 137 (16), 2643-2652, 2010 | 162 | 2010 |
Dystrophin-deficient cardiomyocytes derived from human urine: new biologic reagents for drug discovery X Guan, DL Mack, CM Moreno, JL Strande, J Mathieu, Y Shi, CD Markert, ... Stem cell research 12 (2), 467-480, 2014 | 137 | 2014 |
Prolonged duration local anesthesia with minimal toxicity H Epstein-Barash, I Shichor, AH Kwon, S Hall, MW Lawlor, R Langer, ... Proceedings of the National Academy of Sciences 106 (17), 7125-7130, 2009 | 137 | 2009 |
Oxygen gas–filled microparticles provide intravenous oxygen delivery JN Kheir, LA Scharp, MA Borden, EJ Swanson, A Loxley, JH Reese, ... Science translational medicine 4 (140), 140ra88-140ra88, 2012 | 135 | 2012 |
CD82 is a marker for prospective isolation of human muscle satellite cells and is linked to muscular dystrophies MS Alexander, A Rozkalne, A Colletta, JM Spinazzola, S Johnson, ... Cell stem cell 19 (6), 800-807, 2016 | 111 | 2016 |
Systemic AAV8-mediated gene therapy drives whole-body correction of myotubular myopathy in dogs DL Mack, K Poulard, MA Goddard, V Latournerie, JM Snyder, RW Grange, ... Molecular Therapy 25 (4), 839-854, 2017 | 107 | 2017 |
Tissue triage and freezing for models of skeletal muscle disease H Meng, PML Janssen, RW Grange, L Yang, AH Beggs, LC Swanson, ... JoVE (Journal of Visualized Experiments), e51586, 2014 | 97 | 2014 |
Elasticity and safety of alkoxyethyl cyanoacrylate tissue adhesives B Mizrahi, CF Stefanescu, C Yang, MW Lawlor, D Ko, R Langer, ... Acta biomaterialia 7 (8), 3150-3157, 2011 | 97 | 2011 |
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy MW Lawlor, D Armstrong, MG Viola, JJ Widrick, H Meng, RW Grange, ... Human molecular genetics 22 (8), 1525-1538, 2013 | 92 | 2013 |
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion MW Lawlor, ET DeChene, E Roumm, AS Geggel, B Moghadaszadeh, ... Human mutation 31 (2), 176-183, 2010 | 90 | 2010 |
BAG3 myofibrillar myopathy presenting with cardiomyopathy CG Konersman, BJ Bordini, G Scharer, MW Lawlor, S Zangwill, ... Neuromuscular Disorders 25 (5), 418-422, 2015 | 78 | 2015 |
Triadopathies: an emerging class of skeletal muscle diseases JJ Dowling, MW Lawlor, RT Dirksen Neurotherapeutics 11 (4), 773-785, 2014 | 77 | 2014 |
Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy CAC Ottenheijm, MW Lawlor, GJM Stienen, H Granzier, AH Beggs Human molecular genetics 20 (10), 2015-2025, 2011 | 73 | 2011 |
Thermoresponsive nanogels for prolonged duration local anesthesia T Hoare, S Young, MW Lawlor, DS Kohane Acta biomaterialia 8 (10), 3596-3605, 2012 | 71 | 2012 |
Diaphragm atrophy and weakness in the absence of mitochondrial dysfunction in the critically ill M Van den Berg, PE Hooijman, A Beishuizen, MC De Waard, MA Paul, ... American journal of respiratory and critical care medicine 196 (12), 1544-1558, 2017 | 70 | 2017 |
Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy CAC Ottenheijm, D Buck, JM de Winter, C Ferrara, N Piroddi, C Tesi, ... Brain 136 (6), 1718-1731, 2013 | 67 | 2013 |
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype CR Pierson, AN Dulin-Smith, AN Durban, ML Marshall, JT Marshall, ... Human molecular genetics 21 (4), 811-825, 2012 | 67 | 2012 |