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Journal Abstract Search

238 related items for PubMed ID: 16302276

  • 1. Proteomic investigation of the molecular pathophysiology of dysferlinopathy.
    De Palma S, Morandi L, Mariani E, Begum S, Cerretelli P, Wait R, Gelfi C.
    Proteomics; 2006 Jan; 6(1):379-85. PubMed ID: 16302276
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  • 3. Defective membrane repair in dysferlin-deficient muscular dystrophy.
    Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, McNeil PL, Campbell KP.
    Nature; 2003 May 08; 423(6936):168-72. PubMed ID: 12736685
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  • 4. Dysferlin and the plasma membrane repair in muscular dystrophy.
    Bansal D, Campbell KP.
    Trends Cell Biol; 2004 Apr 08; 14(4):206-13. PubMed ID: 15066638
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  • 5. 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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  • 6. 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 01; 26(2):165. PubMed ID: 16010686
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  • 8. The third human FER-1-like protein is highly similar to dysferlin.
    Britton S, Freeman T, Vafiadaki E, Keers S, Harrison R, Bushby K, Bashir R.
    Genomics; 2000 Sep 15; 68(3):313-21. PubMed ID: 10995573
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  • 12. Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.
    Cagliani R, Magri F, Toscano A, Merlini L, Fortunato F, Lamperti C, Rodolico C, Prelle A, Sironi M, Aguennouz M, Ciscato P, Uncini A, Moggio M, Bresolin N, Comi GP.
    Hum Mutat; 2005 Sep 15; 26(3):283. PubMed ID: 16100712
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  • 13. 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 15; 64(8):1176-82. PubMed ID: 17698709
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  • 14. 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 15; 30(2):E345-75. PubMed ID: 18853459
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  • 15. Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency.
    Ho M, Post CM, Donahue LR, Lidov HG, Bronson RT, Goolsby H, Watkins SC, Cox GA, Brown RH.
    Hum Mol Genet; 2004 Sep 15; 13(18):1999-2010. PubMed ID: 15254015
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  • 16. 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 15; 48(6):902-12. PubMed ID: 11117547
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  • 17. Characterisation of the dysferlin skeletal muscle promoter.
    Foxton RM, Laval SH, Bushby KM.
    Eur J Hum Genet; 2004 Feb 15; 12(2):127-31. PubMed ID: 14560310
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  • 19. Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
    Anderson LV, Harrison RM, Pogue R, Vafiadaki E, Pollitt C, Davison K, Moss JA, Keers S, Pyle A, Shaw PJ, Mahjneh I, Argov Z, Greenberg CR, Wrogemann K, Bertorini T, Goebel HH, Beckmann JS, Bashir R, Bushby KM.
    Neuromuscul Disord; 2000 Dec 15; 10(8):553-9. PubMed ID: 11053681
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  • 20. Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene.
    Leshinsky-Silver E, Argov Z, Rozenboim L, Cohen S, Tzofi Z, Cohen Y, Wirguin Y, Dabby R, Lev D, Sadeh M.
    Neuromuscul Disord; 2007 Dec 15; 17(11-12):950-4. PubMed ID: 17825554
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