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Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency.
Guergueltcheva V, Peeters K, Baets J, Ceuterick-de Groote C, Martin JJ, Suls A, De Vriendt E, Mihaylova V, Chamova T, Almeida-Souza L, Ydens E, Tzekov C, Hadjidekov G, Gospodinova M, Storm K, Reyniers E, Bichev S, van der Ven PF, Fürst DO, Mitev V, Lochmüller H, Timmerman V, Tournev I, De Jonghe P, Jordanova A. Guergueltcheva V, et al. Among authors: furst do. Neurology. 2011 Dec 13;77(24):2105-14. doi: 10.1212/WNL.0b013e31823dc51e. Epub 2011 Nov 30. Neurology. 2011. PMID: 22131542
Structure and assembly of the sarcomeric M band.
Fürst DO, Obermann WM, van der Ven PF. Fürst DO, et al. Rev Physiol Biochem Pharmacol. 1999;138:163-202. doi: 10.1007/BFb0119627. Rev Physiol Biochem Pharmacol. 1999. PMID: 10396141 Review. No abstract available.
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: furst do. J Neuropathol Exp Neurol. 2002 Jun;61(6):520-30. doi: 10.1093/jnen/61.6.520. J Neuropathol Exp Neurol. 2002. PMID: 12071635
135 results