Associated Papers
Arrhythmic Risk and Clinical Features in Catecholaminergic Polymorphic Ventricular Tachycardia: Results From a Multicenter Study in Korea.
Cho MJ et al.
The American Journal of Cardiology, 2025
RYR2 Variants in Catecholaminergic Polymorphic Ventricular Tachycardia Patients: Insights From Protein Structure and Clinical Data.
Chang A et al.
Circulation. Arrhythmia and Electrophysiology, 2025
Genetic and clinical characteristics of catecholaminergic polymorphic ventricular tachycardia in a Taiwanese nationwide cohort.
Hsu GC et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
The Role of RyR2 Mutations in Congenital Heart Diseases: Insights Into Cardiac Electrophysiological Mechanisms.
Lv T et al.
Journal of Cardiovascular Electrophysiology, 2025
Clinical and genetic characteristics of catecholaminergic polymorphic ventricular tachycardia combined with left ventricular non-compaction.
Xu B et al.
Cardiology in the Young, 2024
Location of ryanodine receptor type 2 mutation predicts age of onset of sudden death in catecholaminergic polymorphic ventricular tachycardia - A systematic review and meta-analysis of case-based literature.
Beqaj H et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
RYR2 receptor gene mutation associated with catecholaminergic polymorphic ventricular tachycardia in children: a case report & literature review.
Abdullah NM et al.
Translational Pediatrics, 2024
Gene Therapy for Catecholaminergic Polymorphic Ventricular Tachycardia.
Pérez PR et al.
Heart, Lung & Circulation, 2023
Clinical Characteristics, Genetic Basis and Healthcare Resource Utilisation and Costs in Patients with Catecholaminergic Polymorphic Ventricular Tachycardia: A Retrospective Cohort Study.
Chung CT et al.
Reviews in Cardiovascular Medicine, 2022
Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia from China: A Systematic Review.
Leung J et al.
Life (basel, Switzerland), 2022
Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1.
Shimamoto K et al.
Heart (british Cardiac Society), 2022
Outcomes of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia Treated With β-Blockers.
Mazzanti A et al.
Jama Cardiology, 2022
"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
Sleiman Y et al.
Cell Death & Disease, 2021
Correction: Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients.
Ohno S et al.
Plos One, 2021
Catecholaminergic polymorphic ventricular tachycardia due to de novo RyR2 mutation: recreational cycling as a trigger of lethal arrhythmias.
Gallegos-Cortez A et al.
Archives of Medical Science : Ams, 2020
Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.
Brodehl A et al.
International Journal of Molecular Sciences, 2019
Gene Therapy for Catecholaminergic Polymorphic Ventricular Tachycardia by Inhibition of Ca2+/Calmodulin-Dependent Kinase II.
Bezzerides VJ et al.
Circulation, 2019
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.
Raju H et al.
Bmc Cardiovascular Disorders, 2019
Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience.
Mak CM et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2018
Bradycardia Is a Specific Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia Induced by RYR2 Mutations.
Miyata K et al.
Internal Medicine (tokyo, Japan), 2018
Pathogenic mechanism of a catecholaminergic polymorphic ventricular tachycardia causing-mutation in cardiac calcium release channel RyR2.
Xiong J et al.
Journal of Molecular and Cellular Cardiology, 2018
Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation.
Kapplinger JD et al.
Circulation. Genomic and Precision Medicine, 2018
Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.
Lahrouchi N et al.
Journal of the American College of Cardiology, 2017
Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals.
Landstrom AP et al.
Circulation. Arrhythmia and Electrophysiology, 2017
Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias.
Xiao Z et al.
The Journal of Biological Chemistry, 2016
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Associated With Ryanodine Receptor (RyR2) Gene Mutations - Long-Term Prognosis After Initiation of Medical Treatment.
Kawata H et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2016
Clinical and genetic profile of catecholaminergic polymorphic ventricular tachycardia in Hong Kong Chinese children.
Yu TC et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients.
Ohno S et al.
Plos One, 2015
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.
Jabbari J et al.
Circulation. Cardiovascular Genetics, 2013
Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan.
Kawamura M et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2013
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.
Medeiros-Domingo A et al.
Journal of the American College of Cardiology, 2009
Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia.
Wilde AA et al.
The New England Journal of Medicine, 2008
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007
Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death.
Jiang D et al.
Circulation Research, 2005
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.
Postma AV et al.
Journal of Medical Genetics, 2005
Abnormal ryanodine receptor function in heart failure.
Yano M et al.
Pharmacology & Therapeutics, 2005
Catecholaminergic polymorphic ventricular tachycardia: recent mechanistic insights.
Kontula K et al.
Cardiovascular Research, 2005
Sudden unexplained death caused by cardiac ryanodine receptor (RyR2) mutations.
Wehrens XH et al.
Mayo Clinic Proceedings, 2004
Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms.
Laitinen PJ et al.
European Journal of Human Genetics : Ejhg, 2003
Three-dimensional reconstruction of the recombinant type 2 ryanodine receptor and localization of its divergent region 1.
Liu Z et al.
The Journal of Biological Chemistry, 2002
Clinical implications of cardiac ryanodine receptor/calcium release channel mutations linked to sudden cardiac death.
Marks AR
Circulation, 2002
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.
Priori SG et al.
Circulation, 2002