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Journal Abstract Search

362 related items for PubMed ID: 16372320

  • 1. Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients.
    Hermanová M, Zapletalová E, Sedlácková J, Chrobáková T, Letocha O, Kroupová I, Zámecník J, Vondrácek P, Mazanec R, Maríková T, Vohánka S, Fajkusová L.
    Muscle Nerve; 2006 Mar; 33(3):424-32. PubMed ID: 16372320
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  • 2. 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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  • 3. 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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  • 5. cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.
    Duno M, Sveen ML, Schwartz M, Vissing J.
    Eur J Hum Genet; 2008 Aug; 16(8):935-40. PubMed ID: 18337726
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  • 7. Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.
    Hadj Salem I, Kamoun F, Louhichi N, Rouis S, Mziou M, Fendri-Kriaa N, Makni-Ayadi F, Triki C, Fakhfakh F.
    Biosci Rep; 2011 Apr; 31(2):125-35. PubMed ID: 20477750
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  • 8. 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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  • 9. 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. 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; 386(1):61-7. PubMed ID: 15843148
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  • 12. Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling.
    Keira Y, Noguchi S, Kurokawa R, Fujita M, Minami N, Hayashi YK, Kato T, Nishino I.
    Neurosci Res; 2007 Apr; 57(4):513-21. PubMed ID: 17258832
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  • 13. Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3.
    Garnham CP, Hanna RA, Chou JS, Low KE, Gourlay K, Campbell RL, Beckmann JS, Davies PL.
    Biochemistry; 2009 Apr 21; 48(15):3457-67. PubMed ID: 19226146
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  • 14. Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?
    Pizzanelli C, Mancuso M, Galli R, Choub A, Fanin M, Nascimbeni AC, Siciliano G, Murri L.
    Neurol Sci; 2006 Jun 21; 27(2):134-6. PubMed ID: 16816913
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  • 15. Screening of the CAPN3 gene in patients with possible LGMD2A.
    Krahn M, Bernard R, Pecheux C, Hammouda el H, Eymard B, Lopez de Munain A, Cobo AM, Romero N, Urtizberea A, Leturcq F, Levy N, Calpain Study Group of the French LGMD Network.
    Clin Genet; 2006 May 21; 69(5):444-9. PubMed ID: 16650086
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  • 17. Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
    Fanin M, Fulizio L, Nascimbeni AC, Spinazzi M, Piluso G, Ventriglia VM, Ruzza G, Siciliano G, Trevisan CP, Politano L, Nigro V, Angelini C.
    Hum Mutat; 2004 Jul 21; 24(1):52-62. PubMed ID: 15221789
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  • 20. 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 21; 57(2):92-100. PubMed ID: 22158424
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