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Journal Abstract Search

444 related items for PubMed ID: 19458539

  • 1. Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.
    Shalaby S, Mitsuhashi H, Matsuda C, Minami N, Noguchi S, Nonaka I, Nishino I, Hayashi YK.
    J Neuropathol Exp Neurol; 2009 Jun; 68(6):701-7. PubMed ID: 19458539
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  • 2. Actin-organising properties of the muscular dystrophy protein myotilin.
    von Nandelstadh P, Grönholm M, Moza M, Lamberg A, Savilahti H, Carpén O.
    Exp Cell Res; 2005 Oct 15; 310(1):131-9. PubMed ID: 16122733
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  • 4. A mutation in myotilin causes spheroid body myopathy.
    Foroud T, Pankratz N, Batchman AP, Pauciulo MW, Vidal R, Miravalle L, Goebel HH, Cushman LJ, Azzarelli B, Horak H, Farlow M, Nichols WC.
    Neurology; 2005 Dec 27; 65(12):1936-40. PubMed ID: 16380616
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  • 8. Myotilin overexpression enhances myopathology in the LGMD1A mouse model.
    Garvey SM, Liu Y, Miller SE, Hauser MA.
    Muscle Nerve; 2008 May 27; 37(5):663-7. PubMed ID: 18335471
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  • 9. Two novel CAV3 gene mutations in Japanese families.
    Sugie K, Murayama K, Noguchi S, Murakami N, Mochizuki M, Hayashi YK, Nonaka I, Nishino I.
    Neuromuscul Disord; 2004 Dec 27; 14(12):810-4. PubMed ID: 15564037
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  • 13. Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
    Jenne DE, Kley RA, Vorgerd M, Schröder JM, Weis J, Reimann H, Albrecht B, Nürnberg P, Thiele H, Müller CR, Meng G, Witt CC, Labeit S.
    Biol Chem; 2005 Jan 27; 386(1):61-7. PubMed ID: 15843148
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  • 15. 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 27; 16(7):432-6. PubMed ID: 16730439
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  • 16. Myotilin is mutated in limb girdle muscular dystrophy 1A.
    Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC.
    Hum Mol Genet; 2000 Sep 01; 9(14):2141-7. PubMed ID: 10958653
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  • 18. Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation.
    Pathak P, Sharma MC, Sarkar C, Jha P, Suri V, Mohd H, Singh S, Bhatia R, Gulati S.
    Neurol India; 2010 Sep 01; 58(4):549-54. PubMed ID: 20739790
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  • 20. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
    Selcen D, Ohno K, Engel AG.
    Brain; 2004 Feb 01; 127(Pt 2):439-51. PubMed ID: 14711882
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