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Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
Hedberg-Oldfors C, Meyer R, Nolte K, Abdul Rahim Y, Lindberg C, Karason K, Thuestad IJ, Visuttijai K, Geijer M, Begemann M, Kraft F, Lausberg E, Hitpass L, Götzl R, Luna EJ, Lochmüller H, Koschmieder S, Gramlich M, Gess B, Elbracht M, Weis J, Kurth I, Oldfors A, Knopp C. Hedberg-Oldfors C, et al. Among authors: gramlich m. Brain. 2020 Aug 1;143(8):2406-2420. doi: 10.1093/brain/awaa206. Brain. 2020. PMID: 32779703 Free PMC article.
Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy.
Gramlich M, Pane LS, Zhou Q, Chen Z, Murgia M, Schötterl S, Goedel A, Metzger K, Brade T, Parrotta E, Schaller M, Gerull B, Thierfelder L, Aartsma-Rus A, Labeit S, Atherton JJ, McGaughran J, Harvey RP, Sinnecker D, Mann M, Laugwitz KL, Gawaz MP, Moretti A. Gramlich M, et al. EMBO Mol Med. 2015 May;7(5):562-76. doi: 10.15252/emmm.201505047. EMBO Mol Med. 2015. PMID: 25759365 Free PMC article.
76 results