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Journal Abstract Search

174 related items for PubMed ID: 32557990

  • 1. A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity.
    Vissing J, Dahlqvist JR, Roudaut C, Poupiot J, Richard I, Duno M, Krag T.
    Hum Mutat; 2020 Sep; 41(9):1507-1513. PubMed ID: 32557990
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  • 2. 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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  • 5. Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21.
    Martinez-Thompson JM, Niu Z, Tracy JA, Moore SA, Swenson A, Wieben ED, Milone M.
    Muscle Nerve; 2018 Apr; 57(4):679-683. PubMed ID: 28881388
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  • 8. 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 Apr; 8(1):125-136. PubMed ID: 33337384
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  • 11. 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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  • 13. A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency.
    Martinez-Thompson JM, Moore SA, Liewluck T.
    J Clin Neurosci; 2018 Jul; 53():229-231. PubMed ID: 29685414
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  • 14. 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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  • 15. 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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  • 17. 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; 43(10):1347-1353. PubMed ID: 35731190
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  • 19. 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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  • 20. 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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