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Journal Abstract Search

184 related items for PubMed ID: 17518939

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

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  • 3. 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]

  • 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; 47(12):835-7. PubMed ID: 16288675
    [Abstract] [Full Text] [Related]

  • 5. Genetic testing for myotubular myopathy despite muscle biopsy without centrally located nuclei.
    Foye PM.
    Dev Med Child Neurol; 2006 Dec; 48(12):1011. PubMed ID: 17109798
    [No Abstract] [Full Text] [Related]

  • 6. 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; 89(1):99-105. PubMed ID: 16583589
    [Abstract] [Full Text] [Related]

  • 7. 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]

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

  • 9. [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]

  • 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; 22(5):384-8. PubMed ID: 22153990
    [Abstract] [Full Text] [Related]

  • 11. [X-linked myotubular myopathy. Muscle biopsy as a diagnostic tool in neonatal myopathy].
    Dahl M, Schrøder HD, Hansen LK.
    Ugeskr Laeger; 2005 Jun 06; 167(23):2532-3. PubMed ID: 16008013
    [No Abstract] [Full Text] [Related]

  • 12. [X-linked myotubular myopathy].
    Nishino I.
    Ryoikibetsu Shokogun Shirizu; 2001 Jun 06; (35):418-20. PubMed ID: 11555972
    [No Abstract] [Full Text] [Related]

  • 13. [Congenital myopathies].
    Cabello A, Ricoy-Campo JR.
    Rev Neurol; 2001 Jun 06; 37(8):779-86. PubMed ID: 14593641
    [Abstract] [Full Text] [Related]

  • 14. 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 06; 15(3):245-52. PubMed ID: 15725586
    [Abstract] [Full Text] [Related]

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  • 16. 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 06; 19(2):114-21. PubMed ID: 11793470
    [Abstract] [Full Text] [Related]

  • 17. 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 06; 15(5):393-409. PubMed ID: 10790201
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  • 20. 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 06; 14(4):320-5. PubMed ID: 10502779
    [Abstract] [Full Text] [Related]

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