Carlo Napolitano

Q: What Schools Are Affiliated With Carlo Napolitano

Carlo Napolitano is affiliated with the following schools: Sejong University, University of Manchester, University of Ferrara, Polytechnic University of Milan, University of Milan, University of Pavia, Bocconi University, Baylor College of Medicine, Case Western Reserve University

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Carlo Napolitano

Computer Science

#8187

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#8609

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Machine Learning

#3278

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#3317

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Artificial Intelligence

#3581

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#3632

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Database

#5210

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#5410

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Computer Science

Carlo Napolitano's Degrees

PhD Computer Science University of Milan
Masters Computer Science University of Milan

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Carlo Napolitano's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Genotype-Phenotype Correlation in the Long-QT Syndrome: Gene-Specific Triggers for Life-Threatening Arrhythmias (2001) (1679)
CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and Autism (2004) (1450)
Mutations in the Cardiac Ryanodine Receptor Gene (hRyR2) Underlie Catecholaminergic Polymorphic Ventricular Tachycardia (2001) (1357)
Clinical and Molecular Characterization of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia (2002) (1087)
Natural History of Brugada Syndrome: Insights for Risk Stratification and Management (2002) (1071)
Low penetrance in the long-QT syndrome: clinical impact. (1999) (862)
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. (1995) (780)
Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. (2000) (734)
FKBP12.6 Deficiency and Defective Calcium Release Channel (Ryanodine Receptor) Function Linked to Exercise-Induced Sudden Cardiac Death (2003) (721)
Risk stratification in the long-QT syndrome. (2003) (670)
Left Cardiac Sympathetic Denervation in the Management of High-Risk Patients Affected by the Long-QT Syndrome (2004) (617)
A Novel Form of Short QT Syndrome (SQT3) Is Caused by a Mutation in the KCNJ2 Gene (2005) (605)
Risk stratification in Brugada syndrome: results of the PRELUDE (PRogrammed ELectrical stimUlation preDictive valuE) registry. (2012) (523)
Association of Long QT Syndrome Loci and Cardiac Events Among Patients Treated With β-Blockers (2004) (520)
Clinical and Genetic Heterogeneity of Right Bundle Branch Block and ST-Segment Elevation Syndrome: A Prospective Evaluation of 52 Families (2000) (485)
Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: findings from the International LQTS Registry. (1998) (472)
Spectrum of ST-T–Wave Patterns and Repolarization Parameters in Congenital Long-QT Syndrome: ECG Findings Identify Genotypes (2000) (455)
Dispersion of the QT interval. A marker of therapeutic efficacy in the idiopathic long QT syndrome. (1994) (411)
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. (2005) (405)
Long QT syndrome in adults. (2007) (390)
Venice Chart International Consensus Document on Atrial Fibrillation Ablation (2007) (384)
Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes. (2004) (383)
A molecular link between the sudden infant death syndrome and the long-QT syndrome. (2000) (364)
Cardiac Histological Substrate in Patients With Clinical Phenotype of Brugada Syndrome (2005) (353)
Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. (2004) (345)
A cardiac arrhythmia syndrome caused by loss of ankyrin-B function (2004) (337)
Evidence for a Cardiac Ion Channel Mutation Underlying Drug‐Induced QT Prolongation and Life‐Threatening Arrhythmias (2000) (308)
Missense Mutations in Plakophilin-2 Cause Sodium Current Deficit and Associate With a Brugada Syndrome Phenotype (2014) (298)
Long QT syndrome and pregnancy. (2007) (295)
Risk of aborted cardiac arrest or sudden cardiac death during adolescence in the long-QT syndrome. (2006) (293)
Risk Factors for Aborted Cardiac Arrest and Sudden Cardiac Death in Children With the Congenital Long-QT Syndrome (2008) (285)
Bidirectional Ventricular Tachycardia and Fibrillation Elicited in a Knock-In Mouse Model Carrier of a Mutation in the Cardiac Ryanodine Receptor (2005) (283)
High Efficacy of β-Blockers in Long-QT Syndrome Type 1: Contribution of Noncompliance and QT-Prolonging Drugs to the Occurrence of β-Blocker Treatment “Failures” (2009) (272)
Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. (2011) (270)
Arrhythmogenic Mechanisms in a Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia (2007) (264)
Brugada syndrome and sudden cardiac death in children (2000) (264)
Modulating effects of age and gender on the clinical course of long QT syndrome by genotype. (2003) (262)
The Elusive Link Between LQT3 and Brugada Syndrome: The Role of Flecainide Challenge (2000) (260)
Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation. (2002) (256)
