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Disease Models & Mechanisms|October 9, 2020
Identification of <i>MYOM2</i> as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the <i>Drosophila</i> heartEmilie Auxerre-Plantié, Tanja Nielsen, Marcel Grunert, et al.Journal of Medical Genetics|January 18, 2011
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practiceSiv Fokstuen, Analia Munoz, Paola Melacini, et al.European Journal of Human Genetics : EJHG|March 7, 2013
Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathyRoberta Roncarati, Chiara Viviani Anselmi, Peter Krawitz, et al.American Journal of Physiology. Heart and Circulatory Physiology|November 20, 2004
Hypertrophic cardiomyopathy-related beta-myosin mutations cause highly variable calcium sensitivity with functional imbalances among individual muscle cellsSebastian E Kirschner, Edgar Becker, Massimo Antognozzi, et al.Archives of Medical Science : AMS|May 18, 2016
Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathiesAndreas Perrot, Pavol Tomasov, Eric Villard, et al.Journal of Molecular Medicine (Berlin, Germany)|April 28, 2005
Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathyAndreas Perrot, Hajo Schmidt-Traub, Bernard Hoffmann, et al.European Heart Journal|September 9, 2010
Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial DiseasesPhilippe Charron, Michael Arad, Eloisa Arbustini, et al.Plos One|December 24, 2011
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defectsMaximilian G Posch, Stephan Waldmuller, Melanie Müller, et al.Basic Research in Cardiology|September 17, 2008
Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathyAndreas Perrot, Shwan Hussein, Volker Ruppert, et al.Journal of Muscle Research and Cell Motility|November 5, 2017
Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathyJudith Montag, Mandy Syring, Julia Rose, et al.Pageof 9