Publications by authors named "Carlo Napolitano"

98Publications

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Authors:
Roddy Walsh Najim Lahrouchi Rafik Tadros Florence Kyndt Charlotte Glinge Pieter G Postema Ahmad S Amin Eline A Nannenberg James S Ware Nicola Whiffin Francesco Mazzarotto Doris Škorić-Milosavljević Christian Krijger Elena Arbelo Dominique Babuty Hector Barajas-Martinez Britt M Beckmann Stéphane Bézieau J Martijn Bos Jeroen Breckpot Oscar Campuzano Silvia Castelletti Candan Celen Sebastian Clauss Anniek Corveleyn Lia Crotti Federica Dagradi Carlo de Asmundis Isabelle Denjoy Sven Dittmann Patrick T Ellinor Cristina Gil Ortuño Carla Giustetto Jean-Baptiste Gourraud Daisuke Hazeki Minoru Horie Taisuke Ishikawa Hideki Itoh Yoshiaki Kaneko Jørgen K Kanters Hiroki Kimoto Maria-Christina Kotta Ingrid P C Krapels Masahiko Kurabayashi Julieta Lazarte Antoine Leenhardt Bart L Loeys Catarina Lundin Takeru Makiyama Jacques Mansourati Raphaël P Martins Andrea Mazzanti Stellan Mörner Carlo Napolitano Kimie Ohkubo Michael Papadakis Boris Rudic Maria Sabater Molina Frédéric Sacher Hatice Sahin Georgia Sarquella-Brugada Regina Sebastiano Sanjay Sharma Mary N Sheppard Keiko Shimamoto M Benjamin Shoemaker Birgit Stallmeyer Johannes Steinfurt Yuji Tanaka David J Tester Keisuke Usuda Paul A van der Zwaag Sonia Van Dooren Lut Van Laer Annika Winbo Bo G Winkel Kenichiro Yamagata Sven Zumhagen Paul G A Volders Steven A Lubitz Charles Antzelevitch Pyotr G Platonov Katja E Odening Dan M Roden Jason D Roberts Jonathan R Skinner Jacob Tfelt-Hansen Maarten P van den Berg Morten S Olesen Pier D Lambiase Martin Borggrefe Kenshi Hayashi Annika Rydberg Tadashi Nakajima Masao Yoshinaga Johan B Saenen Stefan Kääb Pedro Brugada Tomas Robyns Daniela F Giachino Michael J Ackerman Ramon Brugada Josep Brugada Juan R Gimeno Can Hasdemir Pascale Guicheney Silvia G Priori Eric Schulze-Bahr Naomasa Makita Peter J Schwartz Wataru Shimizu Takeshi Aiba Jean-Jacques Schott Richard Redon Seiko Ohno Vincent Probst Elijah R Behr Julien Barc Connie R Bezzina

Genet Med 2020 Sep 7. Epub 2020 Sep 7.

Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1038/s41436-020-00946-5DOI Listing
September 2020

Association of Hydroxychloroquine with QTc Interval in Patients with COVID-19.

Circulation 2020 Jun 5. Epub 2020 Jun 5.

IRCCS Istituti Clinici Scientifici Maugeri, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy; ERN Guard-Heart European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart; Molecular Cardiology, Fundación Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.120.048476DOI Listing
June 2020

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.

Authors:
Najim Lahrouchi Rafik Tadros Lia Crotti Yuka Mizusawa Pieter G Postema Leander Beekman Roddy Walsh Kanae Hasegawa Julien Barc Marko Ernsting Kari L Turkowski Andrea Mazzanti Britt M Beckmann Keiko Shimamoto Ulla-Britt Diamant Yanushi D Wijeyeratne Yu Kucho Tomas Robyns Taisuke Ishikawa Elena Arbelo Michael Christiansen Annika Winbo Reza Jabbari Steven A Lubitz Johannes Steinfurt Boris Rudic Bart Loeys M Ben Shoemaker Peter E Weeke Ryan Pfeiffer Brianna Davies Antoine Andorin Nynke Hofman Federica Dagradi Matteo Pedrazzini David J Tester J Martijn Bos Georgia Sarquella-Brugada Óscar Campuzano Pyotr G Platonov Birgit Stallmeyer Sven Zumhagen Eline A Nannenberg Jan H Veldink Leonard H van den Berg Ammar Al-Chalabi Christopher E Shaw Pamela J Shaw Karen E Morrison Peter M Andersen Martina Müller-Nurasyid Daniele Cusi Cristina Barlassina Pilar Galan Mark Lathrop Markus Munter Thomas Werge Marta Ribasés Tin Aung Chiea C Khor Mineo Ozaki Peter Lichtner Thomas Meitinger J Peter van Tintelen Yvonne Hoedemaekers Isabelle Denjoy Antoine Leenhardt Carlo Napolitano Wataru Shimizu Jean-Jacques Schott Jean-Baptiste Gourraud Takeru Makiyama Seiko Ohno Hideki Itoh Andrew D Krahn Charles Antzelevitch Dan M Roden Johan Saenen Martin Borggrefe Katja E Odening Patrick T Ellinor Jacob Tfelt-Hansen Jonathan R Skinner Maarten P van den Berg Morten Salling Olesen Josep Brugada Ramón Brugada Naomasa Makita Jeroen Breckpot Masao Yoshinaga Elijah R Behr Annika Rydberg Takeshi Aiba Stefan Kääb Silvia G Priori Pascale Guicheney Hanno L Tan Christopher Newton-Cheh Michael J Ackerman Peter J Schwartz Eric Schulze-Bahr Vincent Probst Minoru Horie Arthur A Wilde Michael W T Tanck Connie R Bezzina

