about
Brugada syndromeCellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndromeA novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 geneNav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytesInduced pluripotent stem cell-derived cardiomyocytes in studies of inherited arrhythmiasCa(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autismFKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac deathAbnormal calcium signaling and sudden cardiac death associated with mutation of calsequestrinMissense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotypeArrhythmogenic mechanisms in a mouse model of catecholaminergic polymorphic ventricular tachycardia.CaMKII inhibition rectifies arrhythmic phenotype in a patient-specific model of catecholaminergic polymorphic ventricular tachycardia.Clinical and research data integration: the i2b2-FSM experience.Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.Comparison of clinical and genetic variables of cardiac events associated with loud noise versus swimming among subjects with the long QT syndrome.Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome.Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome.Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.[Brugada's syndrome: epidemiology, risk stratification, and clinical management].Flecainide test in Brugada syndrome: a reproducible but risky tool.Risk stratification in the long-QT syndrome.Modulating effects of age and gender on the clinical course of long QT syndrome by genotype.Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome.Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers.Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor.Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome.Long QT syndrome and pregnancy.Long-QT syndrome after age 40.Risk factors for aborted cardiac arrest and sudden cardiac death in children with the congenital long-QT syndrome.Risk of death in the long QT syndrome when a sibling has died.Clinical implications for patients with long QT syndrome who experience a cardiac event during infancy.Risk factors for recurrent syncope and subsequent fatal or near-fatal events in children and adolescents with long QT syndromeRisk stratification in Brugada syndrome: results of the PRELUDE (PRogrammed ELectrical stimUlation preDictive valuE) registry.Genetic testing of inherited arrhythmias.Paradoxical effect of increased diastolic Ca(2+) release and decreased sinoatrial node activity in a mouse model of catecholaminergic polymorphic ventricular tachycardia.Programmed Ventricular Stimulation for Risk Stratification in the Brugada Syndrome: A Pooled Analysis.Gene-Specific Therapy With Mexiletine Reduces Arrhythmic Events in Patients With Long QT Syndrome Type 3.Arrhythmogenic Right Ventricular Cardiomyopathy: Clinical Course and Predictors of Arrhythmic Risk.Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate. Implications for gene-specific therapy.
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description
researcher
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wetenschapper
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հետազոտող
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name
Carlo Napolitano
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Carlo Napolitano
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Carlo Napolitano
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Carlo Napolitano
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type
label
Carlo Napolitano
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Carlo Napolitano
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Carlo Napolitano
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Carlo Napolitano
@nl
prefLabel
Carlo Napolitano
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Carlo Napolitano
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Carlo Napolitano
@es
Carlo Napolitano
@nl
P106
P1153
7005756688
P21
P31
P496
0000-0002-7643-4628