Lawlor MW - Search Results

1

A Cross-Sectional Study of Nemaline Myopathy.

Amburgey K, Acker M, Saeed S, Amin R, Beggs AH, Bönnemann CG, Brudno M, Constantinescu A, Dastgir J, Diallo M, Genetti CA, Glueck M, Hewson S, Hum C, Jain MS, Lawlor MW, Meyer OH, Nelson L, Sultanum N, Syed F, Tran T, Wang CH, Dowling JJ. Amburgey K, et al. Among authors: lawlor mw. Neurology. 2021 Mar 9;96(10):e1425-e1436. doi: 10.1212/WNL.0000000000011458. Epub 2021 Jan 4. Neurology. 2021. PMID: 33397769 Free PMC article.

2

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.

Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH. Lawlor MW, et al. Hum Mutat. 2010 Feb;31(2):176-83. doi: 10.1002/humu.21157. Hum Mutat. 2010. PMID: 19953533 Free PMC article.

3

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. Lawlor MW, et al. Am J Pathol. 2011 Feb;178(2):784-93. doi: 10.1016/j.ajpath.2010.10.035. Am J Pathol. 2011. PMID: 21281811 Free PMC article.

4

Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.

Ottenheijm CA, Lawlor MW, Stienen GJ, Granzier H, Beggs AH. Ottenheijm CA, et al. Among authors: lawlor mw. Hum Mol Genet. 2011 May 15;20(10):2015-25. doi: 10.1093/hmg/ddr084. Epub 2011 Feb 28. Hum Mol Genet. 2011. PMID: 21357678 Free PMC article.

5

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.

Lawlor MW, Ottenheijm CA, Lehtokari VL, Cho K, Pelin K, Wallgren-Pettersson C, Granzier H, Beggs AH. Lawlor MW, et al. Skelet Muscle. 2011 Jun 20;1(1):23. doi: 10.1186/2044-5040-1-23. Skelet Muscle. 2011. PMID: 21798101 Free PMC article.

6

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. Pierson CR, et al. Among authors: lawlor mw. Hum Mol Genet. 2012 Feb 15;21(4):811-25. doi: 10.1093/hmg/ddr512. Epub 2011 Nov 7. Hum Mol Genet. 2012. PMID: 22068590 Free PMC article.

7

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. Lawlor MW, et al. Am J Pathol. 2012 Sep;181(3):961-8. doi: 10.1016/j.ajpath.2012.05.016. Epub 2012 Jul 27. Am J Pathol. 2012. PMID: 22841819 Free PMC article.

8

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. Lawlor MW, et al. Hum Mol Genet. 2013 Apr 15;22(8):1525-38. doi: 10.1093/hmg/ddt003. Epub 2013 Jan 9. Hum Mol Genet. 2013. PMID: 23307925 Free PMC article.

9

Selenoprotein N deficiency in mice is associated with abnormal lung development.

Moghadaszadeh B, Rider BE, Lawlor MW, Childers MK, Grange RW, Gupta K, Boukedes SS, Owen CA, Beggs AH. Moghadaszadeh B, et al. Among authors: lawlor mw. FASEB J. 2013 Apr;27(4):1585-99. doi: 10.1096/fj.12-212688. Epub 2013 Jan 16. FASEB J. 2013. PMID: 23325319 Free PMC article.

10

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.

de Winter JM, Buck D, Hidalgo C, Jasper JR, Malik FI, Clarke NF, Stienen GJ, Lawlor MW, Beggs AH, Ottenheijm CA, Granzier H. de Winter JM, et al. Among authors: lawlor mw. J Med Genet. 2013 Jun;50(6):383-92. doi: 10.1136/jmedgenet-2012-101470. Epub 2013 Apr 9. J Med Genet. 2013. PMID: 23572184 Free PMC article.

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