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1. Full Text Warning: not all carriers of pathogenic mutations in desmosomal genes should follow the same medical advices
by Priori, Silvia G and Mazzanti, Andrea
Cardiovascular research, ISSN 0008-6363, 05/2020, Volume 116, Issue 6, pp. 1085 - 1088
Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Gene Expression | Animals | Desmosomes - genetics | Cardiomyopathies | Heterozygote | Mice | Mutation | Index Medicus
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2. Full Text Allele Specific Silencing of Mutant mRNA Rescues Ultrastructural and Arrhythmic Phenotype in Mice Carriers of the R4496C Mutation in the Ryanodine Receptor Gene (RYR2)
by Bongianino, Rossana and Denegri, Marco and Mazzanti, Andrea and Lodola, Francesco and Vollero, Alessandra and Boncompagni, Simona and Fasciano, Silvia and Rizzo, Giulia and Mangione, Damiano and Barbaro, Serena and Di Fonso, Alessia and Napolitano, Carlo and Auricchio, Alberto and Protasi, Feliciano and Priori, Silvia G
Circulation research, ISSN 0009-7330, 06/2017, Volume 121, Issue 5, pp. 525 - 536
Cardiac arrhythmia | Ryanodine receptor calcium channel | Cardiac sudden death | Cathecholaminergic polymorphic ventricular tachycardia | Transgenic mice | Genetics | Gene therapy | Cardiac & Cardiovascular Systems | Peripheral Vascular Disease | Life Sciences & Biomedicine | Hematology | Cardiovascular System & Cardiology | Science & Technology | Animals, Newborn | Arrhythmias, Cardiac - prevention & control | Humans | Mice, Inbred C57BL | RNA, Messenger - genetics | Cells, Cultured | Male | Mice, Transgenic | Ryanodine Receptor Calcium Release Channel - ultrastructure | Mutation - genetics | RNA, Messenger - ultrastructure | Arrhythmias, Cardiac - pathology | Phenotype | Animals | Ryanodine Receptor Calcium Release Channel - deficiency | Ryanodine Receptor Calcium Release Channel - genetics | Alleles | HEK293 Cells | Heterozygote | Mice | Gene Silencing - physiology | Arrhythmias, Cardiac - genetics | Neonates | Phenotypes | Transcription | Cardiac muscle | RNA-mediated interference | Ryanodine receptors | Tubules | Isoproterenol | Proteins | Gene silencing | Mitochondria | Tachycardia | Sarcoplasmic reticulum | Rodents | Mutation | Ventricle | Heart diseases | Index Medicus
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3. Full Text What a Congress
by Priori, Silvia G and Roffi, Marco
European heart journal, ISSN 0195-668X, 11/2019, Volume 40, Issue 43, pp. 3507 - 3509
Index Medicus
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4. Full Text Gene-Specific Therapy With Mexiletine Reduces Arrhythmic Events in Patients With Long QT Syndrome Type 3
by Mazzanti, Andrea and Maragna, Riccardo and Faragli, Alessandro and Monteforte, Nicola and Bloise, Raffaella and Memmi, Mirella and Novelli, Valeria and Baiardi, Paola and Bagnardi, Vincenzo and Etheridge, Susan P and Napolitano, Carlo and Priori, Silvia G
Journal of the American College of Cardiology, ISSN 0735-1097, 03/2016, Volume 67, Issue 9, pp. 1053 - 1058
mutation | beta-blocker | SCN5A | sudden cardiac death | sodium channel | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Follow-Up Studies | Mexiletine - administration & dosage | Administration, Oral | Humans | Male | Treatment Outcome | Voltage-Gated Sodium Channel Blockers - administration & dosage | Long QT Syndrome - therapy | Long QT Syndrome - physiopathology | Young Adult | Heart Rate - drug effects | Adolescent | Electrocardiography | Long QT Syndrome - genetics | Adult | Female | Retrospective Studies | Child | Genetic Therapy - methods | Confidence intervals | Heart rate | Cardiac arrhythmia | Hypotheses | Statistical analysis | Medical prognosis | Long QT syndrome | Mutation | Drug dosages
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5. Full Text Genetics of sudden cardiac death
by Bezzina, Connie R and Lahrouchi, Najim and Priori, Silvia G
Circulation research, ISSN 0009-7330, 2015, Volume 116, Issue 12, pp. 1919 - 1936
