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1. Full Text Arrhythmogenic Cardiomyopathy
by Priori Silvia G and Santiago Demetrio J
Circulation Research, ISSN 0009-7330, 12/2017, Volume 121, Issue 12, pp. 1296 - 1298
Cardiomyopathy
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2. Full Text HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)
by Ackerman, Michael J and Priori, Silvia G and Willems, Stephan and Berul, Charles and Brugada, Ramon and Calkins, Hugh and Camm, A. John and Ellinor, Patrick T and Gollob, Michael and Hamilton, Robert and Hershberger, Ray E and Judge, Daniel P and Le Marec, Hervè and McKenna, William J and Schulze-Bahr, Eric and Semsarian, Chris and Towbin, Jeffrey A and Watkins, Hugh and Wilde, Arthur and Wolpert, Christian and Zipes, Douglas P
Heart rhythm, ISSN 1547-5271, 2011, Volume 8, Issue 8, pp. 1308 - 1339
Cardiomyopathies | Genetics | Channelopathies | Brugada Syndrome - genetics | Cardiomyopathy, Hypertrophic - genetics | Genetic Testing - standards | Humans | Cardiomyopathy, Restrictive - diagnosis | Cardiomyopathy, Hypertrophic - diagnosis | Genetic Counseling | Disease Progression | Cardiomyopathies - genetics | Channelopathies - diagnosis | Channelopathies - genetics | Cardiomyopathies - diagnosis | Cardiomyopathy, Restrictive - complications | Index Medicus
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3. Full Text Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the of cardiomyocytes
by Mohler, Peter J and Rivolta, Ilaria and Napolitano, Carlo and LeMaillet, Guy and Lambert, Stephen and Priori, Silvia G and Bennett, Vann
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2004, Volume 101, Issue 50, pp. 17533 - 17538
SCN5A | Arrhythmia | Targeting | Sudden cardiac death | Trafficking
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4. Full Text Genetic Testing in the Long QT Syndrome: Development and Validation of an Efficient Approach to Genotyping in Clinical Practice
by Napolitano, Carlo and Priori, Silvia G and Schwartz, Peter J and Bloise, Raffaella and Ronchetti, Elena and Nastoli, Janni and Bottelli, Georgia and Cerrone, Marina and Leonardi, Sergio
JAMA, ISSN 0098-7484, 12/2005, Volume 294, Issue 23, pp. 2975 - 2980
CONTEXT In long QT syndrome (LQTS), disease severity and response to therapy vary according to the genetic loci. There exists a critical need to devise... 
MEDICINE, GENERAL & INTERNAL | EVENTS | CHANNEL | DISEASE | COMPOUND MUTATIONS | RISK | DEATH | ARRHYTHMIA | Reproducibility of Results | KCNQ1 Potassium Channel - genetics | Risk Assessment | Humans | Genotype | ERG1 Potassium Channel | Ether-A-Go-Go Potassium Channels - genetics | Genetic Testing - methods | Sequence Analysis, DNA | Algorithms | Codon | Sodium Channels - genetics | Mutation | Romano-Ward Syndrome - genetics | NAV1.5 Voltage-Gated Sodium Channel | Potassium Channels, Voltage-Gated - genetics | Long QT syndrome | Genetic aspects | Research | Gene mutations | Genotype & phenotype | Young adults | Efficiency | Heredity | Genetic testing | Medical screening | Index Medicus | Abridged Index Medicus
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5. Full Text Brugada Syndrome: The Endless Conundrum
by Mazzanti, Andrea and Priori, Silvia G
Journal of the American College of Cardiology, ISSN 0735-1097, 08/2016, Volume 68, Issue 6, pp. 624 - 625
  [...]after a period of time in which malignant cases are predominantly identified, the population of affected individuals progressively includes patients... 
