M
Marcel M.A.M. Mannens
Researcher at University of Amsterdam
Publications - 211
Citations - 12441
Marcel M.A.M. Mannens is an academic researcher from University of Amsterdam. The author has contributed to research in topics: Gene & DNA methylation. The author has an hindex of 58, co-authored 194 publications receiving 11287 citations. Previous affiliations of Marcel M.A.M. Mannens include French Institute of Health and Medical Research & Academic Medical Center.
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Journal ArticleDOI
Cardiac conduction defects associate with mutations in SCN5A.
Jean-Jacques Schott,C Alshinawi,Florence Kyndt,Vincent Probst,Theo M. Hoorntje,MM Hulsbeek,Arthur A.M. Wilde,Denis Escande,Marcel M.A.M. Mannens,H. Le Marec +9 more
Journal ArticleDOI
Mutation in the KCNQ1 Gene Leading to the Short QT-Interval Syndrome
Chloé Bellocq,Antoni C.G. van Ginneken,C. R. Bezzina,Mariel Alders,Denis Escande,Marcel M.A.M. Mannens,Isabelle Baró,Arthur A. M. Wilde +7 more
TL;DR: It is demonstrated that the electrocardiographic short QT-interval syndrome is genetically heterogeneous and can also be caused by mutation in the KCNQ1 gene, which is linked to gain-of-function mutation in KCNH2.
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Absence of Calsequestrin 2 Causes Severe Forms of Catecholaminergic Polymorphic Ventricular Tachycardia
Alex V. Postma,Isabelle Denjoy,Theo M. Hoorntje,Jean-Marc Lupoglazoff,Antoine Da Costa,Pascale Sebillon,Marcel M.A.M. Mannens,Arthur A.M. Wilde,Pascale Guicheney +8 more
TL;DR: It is suggested that CASQ2 mutations are more common than previously thought and produce a severe form of CPVT, which is a rare arrhythmogenic disorder characterized by syncopal events and sudden cardiac death at a young age during physical stress or emotion.
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The human chitotriosidase gene - Nature of inherited enzyme deficiency
Rolf G. Boot,G. H. Renkema,Marri Verhoek,Anneke Strijland,Jet Bliek,T.M.A.M.O. de Meulemeester,Marcel M.A.M. Mannens,Johannes M. F. G. Aerts +7 more
TL;DR: The observed carrier frequency of about 35% indicates that the duplication is the predominant cause of chitotriosidase deficiency, and the presence of the duplication in individuals from various ethnic groups suggests that this mutation is relatively old.
Journal ArticleDOI
Plakophilin-2 Mutations Are the Major Determinant of Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
J. Peter van Tintelen,Mark M. Entius,Zahurul A. Bhuiyan,Roselie Jongbloed,Ans C.P. Wiesfeld,Arthur A.M. Wilde,Jasper J. van der Smagt,Ludolf G. Boven,Marcel M.A.M. Mannens,Irene M. van Langen,Robert M. W. Hofstra,Luuk C. Otterspoor,Pieter A. Doevendans,Luz-Maria Rodriguez,Isabelle C. Van Gelder,Richard N.W. Hauer +15 more
TL;DR: In this paper, mutations in the plakophilin-2 gene (PKP2) were found in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC).