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Items: 1 to 20 of 118

1.

Muscle function in a canine model of X-linked myotubular myopathy.

Grange RW, Doering J, Mitchell E, Holder MN, Guan X, Goddard M, Tegeler C, Beggs AH, Childers MK.

Muscle Nerve. 2012 Oct;46(4):588-91. doi: 10.1002/mus.23463.

2.

A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy.

Hammans SR, Robinson DO, Moutou C, Kennedy CR, Dennis NR, Hughes PJ, Ellison DW.

Neuromuscul Disord. 2000 Feb;10(2):133-7.

PMID:
10714588
3.

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. doi: 10.1093/hmg/ddt003. Epub 2013 Jan 9.

4.

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 5;25(4):839-854. doi: 10.1016/j.ymthe.2017.02.004. Epub 2017 Feb 22.

PMID:
28237839
5.

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.

Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14697-702. doi: 10.1073/pnas.1003677107. Epub 2010 Aug 3.

6.

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.

Buj-Bello A, Fougerousse F, Schwab Y, Messaddeq N, Spehner D, Pierson CR, Durand M, Kretz C, Danos O, Douar AM, Beggs AH, Schultz P, Montus M, Denèfle P, Mandel JL.

Hum Mol Genet. 2008 Jul 15;17(14):2132-43. doi: 10.1093/hmg/ddn112. Epub 2008 Apr 22.

7.

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. doi: 10.1126/scitranslmed.3007523.

8.

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. doi: 10.1093/hmg/ddr512. Epub 2011 Nov 7.

9.

Validity of a Neurological Scoring System for Canine X-Linked Myotubular Myopathy.

Snyder JM, Meisner A, Mack D, Goddard M, Coulter IT, Grange R, Childers MK.

Hum Gene Ther Clin Dev. 2015 Jun;26(2):131-7. doi: 10.1089/humc.2015.049.

10.

Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations.

Sutton IJ, Winer JB, Norman AN, Liechti-Gallati S, MacDonald F.

Neurology. 2001 Sep 11;57(5):900-2.

PMID:
11552027
11.

Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.

Gupta VA, Hnia K, Smith LL, Gundry SR, McIntire JE, Shimazu J, Bass JR, Talbot EA, Amoasii L, Goldman NE, Laporte J, Beggs AH.

PLoS Genet. 2013 Jun;9(6):e1003583. doi: 10.1371/journal.pgen.1003583. Epub 2013 Jun 20.

12.

X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation.

Jeon JH, Namgung R, Park MS, Park KI, Lee C, Lee JS, Kim SH.

Yonsei Med J. 2011 May;52(3):547-50. doi: 10.3349/ymj.2011.52.3.547.

13.

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.

Buj-Bello A, Biancalana V, Moutou C, Laporte J, Mandel JL.

Hum Mutat. 1999;14(4):320-5.

PMID:
10502779
14.

Normal innervation and differentiation of X-linked myotubular myopathy muscle cells in a nerve-muscle coculture system.

Dorchies OM, Laporte J, Wagner S, Hindelang C, Warter JM, Mandel JL, Poindron P.

Neuromuscul Disord. 2001 Nov;11(8):736-46.

PMID:
11595516
15.

Diagnosis of X-linked myotubular myopathy by detection of myotubularin.

Laporte J, Kress W, Mandel JL.

Ann Neurol. 2001 Jul;50(1):42-6.

PMID:
11456308
16.

Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle.

Joubert R, Vignaud A, Le M, Moal C, Messaddeq N, Buj-Bello A.

Hum Mol Genet. 2013 May 1;22(9):1856-66. doi: 10.1093/hmg/ddt038. Epub 2013 Feb 5.

PMID:
23390130
17.

MTM1 mutations in X-linked myotubular myopathy.

Laporte J, Biancalana V, Tanner SM, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel JL.

Hum Mutat. 2000;15(5):393-409. Review.

PMID:
10790201
18.

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.

Dowling JJ, Vreede AP, Low SE, Gibbs EM, Kuwada JY, Bonnemann CG, Feldman EL.

PLoS Genet. 2009 Feb;5(2):e1000372. doi: 10.1371/journal.pgen.1000372. Epub 2009 Feb 6.

19.

Clinical phenotype of X-linked myotubular myopathy in Labrador Retriever puppies.

Snead EC, Taylor SM, van der Kooij M, Cosford K, Beggs AH, Shelton GD.

J Vet Intern Med. 2015 Jan;29(1):254-60. doi: 10.1111/jvim.12513. Epub 2015 Jan 8.

20.

X-linked myotubular myopathy: report of a case with novel mutation.

Hortobágyi T, Szabó H, Kovács KS, Bódi I, Bereg E, Katona M, Biancalana V, Túri S, Sztriha L.

J Child Neurol. 2007 Apr;22(4):447-51.

PMID:
17621527

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