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Pathological consequences of VCP mutations on human striated muscle.
Hübbers CU, Clemen CS, Kesper K, Böddrich A, Hofmann A, Kämäräinen O, Tolksdorf K, Stumpf M, Reichelt J, Roth U, Krause S, Watts G, Kimonis V, Wattjes MP, Reimann J, Thal DR, Biermann K, Evert BO, Lochmüller H, Wanker EE, Schoser BG, Noegel AA, Schröder R. Hübbers CU, et al. Among authors: reimann j. Brain. 2007 Feb;130(Pt 2):381-93. doi: 10.1093/brain/awl238. Epub 2006 Sep 19. Brain. 2007. PMID: 16984901
Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.
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. Schröder R, et al. Among authors: reimann j. J Neuropathol Exp Neurol. 2002 Jun;61(6):520-30. doi: 10.1093/jnen/61.6.520. J Neuropathol Exp Neurol. 2002. PMID: 12071635
Mitochondrial dysfunction in myofibrillar myopathy.
Reimann J, Kunz WS, Vielhaber S, Kappes-Horn K, Schröder R. Reimann J, et al. Neuropathol Appl Neurobiol. 2003 Feb;29(1):45-51. doi: 10.1046/j.1365-2990.2003.00428.x. Neuropathol Appl Neurobiol. 2003. PMID: 12581339
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. Schröder R, et al. Among authors: reimann j. Hum Mol Genet. 2003 Mar 15;12(6):657-69. doi: 10.1093/hmg/ddg060. Hum Mol Genet. 2003. PMID: 12620971
Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies.
Strach K, Sommer T, Grohé C, Meyer C, Fischer D, Walter MC, Vorgerd M, Reilich P, Bär H, Reimann J, Reuner U, Germing A, Goebel HH, Lochmüller H, Wintersperger B, Schröder R. Strach K, et al. Among authors: reimann j. Neuromuscul Disord. 2008 Jun;18(6):475-82. doi: 10.1016/j.nmd.2008.03.012. Epub 2008 May 27. Neuromuscul Disord. 2008. PMID: 18504128
414 results