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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

448 related items for PubMed ID: 31937337

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  • 4. 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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  • 6. Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.
    Ten Dam L, de Visser M, Ginjaar IB, van Duyvenvoorde HA, van Koningsbruggen S, van der Kooi AJ.
    J Neuromuscul Dis; 2021 Jul; 8(2):261-272. PubMed ID: 33386810
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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 Jul; 26(4-5):277-82. PubMed ID: 27020652
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  • 8. Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
    Stehlíková K, Skálová D, Zídková J, Mrázová L, Vondráček P, Mazanec R, Voháňka S, Haberlová J, Hermanová M, Zámečník J, Souček O, Ošlejšková H, Dvořáčková N, Solařová P, Fajkusová L.
    BMC Neurol; 2014 Aug 19; 14():154. PubMed ID: 25135358
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Pegoraro E, Hoffman EP.
    ; 1993 Aug 19. PubMed ID: 20301582
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  • 10. Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes.
    Fendri K, Kefi M, Hentati F, Amouri R.
    Neuromuscul Disord; 2006 May 19; 16(5):316-20. PubMed ID: 16616845
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  • 11. Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
    Fichna JP, Macias A, Piechota M, Korostyński M, Potulska-Chromik A, Redowicz MJ, Zekanowski C.
    Hum Genomics; 2018 Jul 03; 12(1):34. PubMed ID: 29970176
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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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  • 14. 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 04; 139(Pt 8):2154-63. PubMed ID: 27259757
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  • 17. 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 Aug 04; 12(1):e0170280. PubMed ID: 28103310
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  • 19. 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 Aug 04; 6(4):475-483. PubMed ID: 31498126
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  • 20. Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures.
    Landires I, Núñez-Samudio V, Fernandez J, Sarria C, Villareal V, Córdoba F, Apráez-Ippolito G, Martínez S, Vidal OM, Vélez JI, Arcos-Holzinger M, Landires S, Arcos-Burgos M.
    Genes (Basel); 2020 Jan 25; 11(2):. PubMed ID: 31991774
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