Circulation 2020 Jul 20;142(4):324-338. Epub 2020 May 20.

Amsterdam UMC, University of Amsterdam, Heart Center; Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, The Netherlands (N.L., R.T., Y.M., P.G.P., L.B., R.W., N.H., H.L.T., A.A.W., C.R.B.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.120.045956DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7382531PMC
July 2020

SARS-CoV-2, COVID-19, and inherited arrhythmia syndromes.

Heart Rhythm 2020 09 31;17(9):1456-1462. Epub 2020 Mar 31.

Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Heart Center, Amsterdam, The Netherlands; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart). Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2020.03.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7156157PMC
September 2020

Supervised methods to extract clinical events from cardiology reports in Italian.

J Biomed Inform 2019 07 28;95:103219. Epub 2019 May 28.

Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Via Ferrata 5, 27100 Pavia (PV), Italy.

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http://dx.doi.org/10.1016/j.jbi.2019.103219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6948016PMC
July 2019

International Triadin Knockout Syndrome Registry.

Circ Genom Precis Med 2019 02;12(2):e002419

Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics, Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, and Division of Heart Rhythm Services, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN (D.J.C., D.J.T., J.R.G., J.M.B., R.K.R., M.J.A.).

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http://dx.doi.org/10.1161/CIRCGEN.118.002419DOI Listing
February 2019

CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases.

Hum Mutat 2018 12 19;39(12):1835-1846. Epub 2018 Oct 19.

Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy.

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http://doi.wiley.com/10.1002/humu.23665
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http://dx.doi.org/10.1002/humu.23665DOI Listing
December 2018

J-Wave Syndromes: Electrocardiographic and Clinical Aspects.

Card Electrophysiol Clin 2018 06;10(2):355-369

Molecular Cardiology, ICS Maugeri, IRCCS, Pavia, Italy.

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http://dx.doi.org/10.1016/j.ccep.2018.02.009DOI Listing
June 2018

Interplay Between Genetic Substrate, QTc Duration, and Arrhythmia Risk in Patients With Long QT Syndrome.

J Am Coll Cardiol 2018 04;71(15):1663-1671

Molecular Cardiology, Istituti Clinici Scientifici Maugeri, Istituto di Ricovero e Cura a Carattere Scientifico, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Molecular Cardiology, Fundación Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S07351097183325
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http://dx.doi.org/10.1016/j.jacc.2018.01.078DOI Listing
April 2018

Genetic risk stratification in cardiac arrhythmias.

Curr Opin Cardiol 2018 05;33(3):298-303

Molecular Cardiology, Istituti Clinici Scientifici Maugeri, IRCCS.

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http://dx.doi.org/10.1097/HCO.0000000000000506DOI Listing
May 2018

Information extraction from Italian medical reports: An ontology-driven approach.

Int J Med Inform 2018 03 23;111:140-148. Epub 2017 Dec 23.

Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Via Ferrata 5, 27100, Pavia, PV, Italy.

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http://dx.doi.org/10.1016/j.ijmedinf.2017.12.013DOI Listing
March 2018

Age of First Arrhythmic Event in Brugada Syndrome: Data From the SABRUS (Survey on Arrhythmic Events in Brugada Syndrome) in 678 Patients.

Circ Arrhythm Electrophysiol 2017 Dec 18;10(12). Epub 2017 Dec 18.