sudden death | electrophysiology | sodium channel | implantable cardioverter-defibrillator | tachyarrhythmias | CARDIAC & CARDIOVASCULAR SYSTEMS | RISK STRATIFICATION | PROGRAMMED ELECTRICAL-STIMULATION | DEATH | PREVIOUS CARDIAC-ARREST | INDIVIDUALS | BUNDLE-BRANCH BLOCK | PATTERN | ST-SEGMENT ELEVATION | REGISTRY | Studies | Cardiac arrhythmia | Population | Defibrillators | Mortality | Index Medicus | Abridged Index Medicus
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6. Full Text Sudden cardiac death and genetic ion channelopathies: Long QT, Brugada, short QT, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation
by Napolitano, Carlo and Bloise, Raffaella and Monteforte, Nicola and Priori, Silvia G
Circulation, ISSN 0009-7322, 04/2012, Volume 125, Issue 16, pp. 2027 - 2034
arrhythmias, cardiac | genetics, Brugada Syndrome | mutation | heart ventricles | long QT syndrome | ARRHYTHMIAS | CARDIAC & CARDIOVASCULAR SYSTEMS | RISK STRATIFICATION | UNEXPLAINED DEATH | SCN5A MUTATIONS | FOLLOW-UP | INTERVAL DURATION | genetics, Brugada syndrome | RYANODINE RECEPTOR | APPARENTLY NORMAL HEART | PERIPHERAL VASCULAR DISEASE | BETA-BLOCKERS | CHANNEL GENE | HEMATOLOGY | Brugada Syndrome - genetics | Ventricular Fibrillation - drug therapy | Channelopathies - physiopathology | Tachycardia, Ventricular - drug therapy | Brugada Syndrome - physiopathology | Humans | Male | Death, Sudden, Cardiac | Arrhythmias, Cardiac - physiopathology | Long QT Syndrome - physiopathology | Arrhythmias, Cardiac - drug therapy | Channelopathies - genetics | Tachycardia, Ventricular - physiopathology | Channelopathies - drug therapy | Brugada Syndrome - drug therapy | Long QT Syndrome - genetics | Tachycardia, Ventricular - genetics | Ventricular Fibrillation - genetics | Ventricular Fibrillation - physiopathology | Female | Long QT Syndrome - drug therapy | Arrhythmias, Cardiac - genetics | Usage | Gene mutations | Cardiac patients | Electrocardiogram | Electrocardiography | Long QT syndrome | Genetic aspects | Research | Health aspects | Heart attack | Risk factors | Index Medicus | Abridged Index Medicus
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7. Full Text Arrhythmogenic Cardiomyopathy: Pathophysiology Beyond Cardiac Myocytes
by Priori, Silvia G and Santiago, Demetrio J
Circulation Research, ISSN 0009-7330, 12/2017, Volume 121, Issue 12, pp. 1296 - 1298
desmoplakin | macrophages | Editorials | genetics | electrophysiology | mice | PLAKOGLOBIN | CARDIAC & CARDIOVASCULAR SYSTEMS | DELETION | HEART | PALMOPLANTAR KERATODERMA | WOOLLY HAIR | PERIPHERAL VASCULAR DISEASE | HEMATOLOGY | DESMOPLAKIN GENE | RIGHT-VENTRICULAR CARDIOMYOPATHY | Myocytes, Cardiac | Phenotype | Desmoplakins - genetics | Humans | Cardiomyopathies | Arrhythmias, Cardiac | Syndrome | Index Medicus
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8. Full Text 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 Cardiology Committee for Practice Guidelines (Writing Committee to Develop Guidelines for Management of Patients with Ventricular Arrhythmias and the
by Zipes, Douglas P and Camm, A. John and Borggrefe, Martin and Buxton, Alfred E and Chaitman, Bernard and Fromer, Martin and Gregoratos, Gabriel and Klein, George and Moss, Arthur J and Myerburg, Robert J and Priori, Silvia G and Quinones, Miguel A and Roden, Dan M and Silka, Michael J and Tracy, Cynthia
Circulation, ISSN 0009-7322, 09/2006, Volume 114, Issue 10, pp. e385 - e484
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9. Full Text Reply
by Mazzanti, Andrea and Maragna, Riccardo and Napolitano, Carlo and Priori, Silvia G
Journal of the American College of Cardiology, ISSN 0735-1097, 01/2017, Volume 69, Issue 2, p. 248
