| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1015609034 |
| P356 | DOI | 10.1038/NRCARDIO.2012.93 |
| P698 | PubMed publication ID | 22733215 |
| P2093 | author name string | Carlo Napolitano | |
| Marco Denegri | |||
| Silvia G Priori | |||
| Luigi Venetucci | |||
| P2860 | cites work | PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts | Q22254160 |
| Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2) | Q24290749 | ||
| Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features | Q24294249 | ||
| Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak | Q24296910 | ||
| A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene | Q24297875 | ||
| Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia | Q24299780 | ||
| Calsequestrin mutant D307H exhibits depressed binding to its protein targets and a depressed response to calcium | Q24306830 | ||
| Kinetics of FKBP12.6 binding to ryanodine receptors in permeabilized cardiac myocytes and effects on Ca sparks | Q24308765 | ||
| Abnormal interactions of calsequestrin with the ryanodine receptor calcium release channel complex linked to exercise-induced sudden cardiac death | Q24315099 | ||
| Ryanodine receptor mutations associated with stress-induced ventricular tachycardia mediate increased calcium release in stimulated cardiomyocytes | Q24315860 | ||
| The role of calsequestrin, triadin, and junctin in conferring cardiac ryanodine receptor responsiveness to luminal calcium | Q24319842 | ||
| Role of Ca2+/calmodulin-dependent protein kinase (CaMK) in excitation-contraction coupling in the heart | Q24323983 | ||
| Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations | Q24529526 | ||
| Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans | Q24608179 | ||
| Novel functional properties of Ca(2+) channel beta subunits revealed by their expression in adult rat heart cells | Q24642102 | ||
| Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death | Q24675134 | ||
| Crystal structure of calsequestrin from rabbit skeletal muscle sarcoplasmic reticulum | Q27758879 | ||
| Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism | Q28117072 | ||
| Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6) | Q28117761 | ||
| A single Na(+) channel mutation causing both long-QT and Brugada syndromes | Q28139738 | ||
| Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia | Q28142708 | ||
| FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death | Q28183817 | ||
| Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia | Q28201561 | ||
| A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel | Q28204838 | ||
| Cardiac excitation-contraction coupling | Q28216347 | ||
| Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia | Q28235110 | ||
| Voltage-gated calcium channels | Q28242997 | ||
| Cellular basis of triggered arrhythmias in heart failure | Q28251279 | ||
| Calcium sparks: elementary events underlying excitation-contraction coupling in heart muscle | Q28256108 | ||
| 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 [...] | Q28265202 | ||
| RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR) | Q28278038 | ||
| 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 | Q28278262 | ||
| Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia | Q28279395 | ||
| Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis | Q28308142 | ||
| The catecholaminergic polymorphic ventricular tachycardia mutation R33Q disrupts the N-terminal structural motif that regulates reversible calsequestrin polymerization | Q28576166 | ||
| The calsequestrin mutation CASQ2D307H does not affect protein stability and targeting to the junctional sarcoplasmic reticulum but compromises its dynamic regulation of calcium buffering | Q28589131 | ||
| Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia | Q28589230 | ||
| The β Subunit of Voltage-Gated Ca2+Channels | Q30155988 | ||
| Mouse model of Timothy syndrome recapitulates triad of autistic traits. | Q30474075 | ||
| Catecholaminergic polymorphic ventricular tachycardia is caused by mutation-linked defective conformational regulation of the ryanodine receptor. | Q30494293 | ||
| Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome | Q30499663 | ||
| Short QT interval in clinical practice | Q37776345 | ||