From the Department of Cardiology, Tel Aviv Medical Center, Tel Aviv University, Israel (A.M., E.L., M.R., Y.M., B.B.); Service de Cardiologie, L'institut du Thorax, CHU de Nantes, France (A.A., J.-B.G., V.P.); INSERM 1045, LIRYC Institute, Bordeaux University Hospital, France (F.S.); Division of Cardiology and Vascular Disease, Rennes University Health Centre, France (P.M.); Division of Cardiology, Department of Internal Medicine, College of Medicine, Catholic University of Korea, Seoul (S.-H.K.); Heart Rhythm Center, Department of Cardiovascular Medicine, Tokyo Medical and Dental University, Japan (S.M., Y.T., K.H.); Division of Arrhythmia and Electrophysiology, Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan (T.K., T.A., K.F.K.); Heart Rhythm Management Centre, UZ-VUB (Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel), Belgium (G.C., P.B.); Cardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei (J.J.M.J.); Department of Cardiology, Beth Israel Deaconess Medical Center, Boston, MA (E.L.); Arrhythmia Services, Cardiology Division, Department of Medicine, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada (M.R.); Department of Internal Medicine J, Tel Aviv Medical Center, Israel (A.H.); Department of Clinical and Experimental Cardiology, Heart Centre AMC (Academisch Medisch Centrum), University of Amsterdam, The Netherlands (Y.M., P.G.P., A.A.M.W.); Hospital Clínic Pediatric Arrhythmia Unit, Cardiovascular Institute, Pediatric Arrhythmias, Electrophysiology and Sudden Death Unit, Cardiology Department, Hospital Sant Joan de Déu, University of Barcelona, Spain (E.A., J.B.); Department of Cardiology, First Affiliated Hospital of Xiamen University, Fujian, China (Z.H.); Service de Cardiologie et CNMR Maladies Cardiaques Héréditaires Rares, Hôpital Bichat, Paris, France (I.D., A.L.); Université Paris Diderot, Sorbonne, Paris, France (I.D., A.L.); Division of Cardiology, Department of Medical Sciences, Città della Salute e della Scienza Hospital, University of Torino, Italy (C.G., F.G.); Cardiovascular Sciences, St George's, University of London, United Kingdom (Y.D.W., E.R.B.); Cardiology Clinical Academic Group, St George's University Hospitals NHS Foundation Trust, London, United Kingdom (Y.D.W., E.R.B.); Department of Molecular Cardiology, Istituti Clinici Scientifici Maugeri IRCCS, Pavia, Italy (C.N., S.G.P.); Cardiovascular Genetics Center, Institut d'Investigació Biomèdica Girona-IdIBGi, Spain (R.B.); Department of Cardiology, Erasme University Hospital, Université Libre de Bruxelles, Belgium (R.C.-A.); Department of Cardiology, Quebec Heart and Lung Institute, Canada (J.C.); Division of Cardiology, Policlinico Casilino, Roma, Italy (L.C.); Department of Cardiology, Pediatric Arrhythmias, Electrophysiology, and Sudden Death Unit, Hospital Sant Joan de Déu Barcelona, Universitat de Barcelona, Spain (G.S.-B.); Department of Cardiology, Heart Centre, Copenhagen University Hospital, Rigshospitalet, Denmark (J.T.-H.); Department of Medicine and Surgery, University of Copenhagen, Denmark (J.T.-H.); Department of Molecular Medicine, University of Pavia, Italy (S.G.P.); Department of Cardiovascular Medicine, Osaka City University Graduate School of Medicine, Japan (M.T.); Division of Rhythmology and Electrophysiology, Department of Cardiology, Hannover Medical School, Germany (C.V.); Division of Cardiology, Hospital of Peschiera del Garda, Veneto, Italy (P.D.); Department of Cardiac, Thoracic, and Vascular Sciences, University of Padova, Italy (D.C.); Lankenau Medical Center, Wynnewood, PA (G.-X.Y.); and Division of Cardiology, Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea (G.-B.N.).

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http://dx.doi.org/10.1161/CIRCEP.117.005222DOI Listing
December 2017

Hydroquinidine Prevents Life-Threatening Arrhythmic Events in Patients With Short QT Syndrome.

J Am Coll Cardiol 2017 Dec;70(24):3010-3015

Molecular Cardiology, Department of Cardiology, IRCCS ICS Maugeri, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Fundación Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2017.10.025DOI Listing
December 2017

Allele-Specific Silencing of Mutant mRNA Rescues Ultrastructural and Arrhythmic Phenotype in Mice Carriers of the R4496C Mutation in the Ryanodine Receptor Gene ().

Circ Res 2017 Aug 15;121(5):525-536. Epub 2017 Jun 15.

