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Journal Abstract Search

139 related items for PubMed ID: 23155419

  • 1. Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.
    McDonald KK, Stajich J, Blach C, Ashley-Koch AE, Hauser MA.
    PLoS One; 2012; 7(11):e48864. PubMed ID: 23155419
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  • 2. 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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  • 3. A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.
    Cetin N, Balci-Hayta B, Gundesli H, Korkusuz P, Purali N, Talim B, Tan E, Selcen D, Erdem-Ozdamar S, Dincer P.
    J Med Genet; 2013 Jul 03; 50(7):437-43. PubMed ID: 23687351
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  • 4. Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.
    Couthouis J, Raphael AR, Siskind C, Findlay AR, Buenrostro JD, Greenleaf WJ, Vogel H, Day JW, Flanigan KM, Gitler AD.
    Neuromuscul Disord; 2014 May 03; 24(5):431-5. PubMed ID: 24594375
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  • 6. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
    Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH.
    Ann Neurol; 2012 Mar 03; 71(3):407-16. PubMed ID: 22334415
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  • 9. 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 03; 23(6):. PubMed ID: 33899113
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  • 11. 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 Jun 03; 26(4-5):277-82. PubMed ID: 27020652
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  • 12. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
    Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB.
    J Hum Genet; 2017 Feb 03; 62(2):243-252. PubMed ID: 27708273
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  • 13. A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2.
    Palenzuela L, Andreu AL, Gàmez J, Vilà MR, Kunimatsu T, Meseguer A, Cervera C, Fernandez Cadenas I, van der Ven PF, Nygaard TG, Bonilla E, Hirano M.
    Neurology; 2003 Aug 12; 61(3):404-6. PubMed ID: 12913210
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  • 15. A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.
    Pál E, Zima J, Hadzsiev K, Ito YA, Hartley T, Care4Rare Canada ConsortiumChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Canada., Boycott KM, Melegh B.
    Eur J Med Genet; 2019 Jul 12; 62(7):103662. PubMed ID: 31071488
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  • 16. Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb-girdle muscular dystrophy.
    Zhao X, Gao C, Li L, Jiang L, Wei Y, Che F, Liu Q.
    Int J Dev Neurosci; 2023 Feb 12; 83(1):23-30. PubMed ID: 36217604
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  • 17. 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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  • 20. Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.
    Kley RA, Serdaroglu-Oflazer P, Leber Y, Odgerel Z, van der Ven PF, Olivé M, Ferrer I, Onipe A, Mihaylov M, Bilbao JM, Lee HS, Höhfeld J, Djinović-Carugo K, Kong K, Tegenthoff M, Peters SA, Stenzel W, Vorgerd M, Goldfarb LG, Fürst DO.
    Brain; 2012 Sep 14; 135(Pt 9):2642-60. PubMed ID: 22961544
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