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10. Full Text Reply
by Mazzanti, Andrea and Maragna, Riccardo and Napolitano, Carlo and Priori, Silvia G
Journal of the American College of Cardiology, ISSN 0735-1097, 01/2017, Volume 69, Issue 2, pp. 248 - 249
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11. Full Text Mutataions in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia
by Priori, Silvia G and Napolitano, Carlo and Tiso, Natascia and Memmi, Mirella and Vignati, Gabriele and Bloise, Raffaella and Sorrentino, Vincenzo and Danieli, Gian Antonio
Circulation, ISSN 0009-7322, 01/2001, Volume 103, Issue 2, pp. 196 - 200
Genetics | Tachycardia | Arrhythmia | Ryanodine receptor calcium release channel
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12. Full Text Abstract 16322: Rare Genetic Variants and Long-Term Follow-Up in Patients With Idiopathic Ventricular Fibrillation
by Mazzanti, Andrea and Arseni, Natalia and Gambelli, Patrick and Memmi, Mirella and Morini, Massimo and Bloise, Raffaella and Monteforte, Nicola and Napolitano, Carlo and Priori, Silvia G
Circulation, ISSN 0009-7322, 11/2018, Volume 138, Issue Suppl_1 Suppl 1, pp. A16322 - A16322
IntroductionThe utility of extended genetic screening and the long-term follow-up of patients who survive an episode of idiopathic ventricular fibrillation... 
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13. Full Text Brugada Syndrome
by Mazzanti, Andrea, MD and Priori, Silvia G., MD, PhD
JACC (Journal of the American College of Cardiology), ISSN 0735-1097, 2016, Volume 68, Issue 6, pp. 624 - 625
Cardiovascular | Internal Medicine
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14. Full Text Unexpected Risk Profile of a Large Pediatric Population With Brugada Syndrome
by Mazzanti, Andrea and Ovics, Paz and Shauer, Ayelet and Mameli, Stefano and Marino, Maira and Bloise, Raffaella and Monteforte, Nicola and Raimondo, Cristina and Maltret, Alice and Napolitano, Carlo and Bagnardi, Vincenzo and Priori, Silvia G
Journal of the American College of Cardiology, ISSN 0735-1097, 04/2019, Volume 73, Issue 14, pp. 1868 - 1869
Interestingly, in 2017, the message that symptomatic young individuals with spontaneous type 1 are at high risk was reinforced by the Brugada group, who also... 
CARDIAC & CARDIOVASCULAR SYSTEMS | MANAGEMENT | Heart | Cardiac arrhythmia | Pediatrics | Demography | Abnormalities | Implantation | Population studies | Males | Confidence intervals | Tachycardia | Defibrillators | Syncope | Risk assessment | Quinidine | Dependence | Population | Genetics | Mutation | Cardiovascular diseases | Age
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15. Full Text Diagnosis of Long QT Syndrome: Time to Stand Up
by Mazzanti, Andrea and Priori, Silvia G
Spanish Journal of Cardiology (Revista Española de Cardiología, English Edition), ISSN 1885-5857, 2017, Volume 70, Issue 11, pp. 898 - 900
Cardiovascular | Internal Medicine | Electrocardiography | Arrhythmias, Cardiac | Humans | Long QT Syndrome
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16. Full Text Arrhythmogenesis in Catecholaminergic Polymorphic Ventricular Tachycardia: Insights From a RyR2 R4496C Knock-In Mouse Model
by Liu, Nian and Colombi, Barbara and Memmi, Mirella and Zissimopoulos, Spyros and Rizzi, Nicoletta and Negri, Sara and Imbriani, Marcello and Napolitano, Carlo and Lai, F Anthony and Priori, Silvia G
Circulation Research, ISSN 0009-7330, 08/2006, Volume 99, Issue 3, pp. 292 - 298
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited disease characterized by life threatening arrhythmias and mutations in the gene... 
