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207 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. Among authors: linke wa. 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
Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy.
Friedrich FW, Wilding BR, Reischmann S, Crocini C, Lang P, Charron P, Müller OJ, McGrath MJ, Vollert I, Hansen A, Linke WA, Hengstenberg C, Bonne G, Morner S, Wichter T, Madeira H, Arbustini E, Eschenhagen T, Mitchell CA, Isnard R, Carrier L. Friedrich FW, et al. Among authors: linke wa. Hum Mol Genet. 2012 Jul 15;21(14):3237-54. doi: 10.1093/hmg/dds157. Epub 2012 Apr 20. Hum Mol Genet. 2012. PMID: 22523091
FHL2 expression and variants in hypertrophic cardiomyopathy.
Friedrich FW, Reischmann S, Schwalm A, Unger A, Ramanujam D, Münch J, Müller OJ, Hengstenberg C, Galve E, Charron P, Linke WA, Engelhardt S, Patten M, Richard P, van der Velden J, Eschenhagen T, Isnard R, Carrier L. Friedrich FW, et al. Among authors: linke wa. Basic Res Cardiol. 2014;109(6):451. doi: 10.1007/s00395-014-0451-8. Epub 2014 Oct 31. Basic Res Cardiol. 2014. PMID: 25358972 Free PMC article.
Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.
Brodehl A, Dieding M, Biere N, Unger A, Klauke B, Walhorn V, Gummert J, Schulz U, Linke WA, Gerull B, Vorgert M, Anselmetti D, Milting H. Brodehl A, et al. Among authors: linke wa. J Mol Cell Cardiol. 2016 Feb;91:207-14. doi: 10.1016/j.yjmcc.2015.12.015. Epub 2015 Dec 23. J Mol Cell Cardiol. 2016. PMID: 26724190
Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.
Unger A, Dekomien G, Güttsches A, Dreps T, Kley R, Tegenthoff M, Ferbert A, Weis J, Heyer C, Linke WA, Martinez-Carrera L, Storbeck M, Wirth B, Hoffjan S, Vorgerd M. Unger A, et al. Among authors: linke wa. Neurology. 2016 Nov 22;87(21):2235-2243. doi: 10.1212/WNL.0000000000003360. Epub 2016 Oct 26. Neurology. 2016. PMID: 27784775
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Storbeck M, Horsberg Eriksen B, Unger A, Hölker I, Aukrust I, Martínez-Carrera LA, Linke WA, Ferbert A, Heller R, Vorgerd M, Houge G, Wirth B. Storbeck M, et al. Among authors: linke wa. Eur J Hum Genet. 2017 Sep;25(9):1040-1048. doi: 10.1038/ejhg.2017.98. Epub 2017 Jun 21. Eur J Hum Genet. 2017. PMID: 28635954 Free PMC article.
207 results