Clinical Phenotype and Functional Characterization of CASQ2 Mutations Associated With Catecholaminergic Polymorphic Ventricular Tachycardia (2006) (209)
Comparison of clinical and genetic variables of cardiac events associated with loud noise versus swimming among subjects with the long QT syndrome. (1999) (208)
Epinephrine unmasks latent mutation carriers with LQT1 form of congenital long-QT syndrome. (2003) (208)
Gating Properties of SCN5A Mutations and the Response to Mexiletine in Long-QT Syndrome Type 3 Patients (2007) (205)
Abnormal Interactions of Calsequestrin With the Ryanodine Receptor Calcium Release Channel Complex Linked to Exercise-Induced Sudden Cardiac Death (2006) (204)
Inherited Brugada and Long QT-3 Syndrome Mutations of a Single Residue of the Cardiac Sodium Channel Confer Distinct Channel and Clinical Phenotypes* (2001) (197)
Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: insights from a RyR2 R4496C knock-in mouse model. (2006) (196)
Evaluation of the spatial aspects of T-wave complexity in the long-QT syndrome. (1997) (195)
Programmed Ventricular Stimulation for Risk Stratification in the Brugada Syndrome: A Pooled Analysis (2015) (190)
Novel Insight Into the Natural History of Short QT Syndrome (2014) (185)
Abnormal Calcium Signaling and Sudden Cardiac Death Associated With Mutation of Calsequestrin (2004) (183)
Differential response to Na+ channel blockade, beta-adrenergic stimulation, and rapid pacing in a cellular model mimicking the SCN5A and HERG defects present in the long-QT syndrome. (1996) (179)
Molecular diagnosis in a child with sudden infant death syndrome (2001) (176)
SARS-CoV-2, COVID-19, and inherited arrhythmia syndromes (2020) (174)
Gene-Specific Therapy With Mexiletine Reduces Arrhythmic Events in Patients With Long QT Syndrome Type 3 (2016) (172)
Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. (1999) (172)
Magnetic resonance investigations in Brugada syndrome reveal unexpectedly high rate of structural abnormalities. (2009) (166)
Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome. (2010) (164)
Erratum: Long QT syndrome patients with mutations on the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate: Implications for gene-specific therapy (Circulation (1995) 92 (3381-3386)) (1996) (163)
Inherited calcium channelopathies in the pathophysiology of arrhythmias (2012) (163)
A recessive variant of the Romano-Ward long-QT syndrome? (1998) (154)
Arrhythmogenesis in Catecholaminergic Polymorphic Ventricular Tachycardia: Insights From a RyR2 R4496C Knock-In Mouse Model (2006) (150)
Increased Ca2+ Sensitivity of the Ryanodine Receptor Mutant RyR2R4496C Underlies Catecholaminergic Polymorphic Ventricular Tachycardia (2009) (147)
Yield of Genetic Screening in Inherited Cardiac Channelopathies: How to Prioritize Access to Genetic Testing (2009) (144)
Unexpected Structural and Functional Consequences of the R33Q Homozygous Mutation in Cardiac Calsequestrin: A Complex Arrhythmogenic Cascade in a Knock In Mouse Model (2008) (142)
Long-QT Syndrome After Age 40 (2008) (142)
Should patients with an asymptomatic Brugada electrocardiogram undergo pharmacological and electrophysiological testing? (2005) (138)
Sudden cardiac death and genetic ion channelopathies: long QT, Brugada, short QT, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation. (2012) (132)
Arrhythmogenic Right Ventricular Cardiomyopathy: Clinical Course and Predictors of Arrhythmic Risk. (2016) (131)
How Really Rare Are Rare Diseases?: (2003) (128)
Novel Arrhythmogenic Mechanism Revealed by a Long-QT Syndrome Mutation in the Cardiac Na+ Channel (2001) (128)
Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia. (2007) (126)
Molecular and Electrophysiological Bases of Catecholaminergic Polymorphic Ventricular Tachycardia (2007) (126)
Gene-specific response of dynamic ventricular repolarization to sympathetic stimulation in LQT1, LQT2 and LQT3 forms of congenital long QT syndrome. (2002) (123)
Interplay Between Genetic Substrate, QTc Duration, and Arrhythmia Risk in Patients With Long QT Syndrome. (2018) (122)
Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome. (2000) (120)
Calmodulin kinase II inhibition prevents arrhythmias in RyR2(R4496C+/-) mice with catecholaminergic polymorphic ventricular tachycardia. (2011) (112)
Short Communication: Flecainide Exerts an Antiarrhythmic Effect in a Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia by Increasing the Threshold for Triggered Activity (2011) (109)
CaMKII inhibition rectifies arrhythmic phenotype in a patient-specific model of catecholaminergic polymorphic ventricular tachycardia (2013) (107)
Risk factors for recurrent syncope and subsequent fatal or near-fatal events in children and adolescents with long QT syndrome. (2011) (106)
Catecholaminergic polymorphic ventricular tachycardia: A paradigm to understand mechanisms of arrhythmias associated to impaired Ca(2+) regulation. (2009) (104)
In the RyR2R4496C Mouse Model of CPVT, &bgr;-Adrenergic Stimulation Induces Ca Waves by Increasing SR Ca Content and Not by Decreasing the Threshold for Ca Waves (2010) (102)
A Newly Characterized SCN5A Mutation Underlying Brugada Syndrome Unmasked by Hyperthermia (2003) (101)
