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Journal Abstract Search

225 related items for PubMed ID: 26392295

  • 1. Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.
    Zheng W, Chen H, Deng X, Yuan L, Yang Y, Song Z, Yang Z, Wu Y, Deng H.
    Mol Neurobiol; 2016 Oct; 53(8):5097-102. PubMed ID: 26392295
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  • 5. Clinical and genetic characterization of limb girdle muscular dystrophy R7 telethonin-related patients from three unrelated Chinese families.
    Chen H, Xu G, Lin F, Jin M, Cai N, Qiu L, Ye Z, Wang L, Lin M, Wang N.
    Neuromuscul Disord; 2020 Feb; 30(2):137-143. PubMed ID: 32005491
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  • 7. Adult onset limb-girdle muscular dystrophy - a recessive titinopathy masquerading as myositis.
    Dabby R, Sadeh M, Hilton-Jones D, Plotz P, Hackman P, Vihola A, Udd B, Leshinsky-Silver E.
    J Neurol Sci; 2015 Apr 15; 351(1-2):120-123. PubMed ID: 25772186
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  • 9. Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family.
    Chen Q, Zheng W, Xu H, Yang Y, Song Z, Yuan L, Deng H.
    Front Neurosci; 2021 Apr 15; 15():601757. PubMed ID: 33746696
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  • 10. Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain.
    Sun Y, Chen H, Lu Y, Duo J, Lei L, OuYang Y, Hao Y, Da Y, Shen XM.
    J Neurol; 2019 Feb 15; 266(2):498-506. PubMed ID: 30604053
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  • 11. Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype.
    Pénisson-Besnier I, Hackman P, Suominen T, Sarparanta J, Huovinen S, Richard-Crémieux I, Udd B.
    J Neurol Neurosurg Psychiatry; 2010 Nov 15; 81(11):1200-2. PubMed ID: 20571043
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  • 18. Atypical phenotypes in titinopathies explained by second titin mutations.
    Evilä A, Vihola A, Sarparanta J, Raheem O, Palmio J, Sandell S, Eymard B, Illa I, Rojas-Garcia R, Hankiewicz K, Negrão L, Löppönen T, Nokelainen P, Kärppä M, Penttilä S, Screen M, Suominen T, Richard I, Hackman P, Udd B.
    Ann Neurol; 2014 Feb 15; 75(2):230-40. PubMed ID: 24395473
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  • 19. A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.
    Pál E, Zima J, Hadzsiev K, Ito YA, Hartley T, Care4Rare Canada ConsortiumChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Canada., Boycott KM, Melegh B.
    Eur J Med Genet; 2019 Jul 15; 62(7):103662. PubMed ID: 31071488
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  • 20. 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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