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Journal Abstract Search

328 related items for PubMed ID: 23519732

  • 1. Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected].
    Nilsson MI, Laureano ML, Saeed M, Tarnopolsky MA.
    Muscle Nerve; 2013 May; 47(5):740-7. PubMed ID: 23519732
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  • 2. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
    Nguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella-Branger D, Pouget J, Hammouda el H, Béroud C, Urtizberea A, Eymard B, Leturcq F, Lévy N.
    Hum Mutat; 2005 Aug; 26(2):165. PubMed ID: 16010686
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  • 3. Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF.
    Diers A, Carl M, Stoltenburg-Didinger G, Vorgerd M, Spuler S.
    Neuromuscul Disord; 2007 Feb; 17(2):157-62. PubMed ID: 17129727
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  • 4. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.
    Nguyen K, Bassez G, Krahn M, Bernard R, Laforêt P, Labelle V, Urtizberea JA, Figarella-Branger D, Romero N, Attarian S, Leturcq F, Pouget J, Lévy N, Eymard B.
    Arch Neurol; 2007 Aug; 64(8):1176-82. PubMed ID: 17698709
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  • 5. Analysis of the DYSF mutational spectrum in a large cohort of patients.
    Krahn M, Béroud C, Labelle V, Nguyen K, Bernard R, Bassez G, Figarella-Branger D, Fernandez C, Bouvenot J, Richard I, Ollagnon-Roman E, Bevilacqua JA, Salvo E, Attarian S, Chapon F, Pellissier JF, Pouget J, Hammouda el H, Laforêt P, Urtizberea JA, Eymard B, Leturcq F, Lévy N.
    Hum Mutat; 2009 Feb; 30(2):E345-75. PubMed ID: 18853459
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  • 12. Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family.
    Rosas-Vargas H, Gómez-Díaz B, Ruano-Calderón L, Fernández-Valverde F, Roque-Ramírez B, Portillo-Bobadilla T, Ordoñez-Razo RM, Minauro-Sanmiguel F, Coral-Vázquez R.
    Genet Test; 2007 Feb; 11(4):391-6. PubMed ID: 18294055
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  • 14. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb--girdle muscular dystrophies.
    Piccolo F, Moore SA, Ford GC, Campbell KP.
    Ann Neurol; 2000 Dec; 48(6):902-12. PubMed ID: 11117547
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  • 16. Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.
    Santos R, Oliveira J, Vieira E, Coelho T, Carneiro AL, Evangelista T, Dias C, Fortuna A, Geraldo A, Negrão L, Guimarães A, Bronze-da-Rocha E.
    J Hum Genet; 2010 Aug; 55(8):546-9. PubMed ID: 20535123
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  • 17. Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions.
    Therrien C, Dodig D, Karpati G, Sinnreich M.
    J Neurol Sci; 2006 Dec 01; 250(1-2):71-8. PubMed ID: 16996541
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  • 19. Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies.
    Ankala A, Nallamilli BR, Rufibach LE, Hwang E, Hegde MR.
    Muscle Nerve; 2014 Sep 01; 50(3):333-9. PubMed ID: 24488599
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