Electrocardiographic Prediction of Abnormal Genotype in Congenital Long QT Syndrome: Experience in 101 Related Family Members (2001) (99)
Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels. (2005) (97)
Role of Genetic Analyses in Cardiology: Part I: Mendelian Diseases: Cardiac Channelopathies (2006) (96)
Na+-dependent SR Ca2+ overload induces arrhythmogenic events in mouse cardiomyocytes with a human CPVT mutation. (2010) (95)
ESC-ERC recommendations for the use of automated external defibrillators (AEDs) in Europe. (2004) (90)
Flecainide Test in Brugada Syndrome: A Reproducible but Risky Tool (2003) (89)
Genetics of Cardiac Arrhythmias and Sudden Cardiac Death (2004) (89)
Single Delivery of an Adeno-Associated Viral Construct to Transfer the CASQ2 Gene to Knock-In Mice Affected by Catecholaminergic Polymorphic Ventricular Tachycardia Is Able to Cure the Disease From Birth to Advanced Age (2014) (87)
Female predominance and transmission distortion in the long-QT syndrome. (2006) (86)
Genotype-Phenotype Correlation in the Long-QT Syndrome (2001) (86)
Trafficking Defects and Gating Abnormalities of a Novel SCN5A Mutation Question Gene-Specific Therapy in Long QT Syndrome Type 3 (2010) (81)
Early afterdepolarizations induced in vivo by reperfusion of ischemic myocardium. A possible mechanism for reperfusion arrhythmias. (1990) (79)
Cardiac receptor activation and arrhythmogenesis. (1993) (78)
Location of Mutation in the KCNQ1 and Phenotypic Presentation of Long QT Syndrome (2003) (77)
Paradoxical Effect of Increased Diastolic Ca2+ Release and Decreased Sinoatrial Node Activity in a Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia (2012) (76)
Mechanisms of I(Ks) suppression in LQT1 mutants. (2000) (76)
Risk of death in the long QT syndrome when a sibling has died. (2008) (76)
Incidence and relevance of QTc-interval prolongation caused by tyrosine kinase inhibitors (2015) (72)
Clinical and genetic variables associated with acute arousal and nonarousal-related cardiac events among subjects with long QT syndrome. (2000) (71)
Induced pluripotent stem cell-derived cardiomyocytes in studies of inherited arrhythmias. (2013) (71)
Clinical Implications for Affected Parents and Siblings of Probands With Long-QT Syndrome (2001) (70)
Fever-related arrhythmic events in the multicenter Survey on Arrhythmic Events in Brugada Syndrome. (2018) (69)
Phenotypical Manifestations of Mutations in the Genes Encoding Subunits of the Cardiac Voltage–Dependent L-Type Calcium Channel (2011) (69)
Viral Gene Transfer Rescues Arrhythmogenic Phenotype and Ultrastructural Abnormalities in Adult Calsequestrin-Null Mice With Inherited Arrhythmias (2012) (68)
Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome. (1999) (68)
Therapeutic Strategies for Long-QT Syndrome: Does the Molecular Substrate Matter? (2008) (68)
Assessment of a personalized and distributed patient guidance system (2017) (66)
Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype (2014) (62)
Programmed Electrical Stimulation in Brugada Syndrome: How Reproducible Are the Results? (2002) (61)
Increased Ca 2 (cid:1) Sensitivity of the Ryanodine Receptor Mutant RyR2 R4496C Underlies Catecholaminergic Polymorphic Ventricular Tachycardia (2008) (59)
Age of First Arrhythmic Event in Brugada Syndrome: Data From the SABRUS (Survey on Arrhythmic Events in Brugada Syndrome) in 678 Patients (2017) (57)
Torsade de pointes. Mechanisms and management. (1994) (57)
Decreased RyR2 refractoriness determines myocardial synchronization of aberrant Ca2+ release in a genetic model of arrhythmia (2013) (56)
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome (2020) (55)
Polymorphisms in the NOS 1 AP Gene Modulate QT Interval Duration and Risk of Arrhythmias in the Long QT Syndrome (53)
Concealed arrhythmogenic syndromes: the hidden substrate of idiopathic ventricular fibrillation? (2001) (53)
Allele-Specific Silencing of Mutant mRNA Rescues Ultrastructural and Arrhythmic Phenotype in Mice Carriers of the R4496C Mutation in the Ryanodine Receptor Gene (RYR2) (2017) (50)
Subclinical abnormalities in sarcoplasmic reticulum Ca(2+) release promote eccentric myocardial remodeling and pump failure death in response to pressure overload. (2014) (50)
Gene-specific differences in the circadian variation of ventricular repolarization in the long QT syndrome: a key to sudden death during sleep? (2000) (50)
Clinical implications for patients with long QT syndrome who experience a cardiac event during infancy. (2009) (49)
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases (2022) (48)
Hydroquinidine Prevents Life-Threatening Arrhythmic Events in Patients With Short QT Syndrome. (2017) (46)
Y1767C, a novel SCN5A mutation, induces a persistent Na+ current and potentiates ranolazine inhibition of Nav1.5 channels. (2011) (46)
Gender differences in patients with Brugada syndrome and arrhythmic events: Data from a survey on arrhythmic events in 678 patients. (2018) (46)
Abnormal Propagation of Calcium Waves and Ultrastructural Remodeling in Recessive Catecholaminergic Polymorphic Ventricular Tachycardia (2013) (46)
Adeno-associated virus-mediated CASQ2 delivery rescues phenotypic alterations in a patient-specific model of recessive catecholaminergic polymorphic ventricular tachycardia (2016) (45)