arrhythmias, cardiac | death, sudden, cardiac | genetics | cardiomyopathies | genome-wide association study | Cardiac & Cardiovascular Systems | Peripheral Vascular Disease | Life Sciences & Biomedicine | Hematology | Cardiovascular System & Cardiology | Science & Technology | Brugada Syndrome - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Heart Diseases - physiopathology | Brugada Syndrome - physiopathology | Humans | Ion Channels - genetics | Penetrance | Death, Sudden, Cardiac - etiology | Arrhythmias, Cardiac - physiopathology | Long QT Syndrome - physiopathology | Cardiomyopathies - genetics | Cardiomyopathies - physiopathology | Tachycardia, Ventricular - physiopathology | Heart Conduction System - physiopathology | Long QT Syndrome - genetics | Tachycardia, Ventricular - genetics | Mutation | Arrhythmias, Cardiac - genetics | Heart Diseases - genetics | Index Medicus
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6. Full Text Sodium channel mutations and arrhythmias
by Liu, Nian and Priori, Silvia G and Ruan, Yanfei
Nature reviews cardiology, ISSN 1759-5002, 05/2009, Volume 6, Issue 5, pp. 337 - 348
Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Arrhythmias, Cardiac - metabolism | Protein Subunits | Genetic Predisposition to Disease | Arrhythmias, Cardiac - therapy | Risk Assessment | Humans | Risk Factors | Structure-Activity Relationship | Arrhythmias, Cardiac - physiopathology | Phenotype | Animals | Sodium Channels - chemistry | Sodium Channels - metabolism | Protein Conformation | Sodium Channels - genetics | Mutation | Arrhythmias, Cardiac - genetics | NAV1.5 Voltage-Gated Sodium Channel | Disease Models, Animal | Sodium channels | Gene mutations | Arrhythmia | Causes of | Genetic aspects | Research | Diagnosis | Heart conduction system | Health aspects | Heart diseases | Index Medicus
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7. Full Text Risk for Life-Threatening Cardiac Events in Patients With Genotype-Confirmed Long-QT Syndrome and Normal-Range Corrected QT Intervals
by Goldenberg, Ilan and Horr, Samuel and Moss, Arthur J and Lopes, Coeli M and Barsheshet, Alon and McNitt, Scott and Zareba, Wojciech and Andrews, Mark L and Robinson, Jennifer L and Locati, Emanuela H and Ackerman, Michael J and Benhorin, Jesaia and Kaufman, Elizabeth S and Napolitano, Carlo and Platonov, Pyotr G and Priori, Silvia G and Qi, Ming and Schwartz, Peter J and Shimizu, Wataru and Towbin, Jeffrey A and Vincent, G. Michael and Wilde, Arthur A.M and Zhang, Li
Journal of the American College of Cardiology, ISSN 0735-1097, 01/2011, Volume 57, Issue 1, pp. 51 - 59
corrected QT interval | long-QT syndrome | sudden cardiac death | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Long QT Syndrome - complications | Prognosis | Global Health | Death, Sudden, Cardiac - epidemiology | Humans | Middle Aged | Risk Factors | Heart Arrest - epidemiology | Genotype | Male | Survival Rate | Death, Sudden, Cardiac - etiology | Long QT Syndrome - physiopathology | Young Adult | Adolescent | Electrocardiography | Heart Arrest - etiology | Long QT Syndrome - genetics | Adult | Female | Aged | Child | Cardiac arrhythmia | Heart attacks | Mutation | Drug therapy
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8. Full Text Gene therapy to treat cardiac arrhythmias
by Bongianino, Rossana and Priori, Silvia G
Nature reviews cardiology, ISSN 1759-5002, 09/2015, Volume 12, Issue 9, pp. 531 - 546
Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Animals | Arrhythmias, Cardiac - therapy | Humans | Genetic Therapy - methods | Care and treatment | Cardiovascular research | Arrhythmia | Gene therapy | Methods | Index Medicus
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9. Full Text Inherited calcium channelopathies in the pathophysiology of arrhythmias
by Venetucci, Luigi and Denegri, Marco and Napolitano, Carlo and Priori, Silvia G
Nature reviews cardiology, ISSN 1759-5002, 10/2012, Volume 9, Issue 10, pp. 561 - 575
Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Brugada Syndrome - genetics | Heart Conduction System - pathology | Calcium Channels | Risk Assessment | Autistic Disorder | Humans | Heart Defects, Congenital - pathology | Heart Conduction System - abnormalities | Syndactyly - pathology | Calsequestrin - genetics | Channelopathies - pathology | Long QT Syndrome - pathology | Arrhythmias, Cardiac - pathology | Heart Defects, Congenital - genetics | Channelopathies - genetics | Receptors, Adrenergic, beta - genetics | Ryanodine Receptor Calcium Release Channel - genetics | Brugada Syndrome - pathology | Long QT Syndrome - genetics | Arrhythmias, Cardiac - genetics | Syndactyly - genetics | Causes of | Channelopathies | Genetic aspects | Arrhythmia | Health aspects | Index Medicus
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