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Journal Abstract Search

456 related items for PubMed ID: 16705711

  • 1. Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.
    Wenzel K, Carl M, Perrot A, Zabojszcza J, Assadi M, Ebeling M, Geier C, Robinson PN, Kress W, Osterziel KJ, Spuler S.
    Hum Mutat; 2006 Jun; 27(6):599-600. PubMed ID: 16705711
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  • 2. Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.
    Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-García R, Freixas A, De Luna N, Calafell F, Sevilla T, Mayordomo F, Baiget M, Illa I.
    Arch Neurol; 2005 Aug; 62(8):1256-9. PubMed ID: 16087766
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  • 3. 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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  • 5. 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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  • 6. 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 01; 17(2):157-62. PubMed ID: 17129727
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  • 9. 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 01; 26(3):283. PubMed ID: 16100712
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  • 12. Novel DYSF mutations in Thai patients with distal myopathy.
    Liewluck T, Pongpakdee S, Witoonpanich R, Sangruchi T, Pho-Iam T, Limwongse C, Thongnoppakhun W, Boonyapisit K, Sopassathit V, Phudhichareonrat S, Suthiponpaisan U, Raksadawan N, Goto K, Hayashi YK, Nishino I.
    Clin Neurol Neurosurg; 2009 Sep 01; 111(7):613-8. PubMed ID: 19493611
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  • 15. Variable reduction of caveolin-3 in patients with LGMD2B/MM.
    Walter MC, Braun C, Vorgerd M, Poppe M, Thirion C, Schmidt C, Schreiber H, Knirsch UI, Brummer D, Müller-Felber W, Pongratz D, Müller-Höcker J, Huebner A, Lochmüller H.
    J Neurol; 2003 Dec 01; 250(12):1431-8. PubMed ID: 14673575
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  • 18. 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 01; 48(6):902-12. PubMed ID: 11117547
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  • 19. 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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  • 20. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype.
    Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-García R, Palmer J, Gallano P, Baiget M, Matsuda C, Brown RH.
    Ann Neurol; 2001 Jan 15; 49(1):130-4. PubMed ID: 11198284
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