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Journal Abstract Search

569 related items for PubMed ID: 33899113

  • 1.
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  • 2. Compound heterozygous DYSF variants causing limb-girdle muscular dystrophy type 2B in a Chinese family.
    Li L, Jing Z, Cheng L, Liu W, Wang H, Xu Y, Zheng X, Yu X, Liu S.
    J Gene Med; 2020 Nov; 22(11):e3272. PubMed ID: 32889728
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  • 4. 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 Nov; 8(1):125-136. PubMed ID: 33337384
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  • 6. 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; 47(2):283-296. PubMed ID: 32896923
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  • 7. 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 Feb; 26(4-5):277-82. PubMed ID: 27020652
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  • 9. 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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  • 10. Variants of CAPN3 cause limb-girdle muscular dystrophy type 2A in two Chinese families.
    Zheng J, Xu X, Zhang X, Wang X, Shu J, Cai C.
    Exp Ther Med; 2021 Feb 13; 21(2):104. PubMed ID: 33335567
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  • 11. Missense mutation of c.635 T > C in CAPN3 impairs muscle injury repair in a Limb-Girdel Muscular Dystropy Model.
    Ma HS, Gong XL, Li WX, Cai Q, Chen YW, Guo XB, Ren ZR, Zeng F, Yan JB.
    Clin Genet; 2023 Jun 13; 103(6):663-671. PubMed ID: 36999564
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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. The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy.
    Valls A, Gutiérrez-Gutiérrez G, Martínez A, Ruiz-Roldán C, Camaño P, López de Munain A, Sáenz A.
    Muscle Nerve; 2024 Apr 04; 69(4):472-476. PubMed ID: 38299438
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  • 14. A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.
    Khan K, Mehmood S, Liu C, Siddiqui M, Ahmad A, Faiz BY, Chioza BA, Baple EA, Ullah MI, Akram Z, Satti HS, Khan R, Harlalka GV, Jameel M, Akram T, Baig SM, Crosby AH, Hassan MJ, Zhang F, Davis EE, Khan TN.
    Am J Med Genet A; 2022 Feb 04; 188(2):498-508. PubMed ID: 34697879
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  • 15. Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1.
    Banerjee S, Radotra BD, Luthra-Guptasarma M, Goyal MK.
    Orphanet J Rare Dis; 2024 Apr 01; 19(1):140. PubMed ID: 38561828
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  • 16. 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 01; 57(4):679-683. PubMed ID: 28881388
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  • 17. Case report: A novel mutation of the CAPN3 gene in a Chinese family with limb-girdle muscular dystrophy type 2A.
    Feng W, Cao Y, Ren R, Yang X, Cao C, Jiang H, Du G.
    Front Genet; 2024 Apr 01; 15():1410727. PubMed ID: 39188286
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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 01; 18(2):89-91. PubMed ID: 27861222
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  • 19. 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 Dec 01; 12(1):e0170280. PubMed ID: 28103310
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  • 20. 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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