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Journal Abstract Search

223 related items for PubMed ID: 27262448

  • 1. Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group.
    Mojbafan M, Tonekaboni SH, Abiri M, Kianfar S, Sarhadi A, Nilipour Y, Tavakkoly-Bazzaz J, Zeinali S.
    J Mol Neurosci; 2016 Jul; 59(3):392-6. PubMed ID: 27262448
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  • 2. 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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  • 3. Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect.
    Mojbafan M, Bahmani R, Bagheri SD, Sharifi Z, Zeinali S.
    Orphanet J Rare Dis; 2020 Jan 14; 15(1):14. PubMed ID: 31937337
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  • 11. 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 14; 57(4):679-683. PubMed ID: 28881388
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  • 12. Limb-girdle muscular dystrophy type 2A resulting from homozygous G2338C transversion mutation in the calpain-3 gene.
    Peddareddygari LR, Surgan V, Grewal RP.
    J Clin Neuromuscul Dis; 2010 Dec 14; 12(2):62-5. PubMed ID: 21386772
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  • 13. Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.
    González-Mera L, Ravenscroft G, Cabrera-Serrano M, Ermolova N, Domínguez-González C, Arteche-López A, Soltanzadeh P, Evesson F, Navas C, Mavillard F, Clayton J, Rodrigo P, Servián-Morilla E, Cooper ST, Waddell L, Reardon K, Corbett A, Hernandez-Laín A, Sanchez A, Esteban Perez J, Paradas-Lopez C, Rivas-Infante E, Spencer M, Laing N, Olivé M.
    Neuropathol Appl Neurobiol; 2021 Feb 14; 47(2):283-296. PubMed ID: 32896923
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  • 15. 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 14; 386(1):61-7. PubMed ID: 15843148
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  • 17. 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 Jan 14; 6(4):475-483. PubMed ID: 31498126
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  • 18. A family with McLeod syndrome and calpainopathy with clinically overlapping diseases.
    Starling A, Schlesinger D, Kok F, Passos-Bueno MR, Vainzof M, Zatz M.
    Neurology; 2005 Dec 13; 65(11):1832-3. PubMed ID: 16344536
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  • 19. 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 13; 22(3):463-9. PubMed ID: 17596655
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