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Journal Abstract Search

440 related items for PubMed ID: 17221859

  • 21. Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain.
    Maddison P, Damian MS, Sewry C, McGorrian C, Winer JB, Odgerel Z, Shatunov A, Lee HS, Goldfarb LG.
    Eur Neurol; 2012; 68(5):279-86. PubMed ID: 23051780
    [Abstract] [Full Text] [Related]

  • 22. Disease mutations in the "head" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties.
    Sharma S, Mücke N, Katus HA, Herrmann H, Bär H.
    J Mol Med (Berl); 2009 Dec; 87(12):1207-19. PubMed ID: 19763525
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  • 23. Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.
    Dagvadorj A, Goudeau B, Hilton-Jones D, Blancato JK, Shatunov A, Simon-Casteras M, Squier W, Nagle JW, Goldfarb LG, Vicart P.
    Muscle Nerve; 2003 Jun; 27(6):669-75. PubMed ID: 12766977
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  • 24. Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation.
    Pruszczyk P, Kostera-Pruszczyk A, Shatunov A, Goudeau B, Dramiñska A, Takeda K, Sambuughin N, Vicart P, Strelkov SV, Goldfarb LG, Kamiñska A.
    Int J Cardiol; 2007 Apr 25; 117(2):244-53. PubMed ID: 16890305
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  • 25. On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
    Schröder R, Goudeau B, Simon MC, Fischer D, Eggermann T, Clemen CS, Li Z, Reimann J, Xue Z, Rudnik-Schöneborn S, Zerres K, van der Ven PF, Fürst DO, Kunz WS, Vicart P.
    Hum Mol Genet; 2003 Mar 15; 12(6):657-69. PubMed ID: 12620971
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  • 30. The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly.
    Brodehl A, Holler S, Gummert J, Milting H.
    Cells; 2022 Dec 02; 11(23):. PubMed ID: 36497166
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  • 32. [Desmin filaments and their disorganization associated with myofibrillar myopathies].
    Joanne P, Chourbagi O, Agbulut O.
    Biol Aujourdhui; 2011 Dec 02; 205(3):163-77. PubMed ID: 21982405
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  • 33. Forced expression of desmin and desmin mutants in cultured cells: impact of myopathic missense mutations in the central coiled-coil domain on network formation.
    Bär H, Kostareva A, Sjöberg G, Sejersen T, Katus HA, Herrmann H.
    Exp Cell Res; 2006 May 15; 312(9):1554-65. PubMed ID: 16519886
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  • 34. New insights into the molecular basis of desmoplakin- and desmin-related cardiomyopathies.
    Lapouge K, Fontao L, Champliaud MF, Jaunin F, Frias MA, Favre B, Paulin D, Green KJ, Borradori L.
    J Cell Sci; 2006 Dec 01; 119(Pt 23):4974-85. PubMed ID: 17105773
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  • 36. Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
    Goudeau B, Dagvadorj A, Rodrigues-Lima F, Nédellec P, Casteras-Simon M, Perret E, Langlois S, Goldfarb L, Vicart P.
    Hum Mutat; 2001 Nov 01; 18(5):388-96. PubMed ID: 11668632
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  • 38. Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.
    Bergman JE, Veenstra-Knol HE, van Essen AJ, van Ravenswaaij CM, den Dunnen WF, van den Wijngaard A, van Tintelen JP.
    Eur J Med Genet; 2007 Nov 01; 50(5):355-66. PubMed ID: 17720647
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  • 40. Severe myopathy mutations modify the nanomechanics of desmin intermediate filaments.
    Kreplak L, Bär H.
    J Mol Biol; 2009 Jan 30; 385(4):1043-51. PubMed ID: 19026658
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