Cardiac ryanodine receptor calcium release deficiency syndrome (2021) (44)
Profile of patients with Brugada syndrome presenting with their first documented arrhythmic event: Data from the Survey on Arrhythmic Events in BRUgada Syndrome (SABRUS). (2018) (44)
Sympathetic activation, ventricular repolarization and Ikr blockade: implications for the antifibrillatory efficacy of potassium channel blocking agents. (1995) (43)
MobiGuide: a personalized and patient-centric decision-support system and its evaluation in the atrial fibrillation and gestational diabetes domains (2017) (43)
The usual suspects in sudden cardiac death of the young: a focus on inherited arrhythmogenic diseases (2014) (42)
Pathogenesis and Therapy of the Idiopathic Long QT Syndrome (1992) (42)
Molecular Biology of the Long QT Syndrome: Impact on Management (1997) (41)
High Efficacy of (cid:1) -Blockers in Long-QT Syndrome Type 1 Contribution of Noncompliance and QT-Prolonging Drugs to the Occurrence of (cid:1) -Blocker Treatment “Failures” (2009) (41)
Genetic testing for long QT syndrome. (2008) (40)
Long QT syndrome and short QT syndrome: how to make correct diagnosis and what about eligibility for sports activity (2006) (40)
Cardiac Sodium Channel Diseases (2003) (39)
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls (2020) (39)
Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome. (2004) (39)
Genetics of ion-channel disorders (2012) (38)
Overexpression of CaMKIIδc in RyR2R4496C+/- knock-in mice leads to altered intracellular Ca2+ handling and increased mortality. (2011) (37)
Policy statement: ESC-ERC recommendations for the use of automated external defibrillators (AEDs) in Europe. (2004) (36)
Late gadolinium enhancement by cardiovascular magnetic resonance is complementary to left ventricle ejection fraction in predicting prognosis of patients with stable coronary artery disease (2012) (36)
Inherited Arrhythmia Syndromes: Applying the Molecular Biology and Genetic to the Clinical Management (2003) (36)
Noninvasive quantification of blood potassium concentration from ECG in hemodialysis patients (2017) (34)
Association of Hydroxychloroquine with QTc Interval in Patients with COVID-19. (2020) (33)
Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT) (2013) (31)
Genetics of Long QT, Brugada, and Other Channelopathies (2004) (31)
Clinical profile and genetic basis of Brugada syndrome in the Chinese population. (2004) (31)
Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1. (2020) (30)
Gene-specific therapy for inherited arrhythmogenic diseases. (2006) (27)
From decision to shared-decision: Introducing patients' preferences into clinical decision analysis (2015) (27)
Genetic Defects of Cardiac Ion Channels. The Hidden Substrate for Torsades de Pointes (2002) (26)
Intracellular Calcium Handling Dysfunction and Arrhythmogenesis: A New Challenge for the Electrophysiologist (2005) (25)
Significance of QT dispersion in the long QT syndrome. (2000) (24)
CardioVAI: An automatic implementation of ACMG‐AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases (2018) (23)
Big Data as a Driver for Clinical Decision Support Systems: A Learning Health Systems Perspective (2018) (23)
In silico assessment of Y1795C and Y1795H SCN5A mutations: implication for inherited arrhythmogenic syndromes. (2007) (22)
R Engine Cell: integrating R into the i2b2 software infrastructure (2011) (20)
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility (2022) (19)
Genetic modulators of the phenotype in the long QT syndrome: state of the art and clinical impact. (2015) (19)
Management of untreatable ventricular arrhythmias during pharmacologic challenges with sodium channel blockers for suspected Brugada syndrome (2018) (19)
Information extraction from Italian medical reports: An ontology-driven approach (2018) (18)
International Triadin Knockout Syndrome Registry: The Clinical Phenotype and Treatment Outcomes of Patients With Triadin Knockout Syndrome (2019) (18)
Supporting Shared Decision Making within the MobiGuide Project (2013) (18)
Clinical Presentation and Outcome of Brugada Syndrome Diagnosed With the New 2013 Criteria (2016) (18)
95 – Timothy Syndrome (2014) (17)
Patient-tailored Workflow Patterns from Clinical Practice Guidelines Recommendations (2013) (16)
Computer simulation of wild-type and mutant human cardiac Na+ current (2006) (15)
Genetics of ventricular tachycardia (2002) (15)
Identification of loss-of-function RyR2 mutations associated with idiopathic ventricular fibrillation and sudden death (2021) (15)
Genetic testing for inherited cardiac arrhythmias. (2010) (14)
Time-to-first appropriate shock in patients implanted prophylactically with an implantable cardioverter-defibrillator: data from the Survey on Arrhythmic Events in BRUgada Syndrome (SABRUS). (2019) (14)
The genetics of cardiomyopathy: Genotyping and genetic counseling (2009) (14)
Early phase telemedicine requirements elicitation in collaboration with medical practitioners (2013) (13)
Supervised methods to extract clinical events from cardiology reports in Italian (2019) (13)
Multivariate Methods for Genetic Variants Selection and Risk Prediction in Cardiovascular Diseases (2016) (12)