| Risk of sudden death among young individuals with J waves and early repolarization: putting the evidence into perspective | Q37835930 | ||
| Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel | Q37849476 | ||
| J-wave syndromes. from cell to bedside | Q38810851 | ||
| Metabolism of flecainide | Q40169641 | ||
| Autoinhibitory control of the CaV1.2 channel by its proteolytically processed distal C-terminal domain. | Q40261237 | ||
| Functional Roles of Ca(v)1.3 (alpha(1D)) calcium channel in sinoatrial nodes: insight gained using gene-targeted null mutant mice | Q40730951 | ||
| Spontaneous Ca waves in ventricular myocytes from failing hearts depend on Ca(2+)-calmodulin-dependent protein kinase II. | Q40981831 | ||
| Single channel and 45Ca2+ flux measurements of the cardiac sarcoplasmic reticulum calcium channel | Q41158367 | ||
| The pathophysiological mechanism underlying Brugada syndrome: depolarization versus repolarization | Q41772555 | ||
| Ca2+/calmodulin-dependent protein kinase II phosphorylation regulates the cardiac ryanodine receptor | Q42622044 | ||
| Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. | Q43073409 | ||
| Na+-dependent SR Ca2+ overload induces arrhythmogenic events in mouse cardiomyocytes with a human CPVT mutation. | Q43191839 | ||
| Characteristics of recurrent ventricular fibrillation associated with inferolateral early repolarization role of drug therapy | Q43579754 | ||
| Short communication: flecainide exerts an antiarrhythmic effect in a mouse model of catecholaminergic polymorphic ventricular tachycardia by increasing the threshold for triggered activity. | Q44073503 | ||
| Luminal Ca2+ controls termination and refractory behavior of Ca2+-induced Ca2+ release in cardiac myocytes | Q44128029 | ||
| Protein kinase A phosphorylation of the cardiac calcium release channel (ryanodine receptor) in normal and failing hearts. Role of phosphatases and response to isoproterenol | Q44195414 | ||
| Comparison of the effect of class IA antiarrhythmic drugs on transmembrane potassium currents in rabbit ventricular myocytes | Q44372601 | ||
| Modulation of excitation-contraction coupling by isoproterenol in cardiomyocytes with controlled SR Ca2+ load and Ca2+ current trigger | Q44728656 | ||
| Viral gene transfer rescues arrhythmogenic phenotype and ultrastructural abnormalities in adult calsequestrin-null mice with inherited arrhythmias | Q45435698 | ||
| Unexpected structural and functional consequences of the R33Q homozygous mutation in cardiac calsequestrin: a complex arrhythmogenic cascade in a knock in mouse model | Q46516049 | ||
| The assembly of calcium release units in cardiac muscle | Q46644498 | ||
| Catecholaminergic polymorphic ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity of human cardiac calsequestrin | Q46654993 | ||
| Identification of target domains of the cardiac ryanodine receptor to correct channel disorder in failing hearts | Q46786268 | ||
| Ca2+/calmodulin-dependent protein kinase modulates cardiac ryanodine receptor phosphorylation and sarcoplasmic reticulum Ca2+ leak in heart failure | Q46790561 | ||
| Endoplasmic reticulum Ca2+ measurements reveal that the cardiac ryanodine receptor mutations linked to cardiac arrhythmia and sudden death alter the threshold for store-overload-induced Ca2+ release. | Q46841648 | ||
| Mutation in the KCNQ1 gene leading to the short QT-interval syndrome | Q47438291 | ||
| Ca2+ handling and sarcoplasmic reticulum Ca2+ content in isolated failing and nonfailing human myocardium | Q48749195 | ||
| Ryanodine receptor S2808 phosphorylation in heart failure: smoking gun or red herring. | Q50514893 | ||
| Sudden cardiac death despite an implantable cardioverter-defibrillator in a young female with catecholaminergic ventricular tachycardia. | Q51094959 | ||
| ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiolo | Q51137889 | ||
| The role of luminal Ca2+ in the generation of Ca2+ waves in rat ventricular myocytes. | Q51454588 | ||
| The effect of tetracaine on spontaneous Ca2+ release and sarcoplasmic reticulum calcium content in rat ventricular myocytes. | Q51538023 | ||
| Left cardiac sympathetic denervation for the treatment of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia using video-assisted thoracic surgery. | Q51636642 | ||