From the Molecular Cardiology, IRCCS Istituti Clinici Scientifici Maugeri, Pavia, Italy (R.B., M.D., A.M., F.L., A.V., S.F., G.R., D.M., S.B., C.N., S.G.P.); Department of Molecular Medicine, University of Pavia, Italy (R.B., A.M., S.F., S.G.P.); CeSI-Met - Center for Research on Ageing and Translational Medicine & DNICS - Department of Neuroscience, Imaging and Clinical Sciences, University G. d'Annunzio, Chieti, Italy (S.B., A.D.F.); CeSI-Met - Center for Research on Ageing and Translational Medicine and DMSI, Department of Medicine and Aging Sciences, University G. d'Annunzio, Chieti, Italy (F.P.); Telethon Institute of Genetics and Medicine, Naples, Italy (A.A.); and Medical Genetics, Department of Translational Medicine, Federico II University, Naples, Italy (A.A.).

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http://dx.doi.org/10.1161/CIRCRESAHA.117.310882DOI Listing
August 2017

Noninvasive quantification of blood potassium concentration from ECG in hemodialysis patients.

Sci Rep 2017 02 15;7:42492. Epub 2017 Feb 15.

Department of Electrical, Electronic and Information Engineering "Guglielmo Marconi", University of Bologna, Cesena, Italy.

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http://dx.doi.org/10.1038/srep42492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5309791PMC
February 2017

Challenges in Molecular Diagnostics of Channelopathies in the Next-Generation Sequencing Era: Less Is More?

Front Cardiovasc Med 2016 12;3:29. Epub 2016 Sep 12.

Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri , Pavia , Italy.

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http://dx.doi.org/10.3389/fcvm.2016.00029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018689PMC
September 2016

Interplay between Clinical Guidelines and Organizational Workflow Systems. Experience from the MobiGuide Project.

Methods Inf Med 2016 Dec 13;55(6):488-494. Epub 2016 Jul 13.

Mor Peleg, University of Haifa, Department of Information Systems, Rabin Building, room 7047, Haifa, 3498838, Israel, E-mail:

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http://dx.doi.org/10.3414/ME16-01-0006DOI Listing
December 2016

Multivariate Methods for Genetic Variants Selection and Risk Prediction in Cardiovascular Diseases.

Front Cardiovasc Med 2016 8;3:17. Epub 2016 Jun 8.

Department of Psychiatry, McLean Hospital, Harvard Medical School , Belmont, MA , USA.

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http://dx.doi.org/10.3389/fcvm.2016.00017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4896915PMC
July 2016

The Role of Nurses in E-Health: The MobiGuide Project Experience.

Stud Health Technol Inform 2016 ;225:153-7

Dept. Electrical, Computers and Biomedical Engineering, University of Pavia, Italy.

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April 2017

Clinical Presentation and Outcome of Brugada Syndrome Diagnosed With the New 2013 Criteria.

J Cardiovasc Electrophysiol 2016 08 15;27(8):937-43. Epub 2016 Jun 15.

Laboratory of Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia, Italy.

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http://dx.doi.org/10.1111/jce.12997DOI Listing
August 2016

Gene-Specific Therapy With Mexiletine Reduces Arrhythmic Events in Patients With Long QT Syndrome Type 3.

J Am Coll Cardiol 2016 Mar;67(9):1053-1058

Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2015.12.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773513PMC
March 2016

Programmed Ventricular Stimulation for Risk Stratification in the Brugada Syndrome: A Pooled Analysis.

Circulation 2016 Feb 21;133(7):622-30. Epub 2016 Jan 21.

From Division of Cardiology, Beth Israel Deaconess Medical Center, Boston, MA (J.S.); Service de Cardiologue du CHU de Nantes, CHU de Nantes, Hôpital Nord, Nantes, France (V.P.); Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (A.M., C.N., S.G.P.); Dipartimento di Medicina, Molecolare Università di Pavia, Pavia, Italy (S.G.P.); Division of Cardiology, Casa di Cura Pederzoli, Peschiera del Garda, Verona, Italy (P.D.); Arrhythmia Unit, Cardiovascular Surgery and Cardiology Institute, Havana, Cuba (J.C.H.); Division of Cardiology, Department of Medicine, Nihon University School of Medicine, Tokyo, Japan (K.O., I.W.); Department of Cardiac, Thoracic and Vascular Sciences, University of Padova, Padova, Italy (A.Z., D.C.); Institut Universitaire de Cardiologie et Pneumologie de Québec, Quebec City, QC, Canada (J.C., I.N.); Department of Electrophysiology and Pacing, Onassis Cardiac Surgery Center, Athens, Greece (A.K., G.T.); Boston University and National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA (X.Y.); Cardiovascular Research Center and Cardiac Arrhythmia Service, Massachusetts General Hospital, Boston (D.J.M., P.T.E., S.A.L.); Heart Centre AMC, Department of Clinical and Experimental Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands (A.W.); Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, Jeddah, Kingdom of Saudi Arabia (A.W.); Bordeaux University Hospital, LIRYC Institute/INSERM 1045, Bordeaux, France (F.S.); First Department of Medicine-Cardiology, University Medical Centre Mannheim, Mannheim, Germany (M.B.); DZHK (German Centre for Cardiovascular Research), partner site Heidelberg/Mannheim, Mannheim, Germany (M.B.); Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA (P.T.E., S.A.L.); Department of Cardiology, General Hospital of Conegliano, Conegliano, Treviso, Italy (G.A.); and Lankenau I

