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Journal Abstract Search

332 related items for PubMed ID: 24715573

  • 1. 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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  • 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
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  • 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
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  • 7. 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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  • 9. 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
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  • 10. 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; 27(2):134-6. PubMed ID: 16816913
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  • 11. 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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  • 12. Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
    Inashkina I, Jankevics E, Stavusis J, Vasiljeva I, Viksne K, Micule I, Strautmanis J, Naudina MS, Cimbalistiene L, Kucinskas V, Krumina A, Utkus A, Burnyte B, Matuleviciene A, Lace B.
    BMC Musculoskelet Disord; 2016 May 04; 17():200. PubMed ID: 27142102
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  • 13. 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 04; 17(2):143-7. PubMed ID: 17157502
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  • 14. 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 04; 8(1):125-136. PubMed ID: 33337384
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  • 15. 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 04; 31(2):125-35. PubMed ID: 20477750
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  • 16. Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.
    Fadaee M, Kariminejad A, Fattahi Z, Nafissi S, Godarzi HR, Beheshtian M, Vazehan R, Akbari MR, Kahrizi K, Najmabadi H.
    Neuromuscul Disord; 2016 Apr 04; 26(4-5):277-82. PubMed ID: 27020652
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  • 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 04; 23(6):. PubMed ID: 33899113
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  • 18. 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 04; 18(2):89-91. PubMed ID: 27861222
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  • 19. 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 04; 17(2):59-62. PubMed ID: 26583491
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