| The control of Ca release from the cardiac sarcoplasmic reticulum: regulation versus autoregulation. | Q53945781 | ||
| Regulation of the gating of the sheep cardiac sarcoplasmic reticulum Ca(2+)-release channel by luminal Ca2+. | Q54033992 | ||
| Ca2+ binding effects on protein conformation and protein interactions of canine cardiac calsequestrin. | Q54390040 | ||
| Calmodulin kinase II inhibition prevents arrhythmias in RyR2(R4496C+/-) mice with catecholaminergic polymorphic ventricular tachycardia. | Q54644396 | ||
| Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome | Q57922001 | ||
| Somatic mosaicism contributes to phenotypic variation in Timothy syndrome | Q57922098 | ||
| Increasing Ryanodine Receptor Open Probability Alone Does Not Produce Arrhythmogenic Calcium Waves | Q60182017 | ||
| The effects of low concentrations of caffeine on spontaneous Ca release in isolated rat ventricular myocytes | Q60182042 | ||
| Transient inward current underlying arrhythmogenic effects of cardiotonic steroids in Purkinje fibres | Q68251468 | ||
| Calcium sparks and [Ca2+]i waves in cardiac myocytes | Q71441523 | ||
| Comparison of sarcolemmal calcium channel current in rabbit and rat ventricular myocytes | Q71517395 | ||
| Relaxation in rabbit and rat cardiac cells: species-dependent differences in cellular mechanisms | Q72096800 | ||
| Effects of intracoronary acetylcholine and atropine on basal and dobutamine-stimulated left ventricular contractility | Q72708298 | ||
| Effects of [Ca2+]i, SR Ca2+ load, and rest on Ca2+ spark frequency in ventricular myocytes | Q73281592 | ||
| Sarcoplasmic reticulum Ca2+ content, L-type Ca2+ current and the Ca2+ transient in rat myocytes during beta-adrenergic stimulation | Q74017470 | ||
| Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: insights from a RyR2 R4496C knock-in mouse model | Q79851890 | ||
| K201 modulates excitation-contraction coupling and spontaneous Ca2+ release in normal adult rabbit ventricular cardiomyocytes | Q80650258 | ||
| Prevalence of early repolarization pattern in inferolateral leads in patients with Brugada syndrome | Q82977942 | ||
| High prevalence of early repolarization in short QT syndrome | Q83143226 | ||
| Beta-adrenergic modulation of arrhythmogenesis and identification of targeted sites of antiarrhythmic therapy in Timothy (LQT8) syndrome: a theoretical study | Q84779078 | ||
| Intravenous epinephrine infusion test in diagnosis of catecholaminergic polymorphic ventricular tachycardia | Q85005791 | ||
| Distinguishing "benign" from "malignant early repolarization": the value of the ST-segment morphology | Q95386754 | ||
| J-point elevation in survivors of primary ventricular fibrillation and matched control subjects: incidence and clinical significance | Q34858254 | ||
| Calcium cycling in congestive heart failure | Q34863566 | ||
| Mutation-linked defective interdomain interactions within ryanodine receptor cause aberrant Ca²⁺release leading to catecholaminergic polymorphic ventricular tachycardia. | Q35156823 | ||
| Putting out the fire: what terminates calcium-induced calcium release in cardiac muscle? | Q35756793 | ||
| Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies | Q35936858 | ||
| Cellular basis for the electrocardiographic and arrhythmic manifestations of Timothy syndrome: effects of ranolazine | Q35948315 | ||
| Loss of luminal Ca2+ activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden death | Q36156989 | ||
| Common molecular determinants of flecainide and lidocaine block of heart Na+ channels: evidence from experiments with neutral and quaternary flecainide analogues | Q36412399 | ||
| Therapy for the Brugada syndrome | Q36446444 | ||
| Luminal Ca2+ regulation of single cardiac ryanodine receptors: insights provided by calsequestrin and its mutants | Q36517742 | ||
| The early repolarization variant--normal or a marker of heart disease in certain subjects | Q36642947 | ||
| Ryanodine receptors and ventricular arrhythmias: emerging trends in mutations, mechanisms and therapies | Q36642953 | ||
| The control of calcium release in heart muscle | Q36703939 | ||
| The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels | Q36883128 | ||
| The sarcoplasmic reticulum and arrhythmogenic calcium release | Q37002270 | ||