RyRCa2+ Leak Limits Cardiac Ca2+ Window Current Overcoming the Tonic Effect of Calmodulin in Mice (2011) (12)
β-Blockers as Antiarrhythmic Agents (2006) (12)
Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1. (2015) (12)
Outcomes of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia Treated With β-Blockers. (2022) (11)
Genetic Testing of Inherited Arrhythmias (2012) (11)
CARDIO-i2b2: integrating arrhythmogenic disease data in i2b2. (2012) (11)
Genetics and arrhythmias: diagnostic and prognostic applications. (2012) (11)
Graphical Representation of Life Paths to Better Convey Results of Decision Models to Patients (2015) (10)
J-Wave Syndromes: Electrocardiographic and Clinical Aspects. (2018) (10)
Molecular underpinning of "good luck". (2006) (10)
Brugada syndrome (2006) (10)
Flecainide and antiarrhythmic effects in a mouse model of catecholaminergic polymorphic ventricular tachycardia. (2012) (10)
When is genetic testing useful in patients suspected to have inherited cardiac arrhythmias? (2010) (10)
Validation of a novel method for non-invasive blood potassium quantification from the ECG (2012) (10)
Efficacy and Limitations of Quinidine in Patients With Brugada Syndrome (2019) (10)
Peptide-Based Targeting of the L-Type Calcium Channel Corrects the Loss-of-Function Phenotype of Two Novel Mutations of the CACNA1 Gene Associated With Brugada Syndrome (2021) (9)
Sudden Cardiac Death Sudden Cardiac Death and Genetic Ion Channelopathies (2012) (9)
Interplay between Clinical Guidelines and Organizational Workflow Systems (2016) (9)
A molecular basis for the therapy of the long QT syndrome. (1996) (8)
From catheters to vectors: the dawn of molecular electrophysiology (2000) (8)
[Brugada's syndrome: epidemiology, risk stratification, and clinical management]. (2002) (8)
Genetics and Arrhythmias: Diagnostic and Prognostic Applications (2012) (8)
Clinical and research data integration: the i2b2-FSM experience. (2013) (7)
Genetic risk stratification in cardiac arrhythmias (2018) (7)
Electrophysiologic mechanisms involved in the development of torsades de pointes (1991) (6)
Principal component analysis identifies abnormal complexity of repolarization in post myocardial infarction patients (1996) (6)
Variable phenotype of long QT syndrome patients with the same genetic defect (1998) (6)
[Long QT syndrome and Brugada syndrome: 2 aspects of the same disease?]. (2001) (6)
The Role of Nurses in E-Health: The MobiGuide Project Experience (2016) (6)
Sunday, 26 August 2012 (2012) (5)
Magnetocardiographic Mapping in an Asymptomatic Brugada Patient, with a de novo SCN5A Mutation-Effects of Flecainide and of Exercise Tests (2006) (5)
Challenges in Molecular Diagnostics of Channelopathies in the Next-Generation Sequencing Era: Less Is More? (2016) (5)
Experimental therapy of genetic arrhythmias: disease-specific pharmacology. (2006) (5)
Romano-Ward and Other Congenital Long QT Syndromes (2004) (5)
Risk Stratification in Brugada Syndrome (2011) (5)
Flecainide monotherapy for catecholaminergic polymorphic ventricular tachycardia: Perspectives and limitations. (2016) (5)
Meandering pathway leading from genotyping to personalized management of long-QT syndrome. (2012) (5)
Cardiac Magnetic Resonance in Stable Coronary Artery Disease: Added Prognostic Value to Conventional Risk Profiling (2018) (5)
Congenital Long QT Syndrome Type 3 (2014) (5)
Role of calmodulin kinase in catecholaminergic polymorphic ventricular tachycardia. (2011) (5)
Recurrent Neural Network Architectures for Event Extraction from Italian Medical Reports (2017) (5)
Abstract 2258: Electrocardiographic Analyisis Of Arrhythmias Developing During Exercise In Patients With Catecholaminergic Polymorphic Ventricular Tachycardia: Insights For Mechanisms And Site Of Origin (2007) (5)
Abstract 910: Catecholaminergic Polymorphic Ventricular Tachycardia: Genetics, Natural History and Response to Therapy (2007) (5)
Missense Mutations in Plakophilin-2 Can Cause Brugada Syndrome Phenotype By Decreasing Sodium Current and Nav1.5 Membrane Localization (2013) (5)
Magnetocardiographic findings and follow-up in an asymptomatic Brugada patient. Effects of Flecainide and of exercise tests (2007) (4)
Abstract 13707: Sodium Channel Blockers Prevent Triggered Activity but Not Abnormal Ca2+ Release in a Knock-in Mouse Model With Ryanodine Receptor Mutation R4496C (2010) (4)
Combining Decision Support System-Generated Recommendations with Interactive Guideline Visualization for Better Informed Decisions (2015) (4)
Genetics of Cardiovascular Diseases (2009) (4)
Chapter 68 – Catecholaminergic Polymorphic Ventricular Tachycardia and Short-coupled Torsades de Pointes (2004) (4)
Rare Variation in Drug Metabolism and Long QT Genes and the Genetic Susceptibility to Acquired Long QT Syndrome (2022) (3)
Use of Patient Generated Data from Social Media and Collaborative Filtering for Preferences Elicitation in Shared Decision Making (2014) (3)
Abstract 262: Identification Of Novel Therapeutic Targets For Catecholaminergic Polymorphic Ventricular Tachycardias In A Knock-in Mouse Model With Ryanodine Receptor Mutation R4496C. (2007) (3)
