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341 results

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Page 1
Myofibrillar instability exacerbated by acute exercise in filaminopathy.
Chevessier F, Schuld J, Orfanos Z, Plank AC, Wolf L, Maerkens A, Unger A, Schlötzer-Schrehardt U, Kley RA, Von Hörsten S, Marcus K, Linke WA, Vorgerd M, van der Ven PF, Fürst DO, Schröder R. Chevessier F, et al. Hum Mol Genet. 2015 Dec 20;24(25):7207-20. doi: 10.1093/hmg/ddv421. Epub 2015 Oct 15. Hum Mol Genet. 2015. PMID: 26472074
The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
Clemen CS, Stöckigt F, Strucksberg KH, Chevessier F, Winter L, Schütz J, Bauer R, Thorweihe JM, Wenzel D, Schlötzer-Schrehardt U, Rasche V, Krsmanovic P, Katus HA, Rottbauer W, Just S, Müller OJ, Friedrich O, Meyer R, Herrmann H, Schrickel JW, Schröder R. Clemen CS, et al. Acta Neuropathol. 2015 Feb;129(2):297-315. doi: 10.1007/s00401-014-1363-2. Epub 2014 Nov 14. Acta Neuropathol. 2015. PMID: 25394388 Free PMC article.
Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice.
Durmuş H, Ayhan Ö, Çırak S, Deymeer F, Parman Y, Franke A, Eiber N, Chevessier F, Schlötzer-Schrehardt U, Clemen CS, Hashemolhosseini S, Schröder R, Hemmrich-Stanisak G, Tolun A, Serdaroğlu-Oflazer P. Durmuş H, et al. Neurology. 2016 Aug 23;87(8):799-805. doi: 10.1212/WNL.0000000000003004. Epub 2016 Jul 20. Neurology. 2016. PMID: 27440146
Imbalances in protein homeostasis caused by mutant desmin.
Winter L, Unger A, Berwanger C, Spörrer M, Türk M, Chevessier F, Strucksberg KH, Schlötzer-Schrehardt U, Wittig I, Goldmann WH, Marcus K, Linke WA, Clemen CS, Schröder R. Winter L, et al. Neuropathol Appl Neurobiol. 2019 Aug;45(5):476-494. doi: 10.1111/nan.12516. Epub 2018 Sep 26. Neuropathol Appl Neurobiol. 2019. PMID: 30179276
Dual Functional States of R406W-Desmin Assembly Complexes Cause Cardiomyopathy With Severe Intercalated Disc Derangement in Humans and in Knock-In Mice.
Herrmann H, Cabet E, Chevalier NR, Moosmann J, Schultheis D, Haas J, Schowalter M, Berwanger C, Weyerer V, Agaimy A, Meder B, Müller OJ, Katus HA, Schlötzer-Schrehardt U, Vicart P, Ferreiro A, Dittrich S, Clemen CS, Lilienbaum A, Schröder R. Herrmann H, et al. Circulation. 2020 Dec;142(22):2155-2171. doi: 10.1161/CIRCULATIONAHA.120.050218. Epub 2020 Oct 7. Circulation. 2020. PMID: 33023321 Free article.
Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis.
Elsnicova B, Hornikova D, Tibenska V, Kolar D, Tlapakova T, Schmid B, Mallek M, Eggers B, Schlötzer-Schrehardt U, Peeva V, Berwanger C, Eberhard B, Durmuş H, Schultheis D, Holtzhausen C, Schork K, Marcus K, Jordan J, Lücke T, van der Ven PFM, Schröder R, Clemen CS, Zurmanova JM. Elsnicova B, et al. Int J Mol Sci. 2022 Oct 10;23(19):12020. doi: 10.3390/ijms231912020. Int J Mol Sci. 2022. PMID: 36233322 Free PMC article.
Variants in ASB10 are associated with open-angle glaucoma.
Pasutto F, Keller KE, Weisschuh N, Sticht H, Samples JR, Yang YF, Zenkel M, Schlötzer-Schrehardt U, Mardin CY, Frezzotti P, Edmunds B, Kramer PL, Gramer E, Reis A, Acott TS, Wirtz MK. Pasutto F, et al. Hum Mol Genet. 2012 Mar 15;21(6):1336-49. doi: 10.1093/hmg/ddr572. Epub 2011 Dec 8. Hum Mol Genet. 2012. PMID: 22156576 Free PMC article.
341 results