1 | X-linked myotubular myopathy. (Lawlor MW, Dowling JJ) Neuromuscul Disord 2021 Oct;31(10):1004-1012 29 Citations |
1 | rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy. (Ross JA, Tasfaout H, Levy Y, Morgan J, Cowling BS, Laporte J, Zanoteli E, Romero NB, Lowe DA, Jungbluth H, Lawlor MW, Mack DL, Ochala J) Acta Neuropathol Commun 2020 Oct 19;8(1):167 10 Citations |
1 | Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice. (Danièle N, Moal C, Julien L, Marinello M, Jamet T, Martin S, Vignaud A, Lawlor MW, Buj-Bello A) J Neuropathol Exp Neurol 2018 Apr 01;77(4):282-295 14 Citations |
1 | Long-term effects of systemic gene therapy in a canine model of myotubular myopathy. (Elverman M, Goddard MA, Mack D, Snyder JM, Lawlor MW, Meng H, Beggs AH, Buj-Bello A, Poulard K, Marsh AP, Grange RW, Kelly VE, Childers MK) Muscle Nerve 2017 Nov;56(5):943-953 47 Citations |
1 | Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs. (Mack DL, Poulard K, Goddard MA, Latournerie V, Snyder JM, Grange RW, Elverman MR, Denard J, Veron P, Buscara L, Le Bec C, Hogrel JY, Brezovec AG, Meng H, Yang L, Liu F, O'Callaghan M, Gopal N, Kelly VE, Smith BK, Strande JL, Mavilio F, Beggs AH, Mingozzi F, Lawlor MW, Buj-Bello A, Childers MK) Mol Ther 2017 Apr 05;25(4):839-854 80 Citations |
1 | Phosphatidylinositol 3-kinase inhibition restores Ca2+ release defects and prolongs survival in myotubularin-deficient mice. (Kutchukian C, Lo Scrudato M, Tourneur Y, Poulard K, Vignaud A, Berthier C, Allard B, Lawlor MW, Buj-Bello A, Jacquemond V) Proc Natl Acad Sci U S A 2016 Dec 13;113(50):14432-14437 28 Citations |
3 | Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice. (Lawlor MW, Viola MG, Meng H, Edelstein RV, Liu F, Yan K, Luna EJ, Lerch-Gaggl A, Hoffmann RG, Pierson CR, Buj-Bello A, Lachey JL, Pearsall S, Yang L, Hillard CJ, Beggs AH) Am J Pathol 2014 Jun;184(6):1831-42 27 Citations |
1 | Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. (Childers MK, Joubert R, Poulard K, Moal C, Grange RW, Doering JA, Lawlor MW, Rider BE, Jamet T, Danièle N, Martin S, Rivière C, Soker T, Hammer C, Van Wittenberghe L, Lockard M, Guan X, Goddard M, Mitchell E, Barber J, Williams JK, Mack DL, Furth ME, Vignaud A, Masurier C, Mavilio F, Moullier P, Beggs AH, Buj-Bello A) Sci Transl Med 2014 Jan 22;6(220):220ra10 128 Citations |
1 | Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. (Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH) Neurology 2013 Oct 01;81(14):1205-14 160 Citations |
1 | Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. (Lawlor MW, Armstrong D, Viola MG, Widrick JJ, Meng H, Grange RW, Childers MK, Hsu CP, O'Callaghan M, Pierson CR, Buj-Bello A, Beggs AH) Hum Mol Genet 2013 Apr 15;22(8):1525-38 65 Citations |
1 | Large duplication in MTM1 associated with myotubular myopathy. (Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH, Dowling JJ) Neuromuscul Disord 2013 Mar;23(3):214-8 8 Citations |
1 | Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. (Lawlor MW, Alexander MS, Viola MG, Meng H, Joubert R, Gupta V, Motohashi N, Manfready RA, Hsu CP, Huang P, Buj-Bello A, Kunkel LM, Beggs AH, Gussoni E) Am J Pathol 2012 Sep;181(3):961-8 34 Citations |
1 | Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. (Pierson CR, Dulin-Smith AN, Durban AN, Marshall ML, Marshall JT, Snyder AD, Naiyer N, Gladman JT, Chandler DS, Lawlor MW, Buj-Bello A, Dowling JJ, Beggs AH) Hum Mol Genet 2012 Feb 15;21(4):811-25 47 Citations |
1 | Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice. (Lawlor MW, Read BP, Edelstein R, Yang N, Pierson CR, Stein MJ, Wermer-Colan A, Buj-Bello A, Lachey JL, Seehra JS, Beggs AH) Am J Pathol 2011 Feb;178(2):784-93 52 Citations |
1 | [Myotubular myopathy. Case report and review of the literature]. (Kovács SK, Korcsik J, Szabó H, Bódi I, Katona M, Bereg E, Endreffy E, Túri S, Hortobágyi T, Sztriha L) Orv Hetil 2007 Sep 16;148(37):1757-62 |