Phenotypic characterization of Timothy syndrome - a complex cardiac and multisystem disorder (2005) (3)
Tyrosine kinase inhibitors and QTc intervals: A class effect. (2014) (3)
Abstract 2257: KCNJ2 Mutations in Patients Referred for Catecholaminergic Polymorphic Ventricular Tachycardia Gene Screening (2007) (3)
Letters Regarding Article by Coronel et al, “Right Ventricular Fibrosis and Conduction Delay in a Patient With Clinical Signs of Brugada Syndrome: A Combined Electrophysiological, Genetic, Histopathologic, and Computational Study” (2006) (3)
MINI-SYMPOSIUM: LONG QT SYNDROME AND TORSADE DE POINTES— IS THE DOCTOR OR THE PATIENT AT FAULT? Genetic Defects of Cardiac Ion Channels. The Hidden Substrate for Torsades de Pointes (2002) (3)
Action potential changes due to Y1795H mutation in Brugada syndrome patients: a simulation study (2003) (3)
Monday, 27 August 2012 (2012) (3)
The Contradictory Genetics of Atrial Fibrillation: The Growing Gap Between Knowledge and Clinical Implications (2013) (3)
Unexpected Risk Profile of a Large Pediatric Population With Brugada Syndrome. (2019) (3)
Just another Brugada syndrome mutation? (2007) (3)
Abstract 1400: Origin and Mechanisms of Ventricular Tachycardia and Fibrillation in a Knock-in Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia (2006) (3)
Profile of Brugada Syndrome Patients Presenting with Their First Documented Arrhythmic Event. Data from the Survey on Arrhythmic Events in BRUgada Syndrome (SABRUS) (2018) (3)
Abstract 2439: Clinical Profile and Risk of Sudden Death in Children with Timothy Syndrome (2006) (2)
Principal component analysis of repolarization: A novel index of complexity of ventricular repolarization in the long QT syndrome (1996) (2)
Markovian model for wild-type and mutant (Y1795C and Y1795H) human cardiac Na/sup +/ channel (2003) (2)
L-type Calcium Channel Disease (2008) (2)
Information Extraction from Italian medical reports: first steps towards clinical timelines development (2016) (2)
The role of CACNA1C in Brugada syndrome: prevalence and phenotype of probands referred for genetic testing (2022) (2)
Is mexiletine ready for prime time in patients with Type 2 Long QT Syndrome? (2020) (2)
GW26-e4570 Assessment of MESP1 in White Blood Cells May be Useful for Brugada Syndrome Diagnosis (2015) (2)
53 – Inheritable Phenotypes Associated With Altered Intracellular Calcium Regulation (2013) (2)
Natural history and genetic aspects of the Jervell and Lange-Nielsen syndrome. (2001) (2)
Heart, brain, and the risk of sudden death. (2013) (2)
Computational Analyses in Ion Channelopathies In silico assessment of Y 1795 C and Y 1795 H SCN 5 A mutations : implication for inherited arrhythmogenic syndromes (2006) (2)
Abstract 5315: Arrhythmogenesis In Mutant KCNJ2 Associated Catecholaminergic Polymorphic Ventricular Tachycardia (2008) (2)
Table 2. [Cardiac Phenotype of Classic Timothy Syndrome]. (2015) (2)
Genetics for the Electrophysiologist: Take Home Messages for the Clinician. (2010) (1)
Impact of RyR2 Mutation Responsible for Cathecolaminergic Polymorphic Ventricular Tachycardia (CPTV) on the Short Term Interval-Force Relationship of Atrial and Ventricular Myocardium (2009) (1)
Therapeutic modulation of cardiac function by selective peptidomimetic-mediated targeting of the l-type calcium channel machinery (2015) (1)
Cardiac events in genotyped long QT syndrome patients (1998) (1)
Reply: Did Mutation Type Affect the Efficacy of Mexiletine Observed in Patients With LQTS Type 3? (2017) (1)
Markovian Model for Wild-Type and Mutant ( Y 1795 C and Y 1795 H ) Human Cardiac Na + Channel (2003) (1)
Transgenic models in cardiac arrhythmias: how close can we get to the bedside? (2004) (1)
Tuesday, 28 August 2012 (2012) (1)
[Brugada syndrome. Clinical, epidemiologic, and electrophysiologic features]. (1999) (1)
2066 Genotype specific natural history in the long QT syndrome: identification of a novel risk stratification scheme (2003) (1)
ECG repolarization parameters in LQTS family members with borderline QTC duration and cardiac events (1998) (1)
Long QT syndrome patients genetically linked to defective genes on chromosomes 11, 7 and 3 present differential response to changes in heart rate (1996) (1)
Abstract 1077: Calmodulin Kinase Inhibition Prevents the Arrhythmogenesis in RyR2 R4496C+/- knock-in Mice (2007) (1)
Bridging the Dimensions of Research on Cardiac Ryanodine Receptor Mutations (2013) (1)
Ouabain is a Pharmacomimic of Mutant RyR2 Ca2+ Release Dysfunction but is not a Serum-Borne Trigger of CPVT (2011) (1)
Corrigendum: Cellular dysfunction of LQT5-minK mutants: Abnormalities of IKs, IKr and trafficking in long QT syndrome (Human Molecular Genetics (1999) 8 (1499-1507)) (1999) (1)
International Consensus Document on Atrial Fibrillation Ablation (2007) (1)
Identification of a SCN5A Founder Mutation Causing Sudden Death, Brugada Syndrome and Conduction Blocks in Southern Italy. (2021) (1)
Purkinje network is the origin of the beats in Catecholaminergic Bidirectional Ventricular Tachycardia and in the initiating beat of Short Coupling Variant of Torsade de Pointes (2002) (1)
The Meandering Pathway Leading from Genotyping to Personalized Management of LQTS Running title: Priori et al.; Genotype-phenotype correlation in LQTS (2012) (1)
