Associated Papers
EPAS1 induction drives myocardial degeneration in desmoplakin-cardiomyopathy.
Kyriakopoulou E et al.
Iscience, 2025
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Janssen AEJ et al.
Nature Communications, 2024
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.
Verdonschot JAJ et al.
Circulation. Genomic and Precision Medicine, 2024
A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.
Nagyova E et al.
Journal of Cardiovascular Translational Research, 2023
The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.
Bos TA et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2023
Innate Immune Signaling in Hearts and Buccal Mucosa Cells of Patients with Arrhythmogenic Cardiomyopathy.
Bueto-Beni C et al.
Biorxiv : the Preprint Server for Biology, 2023
Desmosomal protein degradation as an underlying cause of arrhythmogenic cardiomyopathy.
Tsui H et al.
Science Translational Medicine, 2023
Therapeutic efficacy of AAV-mediated restoration of PKP2 in arrhythmogenic cardiomyopathy.
Kyriakopoulou E et al.
Nature Cardiovascular Research, 2023
Plakophilin-2 truncating variants impair cardiac contractility by disrupting sarcomere stability and organization.
Zhang K et al.
Science Advances, 2021
Epicardial differentiation drives fibro-fatty remodeling in arrhythmogenic cardiomyopathy.
Kohela A et al.
Science Translational Medicine, 2021
P62-positive aggregates are homogenously distributed in the myocardium and associated with the type of mutation in genetic cardiomyopathy.
van der Klooster ZJ et al.
Journal of Cellular and Molecular Medicine, 2021
Arrhythmogenic Right Ventricular Cardiomyopathy in a Pediatric Patient.
Roudijk RW et al.
Jacc. Case Reports, 2020
Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo.
van Lint FHM et al.
Circulation. Genomic and Precision Medicine, 2019
Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.
Headrick AT et al.
Molecular Genetics & Genomic Medicine, 2019
No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.
Hoorntje ET et al.
Plos One, 2018
Prolonged Electromechanical Interval Unmasks Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in the Subclinical Stage.
Mast TP et al.
Journal of Cardiovascular Electrophysiology, 2016
Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Groeneweg JA et al.
Heart Rhythm, 2014
Arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management.
Groeneweg JA et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2014
Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers.
Groeneweg JA et al.
The American Journal of Cardiology, 2013
Novel plakophilin2 mutation: three-generation family with arrhythmogenic right ventricular cardiomyopathy.
Aneq MÅ et al.
Scandinavian Cardiovascular Journal : Scj, 2012
Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy.
Rajkumar R et al.
Bmc Medical Genetics, 2012
Recurrent and founder mutations in the Netherlands : Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia.
van der Zwaag PA et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2010
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.
Bhuiyan ZA et al.
Circulation. Cardiovascular Genetics, 2009
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.
van Tintelen JP et al.
Circulation, 2006