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Journal Abstract Search

205 related items for PubMed ID: 16002060

  • 21. Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM.
    Garvey SM, Miller SE, Claflin DR, Faulkner JA, Hauser MA.
    Hum Mol Genet; 2006 Aug 01; 15(15):2348-62. PubMed ID: 16801328
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  • 22. Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.
    Müller JS, Piko H, Schoser BG, Schlotter-Weigel B, Reilich P, Gürster S, Born C, Karcagi V, Pongratz D, Lochmüller H, Walter MC.
    Neuromuscul Disord; 2006 Jul 01; 16(7):432-6. PubMed ID: 16730439
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  • 23. Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.
    van der Kooi AJ, Frankhuizen WS, Barth PG, Howeler CJ, Padberg GW, Spaans F, Wintzen AR, Wokke JH, van Ommen GJ, de Visser M, Bakker E, Ginjaar HB.
    Neurology; 2007 Jun 12; 68(24):2125-8. PubMed ID: 17562833
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  • 24. Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro.
    Kramerova I, Kudryashova E, Tidball JG, Spencer MJ.
    Hum Mol Genet; 2004 Jul 01; 13(13):1373-88. PubMed ID: 15138196
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  • 25. Congenital muscular dystrophies and the extracellular matrix.
    Schessl J, Zou Y, Bönnemann CG.
    Semin Pediatr Neurol; 2006 Jun 01; 13(2):80-9. PubMed ID: 17027857
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  • 26. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.
    Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, Compton AG, Cairns AG, Corbett A, MacArthur DG, Yang N, Reardon K, North KN.
    Neuromuscul Disord; 2008 Jan 01; 18(1):34-44. PubMed ID: 17897828
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  • 27. Molecular bases of autosomal recessive limb-girdle muscular dystrophies.
    Nigro V.
    Acta Myol; 2003 Sep 01; 22(2):35-42. PubMed ID: 14959561
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  • 28. Limb-girdle muscular dystrophies: heterogeneity of clinical phenotypes and pathogenetic mechanisms.
    Angelini C.
    Acta Myol; 2004 Dec 01; 23(3):130-6. PubMed ID: 15938568
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  • 29. Cardiac involvement in muscular dystrophies: molecular mechanisms.
    Goodwin FC, Muntoni F.
    Muscle Nerve; 2005 Nov 01; 32(5):577-88. PubMed ID: 15937873
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  • 30. Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?
    Pizzanelli C, Mancuso M, Galli R, Choub A, Fanin M, Nascimbeni AC, Siciliano G, Murri L.
    Neurol Sci; 2006 Jun 01; 27(2):134-6. PubMed ID: 16816913
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  • 36. Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene.
    Yamamoto LU, Velloso FJ, Lima BL, Fogaça LL, de Paula F, Vieira NM, Zatz M, Vainzof M.
    J Histochem Cytochem; 2008 Nov 01; 56(11):995-1001. PubMed ID: 18645206
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