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Journal Abstract Search

382 related items for PubMed ID: 11053681

  • 21. 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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  • 22. 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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  • 23. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).
    Weiler T, Bashir R, Anderson LV, Davison K, Moss JA, Britton S, Nylen E, Keers S, Vafiadaki E, Greenberg CR, Bushby CR, Wrogemann K.
    Hum Mol Genet; 1999 May; 8(5):871-7. PubMed ID: 10196377
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  • 24. Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy.
    Hofhuis J, Bersch K, Büssenschütt R, Drzymalski M, Liebetanz D, Nikolaev VO, Wagner S, Maier LS, Gärtner J, Klinge L, Thoms S.
    J Cell Sci; 2017 Mar 01; 130(5):841-852. PubMed ID: 28104817
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  • 25. Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy.
    Patel NJ, Van Dyke KW, Espinoza LR.
    Am J Med Sci; 2017 May 01; 353(5):484-491. PubMed ID: 28502335
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  • 26. Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency.
    Prelle A, Sciacco M, Tancredi L, Fagiolari G, Comi GP, Ciscato P, Serafini M, Fortunato F, Zecca C, Gallanti A, Chiveri L, Bresolin N, Scarlato G, Moggio M.
    Acta Neuropathol; 2003 Jun 01; 105(6):537-42. PubMed ID: 12734659
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  • 27. Translational research and therapeutic perspectives in dysferlinopathies.
    Barthélémy F, Wein N, Krahn M, Lévy N, Bartoli M.
    Mol Med; 2011 Jun 01; 17(9-10):875-82. PubMed ID: 21556485
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  • 31. 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 Jun 01; 8(2):261-272. PubMed ID: 33386810
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  • 33. Symptomatic dysferlin gene mutation carriers: characterization of two cases.
    Illa I, De Luna N, Domínguez-Perles R, Rojas-García R, Paradas C, Palmer J, Márquez C, Gallano P, Gallardo E.
    Neurology; 2007 Apr 17; 68(16):1284-9. PubMed ID: 17287450
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  • 40. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies.
    Pogue R, Anderson LV, Pyle A, Sewry C, Pollitt C, Johnson MA, Davison K, Moss JA, Mercuri E, Muntoni F, Bushby KM.
    Neuromuscul Disord; 2001 Jan 17; 11(1):80-7. PubMed ID: 11166169
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