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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

312 related items for PubMed ID: 31498126

  • 1. 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; 6(4):475-483. PubMed ID: 31498126
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  • 2. 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; 8(1):125-136. PubMed ID: 33337384
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  • 8. 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
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  • 10. 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
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  • 14. Molecular genetic study of Calpainopathy in Iran.
    Mojbafan M, Khajeh A, Habibi H, Bagherian H, Zeinali S.
    Gene; 2018 Nov 30; 677():259-265. PubMed ID: 30056071
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  • 15. CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
    Mroczek M, Inashkina I, Stavusis J, Zayakin P, Khrunin A, Micule I, Kenina V, Zdanovica A, Zídková J, Fajkusová L, Limborska S, van der Kooi AJ, Brusse E, Leonardis L, Maver A, Pajusalu S, Õunap K, Puusepp S, Dobosz P, Sypniewski M, Burnyte B, Lace B.
    Hum Mutat; 2022 Oct 30; 43(10):1347-1353. PubMed ID: 35731190
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  • 17. Severe limb-girdle muscular dystrophy 2A in two young siblings from Guinea-Bissau associated with a novel null homozygous mutation in CAPN3 gene.
    Oliveira Santos M, Ninitas P, Conceição I.
    Neuromuscul Disord; 2018 Dec 30; 28(12):1003-1005. PubMed ID: 30415788
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  • 18. 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 30; 12(1):e0170280. PubMed ID: 28103310
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  • 19. 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 30; 50(3):448-53. PubMed ID: 24715573
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