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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: unger a. 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
Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation.
Schuld J, Orfanos Z, Chevessier F, Eggers B, Heil L, Uszkoreit J, Unger A, Kirfel G, van der Ven PFM, Marcus K, Linke WA, Clemen CS, Schröder R, Fürst DO. Schuld J, et al. Among authors: unger a. Acta Neuropathol Commun. 2020 Sep 4;8(1):154. doi: 10.1186/s40478-020-01001-9. Acta Neuropathol Commun. 2020. PMID: 32887649 Free PMC article.
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. Among authors: unger a. Neuropathol Appl Neurobiol. 2019 Aug;45(5):476-494. doi: 10.1111/nan.12516. Epub 2018 Sep 26. Neuropathol Appl Neurobiol. 2019. PMID: 30179276
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. 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: unger a. 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.
Overexpression of human BAG3P209L in mice causes restrictive cardiomyopathy.
Kimura K, Ooms A, Graf-Riesen K, Kuppusamy M, Unger A, Schuld J, Daerr J, Lother A, Geisen C, Hein L, Takahashi S, Li G, Röll W, Bloch W, van der Ven PFM, Linke WA, Wu SM, Huesgen PF, Höhfeld J, Fürst DO, Fleischmann BK, Hesse M. Kimura K, et al. Among authors: unger a. Nat Commun. 2021 Jun 11;12(1):3575. doi: 10.1038/s41467-021-23858-7. Nat Commun. 2021. PMID: 34117258 Free PMC article.
361 results