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    Results: 1 to 20 of 23

    1.

    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]
    2.

    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
    3.

    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]
    4.

    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]
    5.

    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]
    6.

    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]
    7.

    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]
    8.

    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]
    9.

    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
    10.

    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]
    11.

    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.

    PMID:
    21488203
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    12.

    Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia.

    Liewluck T, Shen XM, Milone M, Engel AG.

    Neuromuscul Disord. 2011 Jun;21(6):387-95. doi: 10.1016/j.nmd.2011.03.002. Epub 2011 Apr 8.

    PMID:
    21482111
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies.

    Robb SA, Sewry CA, Dowling JJ, Feng L, Cullup T, Lillis S, Abbs S, Lees MM, Laporte J, Manzur AY, Knight RK, Mills KR, Pike MG, Kress W, Beeson D, Jungbluth H, Pitt MC, Muntoni F.

    Neuromuscul Disord. 2011 Jun;21(6):379-86. doi: 10.1016/j.nmd.2011.02.012. Epub 2011 Mar 25.

    PMID:
    21440438
    [PubMed - indexed for MEDLINE]
    14.

    Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance.

    Ribeiro I, Yuan L, Tanentzapf G, Dowling JJ, Kiger A.

    PLoS Genet. 2011 Feb 10;7(2):e1001295. doi: 10.1371/journal.pgen.1001295.

    PMID:
    21347281
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    15.

    Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations.

    Hanisch F, Müller T, Dietz A, Bitoun M, Kress W, Weis J, Stoltenburg G, Zierz S.

    J Neurol. 2011 Jun;258(6):1085-90. doi: 10.1007/s00415-010-5889-5. Epub 2011 Jan 9.

    PMID:
    21221624
    [PubMed - indexed for MEDLINE]
    16.

    Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.

    Hnia K, Tronchère H, Tomczak KK, Amoasii L, Schultz P, Beggs AH, Payrastre B, Mandel JL, Laporte J.

    J Clin Invest. 2011 Jan;121(1):70-85. doi: 10.1172/JCI44021. Epub 2010 Dec 6.

    PMID:
    21135508
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.

    Böhm J, Yiş U, Ortaç R, Cakmakçı H, Kurul SH, Dirik E, Laporte J.

    Orphanet J Rare Dis. 2010 Dec 3;5:35. doi: 10.1186/1750-1172-5-35. Review.

    PMID:
    21129173
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    18.

    Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.

    Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, Yis U, Maisonobe T, Stojkovic T, Wallgren-Pettersson C, Laugel V, Echaniz-Laguna A, Mandel JL, Nishino I, Laporte J.

    Acta Neuropathol. 2011 Feb;121(2):253-66. doi: 10.1007/s00401-010-0754-2. Epub 2010 Oct 7.

    PMID:
    20927630
    [PubMed - indexed for MEDLINE]
    19.

    RYR1 mutations are a common cause of congenital myopathies with central nuclei.

    Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Müller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, Al-Sarraj S, Treves S, Abbs S, Manzur AY, Sewry CA, Muntoni F, Jungbluth H.

    Ann Neurol. 2010 Nov;68(5):717-26. doi: 10.1002/ana.22119.

    PMID:
    20839240
    [PubMed - indexed for MEDLINE]
    20.

    Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation.

    Liewluck T, Lovell TL, Bite AV, Engel AG.

    Neuromuscul Disord. 2010 Dec;20(12):801-4. doi: 10.1016/j.nmd.2010.07.273.

    PMID:
    20817456
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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