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Results: 19

1.

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.

Cowling BS, Chevremont T, Prokic I, Kretz C, Ferry A, Coirault C, Koutsopoulos O, Laugel V, Romero NB, Laporte J.

J Clin Invest. 2014 Mar 3;124(3):1350-63. doi: 10.1172/JCI71206. Epub 2014 Feb 24.

PMID:
24569376
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Dynamin 2 the rescue for centronuclear myopathy.

Demonbreun AR, McNally EM.

J Clin Invest. 2014 Mar 3;124(3):976-8. doi: 10.1172/JCI74434. Epub 2014 Feb 24.

PMID:
24569368
[PubMed - indexed for MEDLINE]
3.

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.

Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23.

PMID:
23975875
[PubMed - indexed for MEDLINE]
4.

Adult centronuclear myopathies: A hospital-based study.

Echaniz-Laguna A, Biancalana V, Böhm J, Tranchant C, Mandel JL, Laporte J.

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):625-31. doi: 10.1016/j.neurol.2012.12.006. Epub 2013 Aug 9.

PMID:
23938035
[PubMed - indexed for MEDLINE]
5.

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
6.

Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

Maggi L, Scoto M, Cirak S, Robb SA, Klein A, Lillis S, Cullup T, Feng L, Manzur AY, Sewry CA, Abbs S, Jungbluth H, Muntoni F.

Neuromuscul Disord. 2013 Mar;23(3):195-205. doi: 10.1016/j.nmd.2013.01.004. Epub 2013 Feb 8.

PMID:
23394784
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
23307925
[PubMed - indexed for MEDLINE]
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.

Neuromuscul Disord. 2013 Mar;23(3):214-8. doi: 10.1016/j.nmd.2012.11.010. Epub 2012 Dec 28.

PMID:
23273872
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Myotubularin phosphoinositide phosphatases in human diseases.

Amoasii L, Hnia K, Laporte J.

Curr Top Microbiol Immunol. 2012;362:209-33. doi: 10.1007/978-94-007-5025-8_10. Review.

PMID:
23086420
[PubMed - indexed for MEDLINE]
10.

Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.

Amoasii L, Bertazzi DL, Tronchère H, Hnia K, Chicanne G, Rinaldi B, Cowling BS, Ferry A, Klaholz B, Payrastre B, Laporte J, Friant S.

PLoS Genet. 2012;8(10):e1002965. doi: 10.1371/journal.pgen.1002965. Epub 2012 Oct 11.

PMID:
23071445
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.

Oliveira J, Oliveira ME, Kress W, Taipa R, Pires MM, Hilbert P, Baxter P, Santos M, Buermans H, den Dunnen JT, Santos R.

Eur J Hum Genet. 2013 May;21(5):540-9. doi: 10.1038/ejhg.2012.201. Epub 2012 Sep 12.

PMID:
22968136
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

X chromosome gene methylation in peripheral lymphocytes from monozygotic twins discordant for scleroderma.

Selmi C, Feghali-Bostwick CA, Lleo A, Lombardi SA, De Santis M, Cavaciocchi F, Zammataro L, Mitchell MM, Lasalle JM, Medsger T Jr, Gershwin ME.

Clin Exp Immunol. 2012 Sep;169(3):253-62. doi: 10.1111/j.1365-2249.2012.04621.x.

PMID:
22861365
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Predisposition to subdural hemorrhage in X-linked myotubular myopathy.

Koga H, Miyako K, Suga N, Hidaka T, Takahashi N.

Pediatr Neurol. 2012 May;46(5):332-4. doi: 10.1016/j.pediatrneurol.2012.02.026.

PMID:
22520358
[PubMed - indexed for MEDLINE]
14.

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]
15.

Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype.

Vasli N, Laugel V, Böhm J, Lannes B, Biancalana V, Laporte J.

Eur J Hum Genet. 2012 Jun;20(6):701-4. doi: 10.1038/ejhg.2011.256. Epub 2012 Jan 18.

PMID:
22258523
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10.

Trump N, Cullup T, Verheij JB, Manzur A, Muntoni F, Abbs S, Jungbluth H.

Neuromuscul Disord. 2012 May;22(5):384-8. doi: 10.1016/j.nmd.2011.11.004. Epub 2011 Dec 9.

PMID:
22153990
[PubMed - indexed for MEDLINE]
17.

Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.

Hedberg C, Lindberg C, Máthé G, Moslemi AR, Oldfors A.

Neuromuscul Disord. 2012 Mar;22(3):244-51. doi: 10.1016/j.nmd.2011.10.010. Epub 2011 Nov 18.

PMID:
22101172
[PubMed - indexed for MEDLINE]
18.

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
19.

Congenital myotubular myopathy with a novel MTM1 gene mutation in a premature infant presenting with ventilator dependency and intrahepatic cholestasis.

Lee IC, Su PH, Chen JY, Hu JM, Lu JJ, Ng YY.

J Child Neurol. 2012 Jan;27(1):99-104. doi: 10.1177/0883073811414419. Epub 2011 Aug 31.

PMID:
21881007
[PubMed - indexed for MEDLINE]

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