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Journal Abstract Search

267 related items for PubMed ID: 17594342

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  • 4. 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
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  • 5. Novel Missense CAPN3 Mutation Responsible for Adult-Onset Limb Girdle Muscular Dystrophy with Calves Hypertrophy.
    Rekik S, Sakka S, Ben Romdhan S, Farhat N, Baba Amer Y, Lehkim L, Authier FJ, Mhiri C.
    J Mol Neurosci; 2019 Dec; 69(4):563-569. PubMed ID: 31410652
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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; 33(3):424-32. PubMed ID: 16372320
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  • 7. 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
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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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  • 9. 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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  • 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; 22(3):463-9. PubMed ID: 17596655
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  • 14. 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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  • 15. Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation.
    Pathak P, Sharma MC, Sarkar C, Jha P, Suri V, Mohd H, Singh S, Bhatia R, Gulati S.
    Neurol India; 2010 Feb; 58(4):549-54. PubMed ID: 20739790
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  • 16. 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
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  • 18. 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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  • 19. Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).
    Kramerova I, Beckmann JS, Spencer MJ.
    Biochim Biophys Acta; 2007 Feb; 1772(2):128-44. PubMed ID: 16934440
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  • 20. Limb-Girdle Muscular Dystrophy Type 2A Resulting From c.C479G and c.G1818A Mutations in the Calpain-3 Gene.
    Ramos E, Pardo S, Mas Rodríguez MF, Vélez J.
    J Clin Neuromuscul Dis; 2015 Dec; 17(2):59-62. PubMed ID: 26583491
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