[Role of standard resting ECG in the assessment of sudden cardiac death risk]. (2014) (1)
Abstract 926: Gating Properties of SCN5A Mutants Predict Response to Mexiletine in LQT3 Patients (2006) (1)
Abstract 14356: Blood Tests That Improve the Accuracy of a Brugada Syndrome Diagnosis (2015) (0)
Catecholaminergic polymorphic ventricular tachycardia: risk modulators in patients treated with beta-blockers (2022) (0)
Cardiac Arrest: Genetics, genomics and proteomics in sudden cardiac death (2007) (0)
Abstract 2765: Natural History and Genetic Features of Short QT Syndrome (2008) (0)
CIRCULATING HU PROTEIN ASSESSMENT FOR ARRHYTHMIC RISK STRATIFICATION IN HEART FAILURE PATIENTS (2015) (0)
Poster session Friday 7 December - PM: Effect of systemic illnesses on the heart (2012) (0)
Abstract 2480: Abnormal Physiology of QT Adaptation in Short QT Syndrome: Impact for Diagnosis (2009) (0)
Running title: Genome-wide association study in long QT syndrome (2020) (0)
The Long QT Syndrome: Molecular and Genetic Aspects (2003) (0)
Table 2. [CALM1 Pathogenic Variants Discussed in This GeneReview]. (2016) (0)
Abstract 20515: Clinical Course, Risk Stratification and Response to Beta-Blockers in Patients With Long QT Syndrome Type 3 (2017) (0)
6123A novel ECG parameter predicts lack of eligibility for Subcutaneous Implantable Cardioverter Defibrillator (S-ICD) in patients with Brugada Syndrome (2019) (0)
The heritable nature of the electrocardiogram: How far can population genetics go? (2009) (0)
764 Prevalence and clinical implications of cardiac involvement in individuals with paucisymptomatic SARS-CoV-2 infection (2021) (0)
Natural History of Patients with Typical and Atypical Catecholaminergic Polymorphic Ventricular Tachycardia (2022) (0)
Beyond LQT3 and brugada syndrome: The search for the overlapping phenotypes (2001) (0)
Age KnockIn Mice Affected by Catecholaminergic Polymorphic Ventricular Tachycardia Is Gene to CASQ 2 Single Delivery of an Adeno-Associated Viral Construct to Transfer the Print (2014) (0)
P3814A novel risk stratification scheme for long QT syndrome based on genetic substrate and QTc duration (2018) (0)
P388Reduced pressure overload-induced myocardial remodeling in K201-treated mice with the R4496C cardiac ryanodine receptor mutation (2014) (0)
Relationship between action potential duration and cycle length in patients with the long QT syndrome. Observations on sinus node function and AV conduction (1991) (0)
Novel mechanism of KCNJ2-related short QT syndrome (2011) (0)
Abstract 18338: Efficacy and Safety of the ICD in ARVC Patients (2016) (0)
795A novel molecular approach to correct L-type calcium channel dysfunction associated with Brugada syndrome (2017) (0)
RyR(R4496C) Mutant Mice Model Reveals a New Paradigm on Local Ca2+ Control of ICaL (2011) (0)
Current Challenges in Cardiovascular Molecular Diagnostics (2017) (0)
Letter regarding article by Coronel et al, "right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiological, genetic, histopathologic, and computational study". (2006) (0)
Table 4. [Selected CACNA1C Pathogenic Allelic Variants]. (2015) (0)
Abstract 14905: Allele Specific Silencing Prevents Malignant Arrhythmias and Ultrastructural Abnormalities in Ryanodine Receptor Mutant Mice (2016) (0)
The Slow Pace of the Heart and the Objectives of Molecular Cardiology (2010) (0)
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls (2020) (0)
Automated screening tool for Subcutaneous Implantable Defibrillator in Brugada syndrome has a high eligibility rate which is predicted by simple electrocardiographic parameters (2020) (0)
Age of First Arrhythmic Event in Brugada Syndrome: Data from the Survey on Arrhythmic Events in Brugada Syndrome (SABRUS) in 678 Patients Age of First Arrhythmic Event in Brugada Syndrome (2020) (0)
Abstract 23071: Hydroquinidine Abolishes Life-threatening Arrhythmic Events in Patients With Short QT Syndrome (2017) (0)
769 Differential pharmacological modulation of arrhythmic phenotype in catecholaminergic polymorphic ventricular tachycardia: not all betablockers are the same (2021) (0)
the Electrophysiologist Intracellular Calcium Handling Dysfunction and Arrhythmogenesis : A New Challenge for (2013) (0)
Mutations of cardiac calsequestrin and cardiac arrhythmias: novel insights on pathogenesis and therapy (2013) (0)
Table 4. [Selected RYR2 Pathogenic Variants]. (2016) (0)
Mutation site-specific risk profile in patients with Type 1 Long QT Syndrome (2020) (0)
Genetic Mechanisms of Arrhythmia (2012) (0)
Abstract 20503: Prevalence and Significance of Atrial Fibrillation in Arrhythmogenic Right Ventricular Cardiomyopathy (2017) (0)
Table 5. [TRDN Pathogenic Allelic Variants]. (2016) (0)
Abstract 1254: Novel Insights In Arrhytmogenesis Of Catecholaminergic Ventricular Tachycardia From The First Knock In Model Of Homozygous Calsequestrin Mutation (2007) (0)
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility (2022) (0)
Role of CACNA1C variants in Brugada syndrome: clinical aspects and genetic testing strategies (2020) (0)
Abstract 15029: Validation of 2013 Diagnostic Criteria for Brugada Syndrome in a Cohort of 300 Individuals With Extensive Follow-Up (2013) (0)
