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Journal Abstract Search

194 related items for PubMed ID: 11294923

  • 1. 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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  • 2. 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 10; 71(3):492-500. PubMed ID: 12145747
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  • 5. 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
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  • 7. Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.
    Sarparanta J, Blandin G, Charton K, Vihola A, Marchand S, Milic A, Hackman P, Ehler E, Richard I, Udd B.
    J Biol Chem; 2010 Sep 24; 285(39):30304-15. PubMed ID: 20634290
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  • 10. Induction and myofibrillar targeting of CARP, and suppression of the Nkx2.5 pathway in the MDM mouse with impaired titin-based signaling.
    Witt CC, Ono Y, Puschmann E, McNabb M, Wu Y, Gotthardt M, Witt SH, Haak M, Labeit D, Gregorio CC, Sorimachi H, Granzier H, Labeit S.
    J Mol Biol; 2004 Feb 06; 336(1):145-54. PubMed ID: 14741210
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  • 11. The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin.
    Garvey SM, Rajan C, Lerner AP, Frankel WN, Cox GA.
    Genomics; 2002 Feb 06; 79(2):146-9. PubMed ID: 11829483
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  • 15. Assignment of the tibial muscular dystrophy locus to chromosome 2q31.
    Haravuori H, Mäkelä-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L.
    Am J Hum Genet; 1998 Mar 06; 62(3):620-6. PubMed ID: 9497249
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  • 16. Skeletal muscle-specific calpain, p94, and connectin/titin: their physiological functions and relationship to limb-girdle muscular dystrophy type 2A.
    Sorimachi H, Ono Y, Suzuki K.
    Adv Exp Med Biol; 2000 Mar 06; 481():383-95; discussion 395-7. PubMed ID: 10987085
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  • 20. Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome.
    Chrobáková T, Hermanová M, Kroupová I, Vondrácek P, Maríková T, Mazanec R, Zámecník J, Stanek J, Havlová M, Fajkusová L.
    Neuromuscul Disord; 2004 Oct 06; 14(10):659-65. PubMed ID: 15351423
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