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Journal Abstract Search

145 related items for PubMed ID: 18335471

  • 1. Myotilin overexpression enhances myopathology in the LGMD1A mouse model.
    Garvey SM, Liu Y, Miller SE, Hauser MA.
    Muscle Nerve; 2008 May; 37(5):663-7. PubMed ID: 18335471
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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 01; 68(6):701-7. PubMed ID: 19458539
    [Abstract] [Full Text] [Related]

  • 4. Epsilon-sarcoglycan compensates for lack of alpha-sarcoglycan in a mouse model of limb-girdle muscular dystrophy.
    Imamura M, Mochizuki Y, Engvall E, Takeda S.
    Hum Mol Genet; 2005 Mar 15; 14(6):775-83. PubMed ID: 15689353
    [Abstract] [Full Text] [Related]

  • 5. A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).
    Reilich P, Krause S, Schramm N, Klutzny U, Bulst S, Zehetmayer B, Schneiderat P, Walter MC, Schoser B, Lochmüller H.
    J Neurol; 2011 Aug 15; 258(8):1437-44. PubMed ID: 21336781
    [Abstract] [Full Text] [Related]

  • 6. Different early pathogenesis in myotilinopathy compared to primary desminopathy.
    Fischer D, Clemen CS, Olivé M, Ferrer I, Goudeau B, Roth U, Badorf P, Wattjes MP, Lutterbey G, Kral T, van der Ven PF, Fürst DO, Vicart P, Goldfarb LG, Moza M, Carpen O, Reichelt J, Schröder R.
    Neuromuscul Disord; 2006 Jun 15; 16(6):361-7. PubMed ID: 16684602
    [Abstract] [Full Text] [Related]

  • 7. Characterization of mouse myotilin and its promoter.
    Mologni L, Moza M, Lalowski MM, Carpén O.
    Biochem Biophys Res Commun; 2005 Apr 15; 329(3):1001-9. PubMed ID: 15752755
    [Abstract] [Full Text] [Related]

  • 8. SJL dystrophic mice express a significant amount of human muscle proteins following systemic delivery of human adipose-derived stromal cells without immunosuppression.
    Vieira NM, Bueno CR, Brandalise V, Moraes LV, Zucconi E, Secco M, Suzuki MF, Camargo MM, Bartolini P, Brum PC, Vainzof M, Zatz M.
    Stem Cells; 2008 Sep 15; 26(9):2391-8. PubMed ID: 18583542
    [Abstract] [Full Text] [Related]

  • 9. Myotilinopathy: refining the clinical and myopathological phenotype.
    Olivé M, Goldfarb LG, Shatunov A, Fischer D, Ferrer I.
    Brain; 2005 Oct 15; 128(Pt 10):2315-26. PubMed ID: 15947064
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 14(12):810-4. PubMed ID: 15564037
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies.
    Charton K, Danièle N, Vihola A, Roudaut C, Gicquel E, Monjaret F, Tarrade A, Sarparanta J, Udd B, Richard I.
    Hum Mol Genet; 2010 Dec 01; 19(23):4608-24. PubMed ID: 20855473
    [Abstract] [Full Text] [Related]

  • 13. Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A.
    Bartoli M, Roudaut C, Martin S, Fougerousse F, Suel L, Poupiot J, Gicquel E, Noulet F, Danos O, Richard I.
    Mol Ther; 2006 Feb 01; 13(2):250-9. PubMed ID: 16290124
    [Abstract] [Full Text] [Related]

  • 14. [Autosomal recessive limb-girdle muscular dystrophy].
    Hernández-Caballero ME, Miranda-Duarte A, Escobar-Cedillo RE, Villegas-Castrejon H.
    Rev Neurol; 2010 Oct 16; 51(8):489-96. PubMed ID: 20925031
    [Abstract] [Full Text] [Related]

  • 15. Limb-girdle muscular dystrophy due to emerin gene mutations.
    Ura S, Hayashi YK, Goto K, Astejada MN, Murakami T, Nagato M, Ohta S, Daimon Y, Takekawa H, Hirata K, Nonaka I, Noguchi S, Nishino I.
    Arch Neurol; 2007 Jul 16; 64(7):1038-41. PubMed ID: 17620497
    [Abstract] [Full Text] [Related]

  • 16. Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF.
    Diers A, Carl M, Stoltenburg-Didinger G, Vorgerd M, Spuler S.
    Neuromuscul Disord; 2007 Feb 16; 17(2):157-62. PubMed ID: 17129727
    [Abstract] [Full Text] [Related]

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