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Journal Abstract Search

261 related items for PubMed ID: 18563459

  • 1. Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
    Blázquez L, Azpitarte M, Sáenz A, Goicoechea M, Otaegui D, Ferrer X, Illa I, Gutierrez-Rivas E, Vilchez JJ, López de Munain A.
    Neurogenetics; 2008 Jul; 9(3):173-82. PubMed ID: 18563459
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.
    Jaka O, Azpitarte M, Paisán-Ruiz C, Zulaika M, Casas-Fraile L, Sanz R, Trevisiol N, Levy N, Bartoli M, Krahn M, López de Munain A, Sáenz A.
    Muscle Nerve; 2014 Sep; 50(3):448-53. PubMed ID: 24715573
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
    Pathak P, Sharma MC, Jha P, Sarkar C, Faruq M, Jha P, Suri V, Bhatia R, Singh S, Gulati S, Husain M.
    J Neuromuscul Dis; 2021 Feb; 8(1):125-136. PubMed ID: 33337384
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation.
    Hu Y, Mohassel P, Donkervoort S, Yun P, Bolduc V, Ezzo D, Dastgir J, Marshall JL, Lek M, MacArthur DG, Foley AR, Bönnemann CG.
    J Neuromuscul Dis; 2019 Apr; 6(4):475-483. PubMed ID: 31498126
    [Abstract] [Full Text] [Related]

  • 8. Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.
    Shin JH, Kim HS, Lee CH, Kim CM, Park KH, Kim DS.
    J Korean Med Sci; 2007 Jun; 22(3):463-9. PubMed ID: 17596655
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs.
    Blázquez L, Aiastui A, Goicoechea M, Martins de Araujo M, Avril A, Beley C, García L, Valcárcel J, Fortes P, López de Munain A.
    Hum Mutat; 2013 Oct; 34(10):1387-95. PubMed ID: 23864287
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
    Groen EJ, Charlton R, Barresi R, Anderson LV, Eagle M, Hudson J, Koref MS, Straub V, Bushby KM.
    Brain; 2007 Dec; 130(Pt 12):3237-49. PubMed ID: 18055493
    [Abstract] [Full Text] [Related]

  • 15. Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.
    Pantoja-Melendez CA, Miranda-Duarte A, Roque-Ramirez B, Zenteno JC.
    PLoS One; 2017 Dec; 12(1):e0170280. PubMed ID: 28103310
    [Abstract] [Full Text] [Related]

  • 16. Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan.
    Wang CH, Liang WC, Minami N, Nishino I, Jong YJ.
    Pediatr Neonatol; 2015 Feb; 56(1):62-5. PubMed ID: 23597518
    [Abstract] [Full Text] [Related]

  • 17. Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1.
    Zhang C, Zheng X, Lu D, Xu L, Che F, Liu S.
    Mol Med Rep; 2021 Jun; 23(6):. PubMed ID: 33899113
    [Abstract] [Full Text] [Related]

  • 18. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
    Vissing J, Barresi R, Witting N, Van Ghelue M, Gammelgaard L, Bindoff LA, Straub V, Lochmüller H, Hudson J, Wahl CM, Arnardottir S, Dahlbom K, Jonsrud C, Duno M.
    Brain; 2016 Aug; 139(Pt 8):2154-63. PubMed ID: 27259757
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A.
    Al-Harbi TM, Abdulmanaʼ SO, Dridi W.
    J Clin Neuromuscul Dis; 2016 Dec; 18(2):89-91. PubMed ID: 27861222
    [Abstract] [Full Text] [Related]

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