| Sarcoplasmic reticulum Ca2+ leak in heart failure: mere observation or functional relevance? | Q37002277 | ||
| Adrenergic regulation of cardiac contractility does not involve phosphorylation of the cardiac ryanodine receptor at serine 2808 | Q37120202 | ||
| Targeted disruption of the voltage-dependent calcium channel alpha2/delta-1-subunit | Q37264390 | ||
| Sodium channel mutations and arrhythmias | Q37450777 | ||
| The QT interval: too long, too short or just right | Q37457545 | ||
| Beta-adrenergic receptor signaling in the heart: role of CaMKII. | Q37626164 | ||
| Left cardiac sympathetic denervation for the prevention of life-threatening arrhythmias: the surgical supraclavicular approach to cervicothoracic sympathectomy | Q37764398 | ||
| Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome | Q30529349 | ||
| Natural history of Brugada syndrome: insights for risk stratification and management | Q33147491 | ||
| Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. | Q33147854 | ||
| Efficacy of quinidine in high-risk patients with Brugada syndrome | Q33151791 | ||
| Pathophysiological mechanisms of Brugada syndrome: depolarization disorder, repolarization disorder, or more? | Q33152716 | ||
| Risk stratification of individuals with the Brugada electrocardiogram: a meta-analysis | Q33154041 | ||
| Verapamil decreases ventricular tachyarrhythmias in a patient with Timothy syndrome (LQT8). | Q33154114 | ||
| Acute and chronic management in patients with Brugada syndrome associated with electrical storm of ventricular fibrillation | Q33155202 | ||
| Sudden cardiac arrest associated with early repolarization | Q33156255 | ||
| A case of catecholaminergic polymorphic ventricular tachycardia caused by two calsequestrin 2 mutations | Q33156517 | ||
| Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome | Q33157277 | ||
| Long-term prognosis of patients diagnosed with Brugada syndrome: Results from the FINGER Brugada Syndrome Registry | Q33158291 | ||
| The short QT syndrome: proposed diagnostic criteria. | Q33159709 | ||
| Long-term follow-up of patients with short QT syndrome | Q33160301 | ||
| Risk stratification in Brugada syndrome: results of the PRELUDE (PRogrammed ELectrical stimUlation preDictive valuE) registry. | Q33160801 | ||
| Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients | Q33173888 | ||
| Flecainide inhibits arrhythmogenic Ca2+ waves by open state block of ryanodine receptor Ca2+ release channels and reduction of Ca2+ spark mass. | Q33618629 | ||
| The alpha2delta subunits of voltage-gated calcium channels form GPI-anchored proteins, a posttranslational modification essential for function | Q33667603 | ||
| Ca channels in cardiac myocytes: structure and function in Ca influx and intracellular Ca release | Q33758990 | ||
| Cellular basis for the Brugada syndrome and other mechanisms of arrhythmogenesis associated with ST-segment elevation | Q33876613 | ||
| Modulation of ryanodine receptor by luminal calcium and accessory proteins in health and cardiac disease | Q34008193 | ||
| Early repolarization: electrocardiographic phenotypes associated with favorable long-term outcome | Q34027142 | ||
| Short QT syndrome: from bench to bedside. | Q34102891 | ||
| In the RyR2(R4496C) mouse model of CPVT, β-adrenergic stimulation induces Ca waves by increasing SR Ca content and not by decreasing the threshold for Ca waves | Q34145105 | ||
| Regulation of cardiac muscle Ca2+ release channel by sarcoplasmic reticulum lumenal Ca2+ | Q34169317 | ||
| Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society joint position paper | Q34175202 | ||
| Right bundle branch block, persistent ST segment elevation and sudden cardiac death: A distinct clinical and electrocardiographic syndrome | Q34232976 | ||
| Sudden death associated with short-QT syndrome linked to mutations in HERG. | Q34283788 | ||
| Short QT syndrome: pharmacological treatment | Q34314532 | ||
| Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. | Q34385271 | ||
| Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. | Q34395488 | ||
| Flecainide therapy reduces exercise-induced ventricular arrhythmias in patients with catecholaminergic polymorphic ventricular tachycardia | Q34629553 | ||
