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Journal Abstract Search

399 related items for PubMed ID: 12522554

  • 1. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.
    Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL.
    Hum Genet; 2003 Feb; 112(2):135-42. PubMed ID: 12522554
    [Abstract] [Full Text] [Related]

  • 2. 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 Feb; 14(4):320-5. PubMed ID: 10502779
    [Abstract] [Full Text] [Related]

  • 3. 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 Feb; 15(5):393-409. PubMed ID: 10790201
    [Abstract] [Full Text] [Related]

  • 4. 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; 15(3):245-52. PubMed ID: 15725586
    [Abstract] [Full Text] [Related]

  • 5. Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
    Herman GE, Kopacz K, Zhao W, Mills PL, Metzenberg A, Das S.
    Hum Mutat; 2002 Feb; 19(2):114-21. PubMed ID: 11793470
    [Abstract] [Full Text] [Related]

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

  • 7. 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]

  • 8. 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; 67(5):441-2. PubMed ID: 15811014
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  • 12. 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. PubMed ID: 22153990
    [Abstract] [Full Text] [Related]

  • 13. 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; 47(12):835-7. PubMed ID: 16288675
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  • 16. Centronuclear (myotubular) myopathy.
    Jungbluth H, Wallgren-Pettersson C, Laporte J.
    Orphanet J Rare Dis; 2008 Sep 25; 3():26. PubMed ID: 18817572
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  • 17. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 25; 56(3):105-52. PubMed ID: 19728970
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  • 18. [Unilateral presentation of X-linked myotubular myopathy (XLMTM) in two out of three female carriers in a family with no affected male].
    Drouet A, Ollagnon-Roman E, Streichenberger N, Biancalana V, Cossée M, Guilloton L, Petiot P.
    Rev Neurol (Paris); 2008 Feb 25; 164(2):169-76. PubMed ID: 18358876
    [Abstract] [Full Text] [Related]

  • 19. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
    Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG.
    Nat Genet; 1999 Oct 25; 23(2):208-12. PubMed ID: 10508519
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  • 20. X-linked myotubular myopathy with probable germline mosaicism.
    Menon K, Rao TV, Bhat BA, El Amin EO.
    Clin Neuropathol; 2002 Oct 25; 21(6):265-8. PubMed ID: 12489675
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