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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. Ceyhan-Birsoy O, et al. Among authors: lawlor mw. Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23. Neurology. 2013. PMID: 23975875 Free PMC article.
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. Childers MK, et al. Among authors: lawlor mw. Sci Transl Med. 2014 Jan 22;6(220):220ra10. doi: 10.1126/scitranslmed.3007523. Sci Transl Med. 2014. PMID: 24452262 Free PMC article.
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. Lawlor MW, et al. Am J Pathol. 2014 Jun;184(6):1831-42. doi: 10.1016/j.ajpath.2014.03.003. Epub 2014 Apr 13. Am J Pathol. 2014. PMID: 24726641 Free PMC article.
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. Kutchukian C, et al. Among authors: lawlor mw. Proc Natl Acad Sci U S A. 2016 Dec 13;113(50):14432-14437. doi: 10.1073/pnas.1604099113. Epub 2016 Nov 28. Proc Natl Acad Sci U S A. 2016. PMID: 27911767 Free PMC article.
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. Mack DL, et al. Among authors: lawlor mw. Mol Ther. 2017 Apr 5;25(4):839-854. doi: 10.1016/j.ymthe.2017.02.004. Epub 2017 Feb 22. Mol Ther. 2017. PMID: 28237839 Free PMC article.
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. Elverman M, et al. Among authors: lawlor mw. Muscle Nerve. 2017 Nov;56(5):943-953. doi: 10.1002/mus.25658. Epub 2017 May 22. Muscle Nerve. 2017. PMID: 28370029 Free PMC article.
Sdha+/- Rats Display Minimal Muscle Pathology Without Significant Behavioral or Biochemical Abnormalities.
Siebers EM, Choi MJ, Tinklenberg JA, Beatka MJ, Ayres S, Meng H, Helbling DC, Takizawa A, Bennett B, Garces AM, Dias Duarte Machado LG, Dimmock D, Dwinell MR, Geurts AM, Lawlor MW. Siebers EM, et al. Among authors: lawlor mw. J Neuropathol Exp Neurol. 2018 Aug 1;77(8):665-672. doi: 10.1093/jnen/nly042. J Neuropathol Exp Neurol. 2018. PMID: 29850869 Free PMC article.
111 results