Beggs AH - Search Results

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. Lawlor MW, et al. Among authors: beggs ah. 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.

2

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.

Beggs AH, Böhm J, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hitte C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, Shelton GD. Beggs AH, et al. Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14697-702. doi: 10.1073/pnas.1003677107. Epub 2010 Aug 3. Proc Natl Acad Sci U S A. 2010. PMID: 20682747 Free PMC article.

3

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: beggs ah. 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.

4

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. Among authors: beggs ah. Skelet Muscle. 2011 Jun 20;1(1):23. doi: 10.1186/2044-5040-1-23. Skelet Muscle. 2011. PMID: 21798101 Free PMC article.

5

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: beggs ah. 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.

6

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.

Dowling JJ, Joubert R, Low SE, Durban AN, Messaddeq N, Li X, Dulin-Smith AN, Snyder AD, Marshall ML, Marshall JT, Beggs AH, Buj-Bello A, Pierson CR. Dowling JJ, et al. Among authors: beggs ah. Dis Model Mech. 2012 Nov;5(6):852-9. doi: 10.1242/dmm.009746. Epub 2012 May 24. Dis Model Mech. 2012. PMID: 22645112 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. Among authors: beggs ah. 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

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. Amburgey K, et al. Among authors: beggs ah. Neuromuscul Disord. 2013 Mar;23(3):214-8. doi: 10.1016/j.nmd.2012.11.010. Epub 2012 Dec 28. Neuromuscul Disord. 2013. PMID: 23273872 Free PMC article.

9

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. Among authors: beggs ah. 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.

10

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: beggs ah. 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.

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