Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome

Cardiac ryanodine receptor calcium release deficiency syndrome

(2021) Bo Sun et al.   Science Translational Medicine

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families

(2020) Martin K. Stiles et al.   HEART RHYTHM

Implantable cardioverter-defibrillators in previously undiagnosed patients with catecholaminergic polymorphic ventricular tachycardia resuscitated from sudden cardiac arrest

(2019) Christian van der Werf et al.   EUROPEAN HEART JOURNAL

The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry

(2017) Thomas M Roston et al.   EUROPACE

Suppression-of-function mutations in the cardiac ryanodine receptor: Emerging evidence for a novel arrhythmia syndrome?

(2017) Thomas M. Roston et al.   HEART RHYTHM

A type 2 ryanodine receptor variant associated with reduced Ca2+ release and short-coupled torsades de pointes ventricular arrhythmia

(2017) Yusuke Fujii et al.   HEART RHYTHM

A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia

(2017) Thomas M. Roston et al.   JOURNAL OF ELECTROCARDIOLOGY

Ryanodine receptors under the magnifying lens: Insights and limitations of cryo-electron microscopy and X-ray crystallography studies

(2016) Zhiguang Yuchi et al.   CELL CALCIUM

Catecholaminergic Polymorphic Ventricular Tachycardia in Children

(2015) Thomas M. Roston et al.   Circulation-Arrhythmia and Electrophysiology

Arrhythmogenesis in a catecholaminergic polymorphic ventricular tachycardia mutation that depresses ryanodine receptor function

(2015) Yan-Ting Zhao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The ryanodine receptor store-sensing gate controls Ca2+ waves and Ca2+-triggered arrhythmias

(2014) Wenqian Chen et al.   NATURE MEDICINE

Ryanodine Receptor Mutations Presenting as Idiopathic Ventricular Fibrillation: A Report on Two Novel Familial Compound Mutations, c.6224T>C and c.13781A>G, With the Clinical Presentation of Idiopathic Ventricular Fibrillation

(2014) Christian Paech et al.   PEDIATRIC CARDIOLOGY

HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes

(2013) Silvia G. Priori et al.   HEART RHYTHM

Inherited Dysfunction of Sarcoplasmic Reticulum Ca 2+ Handling and Arrhythmogenesis

(2011) Silvia G. Priori et al.   CIRCULATION RESEARCH

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies

(2011) Michael J. Ackerman et al.   HEART RHYTHM