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European heart rhythm association (EHRA)/heart rhythm society (HRS)/Asia pacific heart rhythm society (APHRS)/latin American heart rhythm society (LAHRS) expert …
Purpose Genetic testing has advanced significantly since the publication of the 2011
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the …
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the …
2024 HRS expert consensus statement on arrhythmias in the athlete: evaluation, treatment, and return to play
R Lampert, EH Chung, MJ Ackerman, AR Arroyo… - Heart Rhythm, 2024 - Elsevier
Youth and adult participation in sports continues to increase, and athletes may be
diagnosed with potentially arrhythmogenic cardiac conditions. This international …
diagnosed with potentially arrhythmogenic cardiac conditions. This international …
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death
Aims Catecholaminergic polymorphic ventricular tachycardia (CPVT) and short QT
syndrome (SQTS) are inherited arrhythmogenic disorders that can cause sudden death …
syndrome (SQTS) are inherited arrhythmogenic disorders that can cause sudden death …
Cardiac ryanodine receptor calcium release deficiency syndrome
Cardiac ryanodine receptor (RyR2) gain-of-function mutations cause catecholaminergic
polymorphic ventricular tachycardia, a condition characterized by prominent ventricular …
polymorphic ventricular tachycardia, a condition characterized by prominent ventricular …
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy
Background International guidelines for variant interpretation in Mendelian disease set
stringent criteria to report a variant as (likely) pathogenic, prioritising control of false-positive …
stringent criteria to report a variant as (likely) pathogenic, prioritising control of false-positive …
RYR2-ryanodinopathies: from calcium overload to calcium deficiency
C Steinberg, TM Roston, C van der Werf, S Sanatani… - Europace, 2023 - academic.oup.com
The sarcoplasmatic reticulum (SR) cardiac ryanodine receptor/calcium release channel
RyR2 is an essential regulator of cardiac excitation–contraction coupling and intracellular …
RyR2 is an essential regulator of cardiac excitation–contraction coupling and intracellular …
Precision Medicine in Catecholaminergic Polymorphic Ventricular Tachycardia: JACC Focus Seminar 5/5
In this final of a 5-part Focus Seminar series on precision medicine, we focus on
catecholaminergic polymorphic ventricular tachycardia (CPVT). This focus on CPVT allows …
catecholaminergic polymorphic ventricular tachycardia (CPVT). This focus on CPVT allows …
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies
RYR1 encodes the type 1 ryanodine receptor, an intracellular calcium release channel
(RyR1) on the skeletal muscle sarcoplasmic reticulum (SR). Pathogenic RYR1 variations …
(RyR1) on the skeletal muscle sarcoplasmic reticulum (SR). Pathogenic RYR1 variations …
Outcomes of patients with catecholaminergic polymorphic ventricular tachycardia treated with β-blockers
Importance Patients with catecholaminergic polymorphic ventricular tachycardia (CPVT)
may experience life-threatening arrhythmic events (LTAEs) despite β-blocker treatment …
may experience life-threatening arrhythmic events (LTAEs) despite β-blocker treatment …
Clinical and functional characterization of ryanodine receptor 2 variants implicated in calcium-release deficiency syndrome
Importance Calcium-release deficiency syndrome (CRDS), which is caused by loss-of-
function variants in cardiac ryanodine receptor 2 (RyR2), is an emerging cause of ventricular …
function variants in cardiac ryanodine receptor 2 (RyR2), is an emerging cause of ventricular …