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FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data.
Kley RA, Leber Y, Schrank B, Zhuge H, Orfanos Z, Kostan J, Onipe A, Sellung D, Güttsches AK, Eggers B, Jacobsen F, Kress W, Marcus K, Djinovic-Carugo K, van der Ven PFM, Fürst DO, Vorgerd M. Kley RA, et al. Neurol Genet. 2021 May 18;7(3):e590. doi: 10.1212/NXG.0000000000000590. eCollection 2021 Jun. Neurol Genet. 2021. PMID: 34235269 Free PMC article.
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schöffler W, van der Ven PFM, Fürst DO, Song J, Djinović-Carugo K, Penttilä S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG. Duff RM, et al. Am J Hum Genet. 2011 Jun 10;88(6):729-740. doi: 10.1016/j.ajhg.2011.04.021. Epub 2011 May 27. Am J Hum Genet. 2011. PMID: 21620354 Free PMC article.
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.
Kley RA, Serdaroglu-Oflazer P, Leber Y, Odgerel Z, van der Ven PF, Olivé M, Ferrer I, Onipe A, Mihaylov M, Bilbao JM, Lee HS, Höhfeld J, Djinović-Carugo K, Kong K, Tegenthoff M, Peters SA, Stenzel W, Vorgerd M, Goldfarb LG, Fürst DO. Kley RA, et al. Brain. 2012 Sep;135(Pt 9):2642-60. doi: 10.1093/brain/aws200. Brain. 2012. PMID: 22961544 Free PMC article.
128 results