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Journal Abstract Search

185 related items for PubMed ID: 30500922

  • 1. Divergent Features of Mitochondrial Deficiencies in LGMD2A Associated With Novel Calpain-3 Mutations.
    El-Khoury R, Traboulsi S, Hamad T, Lamaa M, Sawaya R, Ahdab-Barmada M.
    J Neuropathol Exp Neurol; 2019 Jan 01; 78(1):88-98. PubMed ID: 30500922
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  • 4. 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 01; 56(1):62-5. PubMed ID: 23597518
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  • 5. Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
    Toral-Ojeda I, Aldanondo G, Lasa-Elgarresta J, Lasa-Fernández H, Fernández-Torrón R, López de Munain A, Vallejo-Illarramendi A.
    Expert Rev Mol Med; 2016 Apr 08; 18():e7. PubMed ID: 27055500
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  • 6. 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 08; 33(3):424-32. PubMed ID: 16372320
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  • 11. 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 08; 18(2):89-91. PubMed ID: 27861222
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  • 12. 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 08; 22(3):463-9. PubMed ID: 17596655
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  • 13. 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 Jun 08; 12(1):e0170280. PubMed ID: 28103310
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  • 14. Gene Correction of LGMD2A Patient-Specific iPSCs for the Development of Targeted Autologous Cell Therapy.
    Selvaraj S, Dhoke NR, Kiley J, Mateos-Aierdi AJ, Tungtur S, Mondragon-Gonzalez R, Killeen G, Oliveira VKP, López de Munain A, Perlingeiro RCR.
    Mol Ther; 2019 Dec 04; 27(12):2147-2157. PubMed ID: 31501033
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  • 16. 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 04; 128(Pt 4):732-42. PubMed ID: 15689361
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  • 17. 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 04; 50(3):448-53. PubMed ID: 24715573
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  • 20. Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations.
    Lasa-Elgarresta J, Mosqueira-Martín L, Naldaiz-Gastesi N, Sáenz A, López de Munain A, Vallejo-Illarramendi A.
    Int J Mol Sci; 2019 Sep 13; 20(18):. PubMed ID: 31540302
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