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Journal Abstract Search

520 related items for PubMed ID: 20477750

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  • 2. Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.
    Stehlíková K, Zapletalová E, Sedlácková J, Hermanová M, Vondrácek P, Maríková T, Mazanec R, Zámecník J, Vohánka S, Fajkus J, Fajkusová L.
    Neuromuscul Disord; 2007 Feb; 17(2):143-7. PubMed ID: 17157502
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  • 4. 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; 14(10):659-65. PubMed ID: 15351423
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  • 5. Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families.
    Louhichi N, Richard P, Triki CH, Meziou M, Ayadi H, Guicheney P, Fakhfakh F.
    Arch Inst Pasteur Tunis; 2006 Oct; 83(1-4):19-23. PubMed ID: 19388593
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  • 7. CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.
    Salem IH, Hsairi I, Mezghani N, Kenoun H, Triki C, Fakhfakh F.
    J Hum Genet; 2012 Feb; 57(2):92-100. PubMed ID: 22158424
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  • 8. 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; 72(6):582-92. PubMed ID: 17979987
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  • 10. LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
    Sáenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Martí-Massó JF, López de Munain A.
    Brain; 2005 Apr; 128(Pt 4):732-42. PubMed ID: 15689361
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  • 11. Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes.
    Fendri K, Kefi M, Hentati F, Amouri R.
    Neuromuscul Disord; 2006 May; 16(5):316-20. PubMed ID: 16616845
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  • 12. LAMA2 mRNA processing alterations generate a complete deficiency of laminin-alpha2 protein and a severe congenital muscular dystrophy.
    Siala O, Louhichi N, Triki C, Morinière M, Fakhfakh F, Baklouti F.
    Neuromuscul Disord; 2008 Feb; 18(2):137-45. PubMed ID: 18053718
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  • 19. [Diagnostic procedure of limb girdle muscular dystrophies 2A or calpainopathies: French cohort from a neuromuscular center (Bordeaux)].
    Perez F, Vital A, Martin-Negrier ML, Ferrer X, Sole G.
    Rev Neurol (Paris); 2010 May; 166(5):502-8. PubMed ID: 20044116
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