Associated Papers
RYR2 Variants in Catecholaminergic Polymorphic Ventricular Tachycardia Patients: Insights From Protein Structure and Clinical Data.
Chang A et al.
Circulation. Arrhythmia and Electrophysiology, 2025
Identification of Mutations of the RYR2 in Sudden Infant Death Syndrome.
Son MJ et al.
Journal of Korean Medical Science, 2025
Genetic generalized epilepsy with catecholaminergic polymorphic ventricular tachycardia complicated by ryanodine receptor 2 variant: A case report.
Konomatsu K et al.
Seizure, 2024
Pathological and Comprehensive Genetic Investigation of Autopsy Cases of Idiopathic Bradyarrhythmia.
Hata Y et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2022
Cytosolic Ca2+-dependent Ca2+ release activity primarily determines the ER Ca2+ level in cells expressing the CPVT-linked mutant RYR2.
Kurebayashi N et al.
The Journal of General Physiology, 2022
"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
Sleiman Y et al.
Cell Death & Disease, 2021
Novel Variants in the CLCN1, RYR2, and DCTN1 Found in Elderly Japanese Dementia Patients: A Case Series.
Hori A et al.
Geriatrics (basel, Switzerland), 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Genomic analysis identifies masqueraders of full-term cerebral palsy.
Takezawa Y et al.
Annals of Clinical and Translational Neurology, 2018
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
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
A novel cardiac ryanodine receptor gene (RyR2) mutation in an athlete with aborted sudden cardiac death: a case of adult-onset catecholaminergic polymorphic ventricular tachycardia.
Arakawa J et al.
Heart and Vessels, 2015
Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan.
Kawamura M et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2013