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Page 1
Mutations in sarcomere protein genes in left ventricular noncompaction.
Klaassen S, Probst S, Oechslin E, Gerull B, Krings G, Schuler P, Greutmann M, Hürlimann D, Yegitbasi M, Pons L, Gramlich M, Drenckhahn JD, Heuser A, Berger F, Jenni R, Thierfelder L. Klaassen S, et al. Among authors: gramlich m. Circulation. 2008 Jun 3;117(22):2893-901. doi: 10.1161/CIRCULATIONAHA.107.746164. Epub 2008 May 27. Circulation. 2008. PMID: 18506004
A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.
Posch MG, Gramlich M, Sunde M, Schmitt KR, Lee SH, Richter S, Kersten A, Perrot A, Panek AN, Al Khatib IH, Nemer G, Mégarbané A, Dietz R, Stiller B, Berger F, Harvey RP, Ozcelik C. Posch MG, et al. Among authors: gramlich m. J Med Genet. 2010 Apr;47(4):230-5. doi: 10.1136/jmg.2009.069997. Epub 2009 Sep 16. J Med Genet. 2010. PMID: 19762328 Free PMC article.
A novel titin mutation in adult-onset familial dilated cardiomyopathy.
Yoskovitz G, Peled Y, Gramlich M, Lahat H, Resnik-Wolf H, Feinberg MS, Afek A, Pras E, Arad M, Gerull B, Freimark D. Yoskovitz G, et al. Among authors: gramlich m. Am J Cardiol. 2012 Jun 1;109(11):1644-50. doi: 10.1016/j.amjcard.2012.01.392. Epub 2012 Apr 3. Am J Cardiol. 2012. PMID: 22475360
Titin mutation in familial restrictive cardiomyopathy.
Peled Y, Gramlich M, Yoskovitz G, Feinberg MS, Afek A, Polak-Charcon S, Pras E, Sela BA, Konen E, Weissbrod O, Geiger D, Gordon PM, Thierfelder L, Freimark D, Gerull B, Arad M. Peled Y, et al. Among authors: gramlich m. Int J Cardiol. 2014 Jan 15;171(1):24-30. doi: 10.1016/j.ijcard.2013.11.037. Epub 2013 Nov 25. Int J Cardiol. 2014. PMID: 24315344
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.
79 results