Below are the most recent publications written about "Desmin" by people in Profiles.
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Goldfarb LG, Dalakas MC. Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. J Clin Invest. 2009 Jul; 119(7):1806-13.
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Muth IE, Barthel K, Bähr M, Dalakas MC, Schmidt J. Proinflammatory cell stress in sporadic inclusion body myositis muscle: overexpression of alphaB-crystallin is associated with amyloid precursor protein and accumulation of beta-amyloid. J Neurol Neurosurg Psychiatry. 2009 Dec; 80(12):1344-9.
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Raju R, Dalakas MC. Absence of upregulated genes associated with protein accumulations in desmin myopathy. Muscle Nerve. 2007 Mar; 35(3):386-8.
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Goudeau B, Rodrigues-Lima F, Fischer D, Casteras-Simon M, Sambuughin N, de Visser M, Laforet P, Ferrer X, Chapon F, Sjöberg G, Kostareva A, Sejersen T, Dalakas MC, Goldfarb LG, Vicart P. Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. Hum Mutat. 2006 Sep; 27(9):906-13.
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Dagvadorj A, Olivé M, Urtizberea JA, Halle M, Shatunov A, Bönnemann C, Park KY, Goebel HH, Ferrer I, Vicart P, Dalakas MC, Goldfarb LG. A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin. J Neurol. 2004 Feb; 251(2):143-9.
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Goldfarb LG, Vicart P, Goebel HH, Dalakas MC. Desmin myopathy. Brain. 2004 Apr; 127(Pt 4):723-34.
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Kaminska A, Strelkov SV, Goudeau B, Olivé M, Dagvadorj A, Fidzianska A, Simon-Casteras M, Shatunov A, Dalakas MC, Ferrer I, Kwiecinski H, Vicart P, Goldfarb LG. Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy. Hum Genet. 2004 Feb; 114(3):306-13.
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Dalakas MC, Dagvadorj A, Goudeau B, Park KY, Takeda K, Simon-Casteras M, Vasconcelos O, Sambuughin N, Shatunov A, Nagle JW, Sivakumar K, Vicart P, Goldfarb LG. Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations. Neuromuscul Disord. 2003 Mar; 13(3):252-8.
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Schröder R, Kunz WS, Rouan F, Pfendner E, Tolksdorf K, Kappes-Horn K, Altenschmidt-Mehring M, Knoblich R, van der Ven PF, Reimann J, Fürst DO, Blümcke I, Vielhaber S, Zillikens D, Eming S, Klockgether T, Uitto J, Wiche G, Rolfs A. Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy. J Neuropathol Exp Neurol. 2002 Jun; 61(6):520-30.
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Li M, Dalakas MC. Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutations. Ann Neurol. 2001 Apr; 49(4):532-6.