Dynamic relation between ventricular repolarization and heart rate in the long QT syndrome (1996) (0)
Chapter 25 – Genetics of Inherited Arrhythmias (2007) (0)
Human induced pluripotent stem cells as an innovative tool to optimize treatment strategies for catecholaminergic polymorphic ventricular tachycardia (2012) (0)
Sodium Current Disorders Geneticist's View (2014) (0)
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility (2022) (0)
Abstract 2339: Characterization of a Novel KCNQ1 Mutation (R259H) That Abbreviates Repolarization and Causes Short QT Syndrome 2 (2009) (0)
Overexpression of CaMKII (cid:1) c in RyR2 R4496C (cid:2) / (cid:3) Knock-In Mice Leads to Altered Intracellular Ca 2 (cid:2) Handling and Increased Mortality (2011) (0)
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases (2022) (0)
1091-223 The implantable defibrillator and the long QT syndrome: An overview of current use and outcome (2004) (0)
Catecholaminergic Polymorphic Ventricular Tachycardia: Another Inherited Arrhythmia? (2002) (0)
Efficacy and safety of the ICD in patients with catecholaminergic polymorphic ventricular tachycardia (2022) (0)
Table 1. [Molecular Genetic Testing Used in Timothy Syndrome]. (2015) (0)
56 – Gene Therapy to Treat Cardiac Arrhythmias (2018) (0)
Impact of molecular biology on diagnosis and management of arrhythmogenic disorders. (1998) (0)
Mechanisms of Actions of Inhaled Anesthetics (2003) (0)
1213Unexpected risk profile in a large paediatric population with Brugada syndrome (2017) (0)
Abstract 2270: Age-dependent Electrical Remodelling in R33Q Catecholaminergic Ventricular Tachycardia Knock-in Mouse Model (2009) (0)
Chapter 2. Pathophysiology of Atrial Fibrillation (2008) (0)
syndromesimplication for inherited arrhythmogenic In silico assessment of Y1795C and Y1795H SCN5A (2016) (0)
[Molecular diagnosis in cardiology]. (1999) (0)
Abstract 13417: Sinus Bradycardia in the CASQ2 R33Q/R33Q Mouse Model Of CPVT is Caused by Abnormal Calcium Clock Physiology (2011) (0)
Electrophysiologic and clinical implications of induced or not ventricular fibrillation by programmed ventricular stimulation in patients with catecholaminergic polymorphic ventricular tachyarrhythmias (2003) (0)
Abstract 1825: Abnormal ECG Markers suggest that Accentuated Intracardiac Conduction Delay is The Common and Distinguishing Feature of Patients with Spontaneous Type 1 ECG or SCN5A Mutation in Brugadas Syndrome (2007) (0)
Abstract 2634: Abnormal Calcium Handling in Casq2R33q+/+ Myocytes From Knock in Mice: Insights Into Arrhythmogenesis in Catecholaminergic Polymorphic Ventricular Tachycardia (2009) (0)
Increased Heart Failure Development After Pressure Overload-Induced Hypertrophy in Mice with a RyR2-R4496C+/- Knock-In Mutation (2011) (0)
Will the Spectrum of Ion Channel Diseases Increase Further in the Near Future (2002) (0)
Differential response to mexiletine, catecholamines and pacing, in a cellular model mimicking the SCN5A and HERG genes defect present in the long QT syndrome (1996) (0)
Multiple pathways for calcium handling abnormalities linking a novel CASQ2 mutation to ventricular arrhytmias and sudden death (2005) (0)
Potential Changes Due to Y 1795 H Mutation in Brugada Syndrome Patients : A Simulation Study (2003) (0)
Inherited arrhythmia: present and future perspectives for genetic therapy (2006) (0)
Genetic and molecular basis of arrhythmias (2000) (0)
Mobile patient feedback through continued monitoring and guideline-based decision support (2015) (0)
Clinical timelines development from textual medical reports in Italian (2017) (0)
Characterization of arrhythmic presentation in patients with arrhythmogenic cardiomyopathy (2020) (0)
Abstract 18712: Adeno-associated Viral Gene Delivery of Calsequestrin 2 Protects Adult Calsequestrin 2-R33Q Knock-in Mice From Developing Ventricular Tachycardias (2012) (0)
APPROPRIATE PRIMARY PROPHYLACTIC IMPLANTATION OF DEFIBRILLATOR IN PATIENTS WITH BRUGADA SYNDROME: IS THERE ANY DIFFERENCE BETWEEN PATIENTS FROM WESTERN AND ASIAN COUNTRIES? DATA FROM A MULTICENTER SURVEY INVOLVING 246 PATIENTS WITH ARRHYTHMIC EVENTS (2017) (0)
Abstract 2967: Long QT Syndrome Genes Modulate The Effect Of NOS1AP Haplotypes On Cardiac Repolarization (2007) (0)
6081Efficacy and limitations of quinidine therapy in patients with Brugada Syndrome (2019) (0)
Abstract 13462: Novel Mechanism of Kcnj2-Related Short Qt Syndrome (2011) (0)
AB1-6: Screening for known mutations in LQTS: A novel way to fast and low cost genotyping? (2006) (0)
Human Induced Pluripotent Stem Cells as an innovative tool to optimize treatment strategies for Catecholaminergic Polimorphic Ventricular Tachicardia (2013) (0)
Table 3. [Selected CASQ2 Pathogenic Variants]. (2016) (0)
Suppressed RyR2 Function Represents a Common Cause of Idiopathic Ventricular Fibrillation and Sudden Cardiac Death (2014) (0)
Intracellular Calcium Handling and Inherited Arrhythmogenic Diseases (2011) (0)
Aborted cardiac arrest and cardiac death in the long QT syndrome patients with documented Torsades de Pointes (1998) (0)
Dispersion of ventricular repolarization: A new marker to identify high risk patients with long QT syndrome (1993) (0)

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