Ventricular tachycardia | Sudden death | Cardiac electrophysiology | Ryanodine receptor | Transgenic mice | cardiac electrophysiology | ACTIVATION | CARDIAC & CARDIOVASCULAR SYSTEMS | CA2+ RELEASE | FKBP12 | SENSITIVITY | FK506-BINDING PROTEIN | sudden death | transgenic mice | ventricular tachycardia | CALCIUM-RELEASE | SUDDEN CARDIAC DEATH | PERIPHERAL VASCULAR DISEASE | ryanodine receptor | CHANNEL RYANODINE RECEPTOR | MUTATIONS | DYSFUNCTION | HEMATOLOGY | Cells, Cultured | Tachycardia, Ventricular - etiology | Ryanodine Receptor Calcium Release Channel - metabolism | Arrhythmias, Cardiac - etiology | Tacrolimus Binding Proteins - metabolism | Thiazepines - pharmacology | Mutation, Missense | Animals | Membrane Potentials | Ryanodine Receptor Calcium Release Channel - genetics | Mice, Mutant Strains | Myocytes, Cardiac - physiology | Caffeine - pharmacology | Protein Binding | Mice | Epinephrine - pharmacology | Ryanodine - pharmacology | Index Medicus
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17. Full Text Predicting Patient Response to the Antiarrhythmic Mexiletine Based on Genetic Variation
by Zhu, Wandi and Mazzanti, Andrea and Voelker, Taylor L and Hou, Panpan and Moreno, Jonathan D and Angsutararux, Paweorn and Naegle, Kristen M and Priori, Silvia G and Silva, Jonathan R
Circulation research, 02/2019, Volume 124, Issue 4, pp. 539 - 552
Mutations in the SCN5A gene, encoding the α subunit of the Nav1.5 channel, cause a life-threatening form of cardiac arrhythmia, long QT syndrome type 3 (LQT3).... 
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18. Full Text HRS/EHRA Expert Consensus on the Monitoring of Cardiovascular Implantable Electronic Devices (CIEDs)
by Wilkoff, Bruce L and Auricchio, Angelo and Brugada, Josep and Cowie, Martin and Ellenbogen, Kenneth A and Gillis, Anne M and Hayes, David L and Howlett, Jonathan G and Kautzner, Josef and Love, Charles J and Morgan, John M and Priori, Silvia G and Reynolds, Dwight W and Schoenfeld, Mark H and Vardas, Panos E
Heart Rhythm, ISSN 1547-5271, 06/2008, Volume 5, Issue 6, pp. 907 - 925
Title full: HRS/EHRA Expert Consensus on the Monitoring of Cardiovascular Implantable Electronic Devices (CIEDs): Description of Techniques, Indications,... 
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19. Full Text Abstract 14905: Allele Specific Silencing Prevents Malignant Arrhythmias and Ultrastructural Abnormalities in Ryanodine Receptor Mutant Mice
by Bongianino, Rossana and Vollero, Alessandra and Lodola, Francesco and Denegri, Marco and Boncompagni, Simona and Fasciano, Silvia and Mazzanti, Andrea and Mangione, Damiano and Barbaro, Serena and Rizzo, Giulia and Auricchio, Alberto and Napolitano, Carlo and Protasi, Feliciano and Priori, Silvia G
Circulation, ISSN 0009-7322, 11/2016, Volume 134, Issue Suppl_1 Suppl 1, pp. A14905 - A14905
IntroductionMutations in the cardiac Ryanodine Receptor gene (RYR2) are causative of dominant Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), a... 
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20. Full Text Supervised methods to extract clinical events from cardiology reports in Italian
by Viani, Natalia and Miller, Timothy A and Napolitano, Carlo and Priori, Silvia G and Savova, Guergana K and Bellazzi, Riccardo and Sacchi, Lucia
Journal of Biomedical Informatics, ISSN 1532-0464, 07/2019, Volume 95, pp. 103219 - 103219
Clinical narratives are a valuable source of information for both patient care and biomedical research. Given the unstructured nature of medical reports,... 
Neural networks | Information extraction | Natural language processing
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