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Journal Abstract Search

213 related items for PubMed ID: 11829483

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  • 4. CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.
    Charton K, Sarparanta J, Vihola A, Milic A, Jonson PH, Suel L, Luque H, Boumela I, Richard I, Udd B.
    Hum Mol Genet; 2015 Jul 01; 24(13):3718-31. PubMed ID: 25877298
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  • 5. Early mechanical dysfunction of the diaphragm in the muscular dystrophy with myositis (Ttnmdm) model.
    Lopez MA, Pardo PS, Cox GA, Boriek AM.
    Am J Physiol Cell Physiol; 2008 Nov 01; 295(5):C1092-102. PubMed ID: 18753318
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  • 6. Chromosomal localization of the mouse titin gene and its relation to "muscular dystrophy with myositis" and nebulin genes on chromosome 2.
    Müller-Seitz M, Kaupmann K, Labeit S, Jockusch H.
    Genomics; 1993 Dec 01; 18(3):559-61. PubMed ID: 8307566
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  • 7. Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.
    Krahn M, Pécheux C, Chapon F, Béroud C, Drouin-Garraud V, Laforet P, Romero NB, Penisson-Besnier I, Bernard R, Urtizberea JA, Leturcq F, Lévy N.
    Clin Genet; 2007 Dec 01; 72(6):582-92. PubMed ID: 17979987
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  • 9. 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 01; 386(1):61-7. PubMed ID: 15843148
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  • 11. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.
    Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B.
    Am J Hum Genet; 2002 Sep 01; 71(3):492-500. PubMed ID: 12145747
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  • 12. 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
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  • 13. Overshooting production of satellite cells in murine skeletal muscle affected by the mutation "muscular dystrophy with myositis" (mdm, Chr 2).
    Heimann P, Menke A, Rothkegel B, Jockusch H.
    Cell Tissue Res; 1996 Mar 01; 283(3):435-41. PubMed ID: 8593673
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  • 15. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene.
    Haravuori H, Vihola A, Straub V, Auranen M, Richard I, Marchand S, Voit T, Labeit S, Somer H, Peltonen L, Beckmann JS, Udd B.
    Neurology; 2001 Apr 10; 56(7):869-77. PubMed ID: 11294923
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  • 19. Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B.
    Bittner RE, Anderson LV, Burkhardt E, Bashir R, Vafiadaki E, Ivanova S, Raffelsberger T, Maerk I, Höger H, Jung M, Karbasiyan M, Storch M, Lassmann H, Moss JA, Davison K, Harrison R, Bushby KM, Reis A.
    Nat Genet; 1999 Oct 10; 23(2):141-2. PubMed ID: 10508505
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