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Results: 1 to 20 of 104

1.

Extensive morphological and immunohistochemical characterization in myotubular myopathy.

Shichiji M, Biancalana V, Fardeau M, Hogrel JY, Osawa M, Laporte J, Romero NB.

Brain Behav. 2013 Jul;3(4):476-86. doi: 10.1002/brb3.147. Epub 2013 Jun 19.

PMID:
24381816
[PubMed]
Free PMC Article
2.

Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations.

Lee EH, Yum MS, Park SJ, Lee BH, Kim GH, Yoo HW, Ko TS.

J Clin Neurol. 2013 Jan;9(1):57-60. doi: 10.3988/jcn.2013.9.1.57. Epub 2013 Jan 3.

PMID:
23346162
[PubMed]
Free PMC Article
3.

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.

PMID:
19197364
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.

Bevilacqua JA, Bitoun M, Biancalana V, Oldfors A, Stoltenburg G, Claeys KG, Lacène E, Brochier G, Manéré L, Laforêt P, Eymard B, Guicheney P, Fardeau M, Romero NB.

Acta Neuropathol. 2009 Mar;117(3):283-91. doi: 10.1007/s00401-008-0472-1. Epub 2008 Dec 16.

PMID:
19084976
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
Free Article
6.

X-linked recessive myotubular myopathy with MTM1 mutations.

Han YM, Kwon KA, Lee YJ, Nam SO, Park KH, Byun SY, Kim GH, Yoo HW.

Korean J Pediatr. 2013 Mar;56(3):139-42. doi: 10.3345/kjp.2013.56.3.139. Epub 2013 Mar 18.

PMID:
23559977
[PubMed]
Free PMC Article
7.

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.

PMID:
18434328
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
22068590
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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.

PMID:
20682747
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations.

Tosch V, Vasli N, Kretz C, Nicot AS, Gasnier C, Dondaine N, Oriot D, Barth M, Puissant H, Romero NB, Bönnemann CG, Heller B, Duval G, Biancalana V, Laporte J.

Neuromuscul Disord. 2010 Jun;20(6):375-81. doi: 10.1016/j.nmd.2010.03.015.

PMID:
20434914
[PubMed - indexed for MEDLINE]
11.

X-linked myotubular and centronuclear myopathies.

Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH.

J Neuropathol Exp Neurol. 2005 Jul;64(7):555-64. Review.

PMID:
16042307
[PubMed - indexed for MEDLINE]
12.

Centronuclear (myotubular) myopathy.

Jungbluth H, Wallgren-Pettersson C, Laporte J.

Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26. Review.

PMID:
18817572
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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
[PubMed - indexed for MEDLINE]
14.

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.

Al-Qusairi L, Weiss N, Toussaint A, Berbey C, Messaddeq N, Kretz C, Sanoudou D, Beggs AH, Allard B, Mandel JL, Laporte J, Jacquemond V, Buj-Bello A.

Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18763-8. doi: 10.1073/pnas.0900705106. Epub 2009 Oct 21.

PMID:
19846786
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Gene expression analyses in X-linked myotubular myopathy.

Noguchi S, Fujita M, Murayama K, Kurokawa R, Nishino I.

Neurology. 2005 Sep 13;65(5):732-7.

PMID:
16157907
[PubMed - indexed for MEDLINE]
16.

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice.

Buj-Bello A, Laugel V, Messaddeq N, Zahreddine H, Laporte J, Pellissier JF, Mandel JL.

Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):15060-5. Epub 2002 Oct 21.

PMID:
12391329
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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.

PMID:
23818870
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy.

Gurgel-Giannetti J, Zanoteli E, de Castro Concentino EL, Abath Neto O, Pesquero JB, Reed UC, Vainzof M.

Neuromuscul Disord. 2012 Jun;22(6):541-5. doi: 10.1016/j.nmd.2011.12.005. Epub 2012 Jan 20.

PMID:
22264517
[PubMed - indexed for MEDLINE]
19.

[Myotubular myopathy].

Guiraud-Chaumeil C, Laporte J, Mandel JL, Warter JM.

Rev Neurol (Paris). 2000 Nov;156(11):960-4. Review. French.

PMID:
11119047
[PubMed - indexed for MEDLINE]
20.

Identification of a mutation in the MTM1 gene, associated with X-linked myotubular myopathy, in a Greek family.

Fidani L, Karagianni P, Tsakalidis C, Mitsiako G, Hatziioannidis I, Biancalana V, Nikolaidis N.

Hippokratia. 2011 Jul;15(3):278-9.

PMID:
22435031
[PubMed]
Free PMC Article

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