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Journal Abstract Search

551 related items for PubMed ID: 17621527

  • 1. 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. PubMed ID: 17621527
    [Abstract] [Full Text] [Related]

  • 2. [Myotubular myopathy. Case report and review of the literature].
    Kovács SK, Korcsik J, Szabó H, Bódi I, Katona M, Bereg E, Endreffy E, Túri S, Hortobágyi T, Sztriha L.
    Orv Hetil; 2007 Sep 16; 148(37):1757-62. PubMed ID: 17827085
    [Abstract] [Full Text] [Related]

  • 3. Floppy infant caused by MTM1 mutation: a first genetically-confirmed X-linked myotubular myopathy patient in Thailand.
    Liewluck T, Raksadawan N, Limwongse C, Nishino I, Sangruchi T.
    J Med Assoc Thai; 2006 Jan 16; 89(1):99-105. PubMed ID: 16583589
    [Abstract] [Full Text] [Related]

  • 4. Muscle biopsy without centrally located nuclei in a male child with mild X-linked myotubular myopathy.
    de Goede CG, Kelsey A, Kingston H, Tomlin PI, Hughes MI.
    Dev Med Child Neurol; 2005 Dec 16; 47(12):835-7. PubMed ID: 16288675
    [Abstract] [Full Text] [Related]

  • 5. "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 16; 117(3):283-91. PubMed ID: 19084976
    [Abstract] [Full Text] [Related]

  • 6. X-linked myotubular myopathy with probable germline mosaicism.
    Menon K, Rao TV, Bhat BA, El Amin EO.
    Clin Neuropathol; 2002 Mar 16; 21(6):265-8. PubMed ID: 12489675
    [Abstract] [Full Text] [Related]

  • 7. 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 Mar 16; 14(4):320-5. PubMed ID: 10502779
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  • 10. 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 16; 22(5):384-8. PubMed ID: 22153990
    [Abstract] [Full Text] [Related]

  • 11. 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 16; 20(6):375-81. PubMed ID: 20434914
    [Abstract] [Full Text] [Related]

  • 12. Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.
    Tsai TC, Horinouchi H, Noguchi S, Minami N, Murayama K, Hayashi YK, Nonaka I, Nishino I.
    Neuromuscul Disord; 2005 Mar 16; 15(3):245-52. PubMed ID: 15725586
    [Abstract] [Full Text] [Related]

  • 13. Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.
    Pierson CR, Agrawal PB, Blasko J, Beggs AH.
    Neuromuscul Disord; 2007 Jul 16; 17(7):562-8. PubMed ID: 17537630
    [Abstract] [Full Text] [Related]

  • 14. X-linked centronuclear myopathy.
    Fan HC, Lee CM, Harn HJ, Cheng SN, Yuh YS.
    Am J Perinatol; 2003 May 16; 20(4):173-9. PubMed ID: 12874727
    [Abstract] [Full Text] [Related]

  • 15. [Myotubular myopathy].
    Guiraud-Chaumeil C, Laporte J, Mandel JL, Warter JM.
    Rev Neurol (Paris); 2000 Nov 16; 156(11):960-4. PubMed ID: 11119047
    [Abstract] [Full Text] [Related]

  • 16. 'Long-term survival in X-linked myotubular myopathy'.
    Foye PM.
    Dev Med Child Neurol; 2007 Jun 16; 49(6):478. PubMed ID: 17518939
    [No Abstract] [Full Text] [Related]

  • 17. Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene.
    Tanner SM, Laporte J, Guiraud-Chaumeil C, Liechti-Gallati S.
    Hum Mutat; 1998 Jun 16; 11(1):62-8. PubMed ID: 9450905
    [Abstract] [Full Text] [Related]

  • 18. X-linked myotubular myopathy: mutation R69C identified in a family with multiple neonatal deaths.
    Cox K, Gattas M, Harvey P, Dolphin C, Friend K, Yu S.
    Clin Genet; 2005 May 16; 67(5):441-2. PubMed ID: 15811014
    [No Abstract] [Full Text] [Related]

  • 19. Centronuclear (myotubular) myopathy.
    Jungbluth H, Wallgren-Pettersson C, Laporte J.
    Orphanet J Rare Dis; 2008 Sep 25; 3():26. PubMed ID: 18817572
    [Abstract] [Full Text] [Related]

  • 20. 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. PubMed ID: 16157907
    [Abstract] [Full Text] [Related]

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