| Primary structure and functional expression of the cardiac dihydropyridine-sensitive calcium channel | Q34661325 | ||
| Deletion of the distal C terminus of CaV1.2 channels leads to loss of beta-adrenergic regulation and heart failure in vivo | Q34752512 | ||
| P433 | issue | 10 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | pathophysiology | Q1135939 |
| P304 | page(s) | 561-575 | |
| P577 | publication date | 2012-06-26 | |
| P1433 | published in | Nature Reviews Cardiology | Q2108444 |
| P1476 | title | Inherited calcium channelopathies in the pathophysiology of arrhythmias | |
| P478 | volume | 9 |
| Q64100474 | Allicin disrupts cardiac Cav1.2 channels via trafficking |
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| Q35279976 | Arrhythmogenesis in a catecholaminergic polymorphic ventricular tachycardia mutation that depresses ryanodine receptor function |
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| Q88579783 | CRISPR/Cas9 Gene editing of RyR2 in human stem cell-derived cardiomyocytes provides a novel approach in investigating dysfunctional Ca2+ signaling |
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| Q90248065 | Calcium Handling Defects and Cardiac Arrhythmia Syndromes |
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| Q37338829 | Calcium/calmodulin-dependent kinase II and nitric oxide synthase 1-dependent modulation of ryanodine receptors during β-adrenergic stimulation is restricted to the dyadic cleft |
| Q38105647 | Calmodulin in a heartbeat |
| Q28066019 | Cardiac disease and arrhythmogenesis: Mechanistic insights from mouse models |
| Q38225937 | Cardiac sodium channels and inherited electrophysiological disorders: an update on the pharmacotherapy |
| Q36109025 | Cardiomyocyte-Specific Ablation of Med1 Subunit of the Mediator Complex Causes Lethal Dilated Cardiomyopathy in Mice. |
| Q42128337 | Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT). |
| Q37557193 | Compound loss of muscleblind-like function in myotonic dystrophy |
| Q42372853 | Computational Cardiac Modeling Reveals Mechanisms of Ventricular Arrhythmogenesis in Long QT Syndrome Type 8: CACNA1C R858H Mutation Linked to Ventricular Fibrillation |
| Q36992757 | Constitutive Intracellular Na+ Excess in Purkinje Cells Promotes Arrhythmogenesis at Lower Levels of Stress Than Ventricular Myocytes From Mice With Catecholaminergic Polymorphic Ventricular Tachycardia |
| Q21144861 | De novo mutations in moderate or severe intellectual disability |
| Q34581173 | Decreased polycystin 2 expression alters calcium-contraction coupling and changes β-adrenergic signaling pathways |
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| Q36966962 | Enhanced currents through L-type calcium channels in cardiomyocytes disturb the electrophysiology of the dystrophic heart. |
| Q54179932 | Epigenome-wide association study reveals differential DNA methylation in individuals with a history of myocardial infarction. |
| Q34396850 | Essential role of the zinc finger transcription factor Casz1 for mammalian cardiac morphogenesis and development |
| Q58010261 | Executive Summary: HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes |
| Q45027885 | Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes |
| Q28115009 | Functional characterization of CaVα2δ mutations associated with sudden cardiac death |
| Q52714512 | Gene Transfer of Engineered Calmodulin Alleviates Ventricular Arrhythmias in a Calsequestrin-Associated Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia. |
| Q35152139 | Generation and characterization of a mouse model harboring the exon-3 deletion in the cardiac ryanodine receptor |
| Q58010282 | HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes |
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| Q41664792 | Human pluripotent stem cell models of cardiac disease: from mechanisms to therapies |
| Q51066728 | Impact of RyR2 potentiation on myocardial function. |
| Q38167806 | Induced pluripotent stem cells as cardiac arrhythmic in vitro models and the impact for drug discovery. |
| Q28071683 | Inherited bradyarrhythmia: A diverse genetic background |
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| Q39404378 | Proteostasis in cardiac health and disease. |
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