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http://circ.ahajournals.org/content/early/2016/01/21/CIRCULA
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http://circ.ahajournals.org/lookup/doi/10.1161/CIRCULATIONAH
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http://dx.doi.org/10.1161/CIRCULATIONAHA.115.017885DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4758872PMC
February 2016

Flecainide monotherapy for catecholaminergic polymorphic ventricular tachycardia: Perspectives and limitations.

Authors:
Carlo Napolitano

Heart Rhythm 2016 Feb 21;13(2):614-5. Epub 2015 Oct 21.

Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2015.10.030DOI Listing
February 2016

Genetic modulators of the phenotype in the long QT syndrome: state of the art and clinical impact.

Curr Opin Genet Dev 2015 Aug 2;33:17-24. Epub 2015 Aug 2.

Department of Molecular Medicine University of Pavia, Pavia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.gde.2015.06.009DOI Listing
August 2015

Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1.

Eur J Med Genet 2015 Jun-Jul;58(6-7):332-5. Epub 2015 Apr 13.

Service of Pediatric Genetics and Cytogenetic Unit, Center for Registry and Research in Congenital Anomalies (CRIAC), "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara, Mexico.

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http://dx.doi.org/10.1016/j.ejmg.2015.04.001DOI Listing
March 2016

Graphical representation of life paths to better convey results of decision models to patients.

Med Decis Making 2015 04 14;35(3):398-402. Epub 2015 Jan 14.

University of Pavia, Italy (SR, CR, LS, EP, SQ)

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http://dx.doi.org/10.1177/0272989X14565822DOI Listing
April 2015

[Role of standard resting ECG in the assessment of sudden cardiac death risk].

G Ital Cardiol (Rome) 2014 Dec;15(12):670-7

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http://dx.doi.org/10.1714/1718.18768DOI Listing
December 2014

From decision to shared-decision: Introducing patients' preferences into clinical decision analysis.

Artif Intell Med 2015 Sep 1;65(1):19-28. Epub 2014 Nov 1.

Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Via Ferrata 5, 27100 Pavia, Italy.

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http://dx.doi.org/10.1016/j.artmed.2014.10.004DOI Listing
September 2015

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.

Circulation 2014 Jun 2;129(25):2673-81. Epub 2014 Jun 2.

From Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (M.D., R.B., F.L., V.C.D.G., J.E.A.-C., S.P., A.C., F.E., P.B., C.N., S.G.P.); CeSI-Center for Research on Ageing & DNI-Department of Neuroscience and Imaging, University G. d'Annunzio, Chieti, Italy (S.B., L.P., F.P.); Facultad de Ciencias Médicas, Centro de Investigaciones Cardiovasculares, UNLP-CONICET, La Plata, Argentina (V.C.D.G.); Laboratorio de Cardiología Molecular, Insituto de Fisiología, Benemérita Universidad Autónoma de Puebla, Puebla, México (J.E.A.-C.); Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing, China (N.L.); Division of Cardiology, Department of Medical and Surgical Science, University of "Magna Graecia," Catanzaro, Italy (A.C.); Federico II University of Naples, Cardiology, Naples, Italy (F.E.); INSERM U836, Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, France (I.M.); Université Joseph Fourier, Grenoble, France (I.M.); Pathology Division, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (L.V.); Laboratorio de Ecología de la Conducta, Instituto de Fisiología, Benemérita Universidad Autónoma de Puebla, Puebla, México (A.M.); Telethon Institute of Genetics and Medicine, Naples, Italy (A.A.); Medical Genetics, Department of Translational Medicine, "Federico II" University, Naples, Italy (A.A.); and Department of Molecular Medicine, University of Pavia, Pavia, Italy (S.G.P.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.113.006901DOI Listing
June 2014

The usual suspects in sudden cardiac death of the young: a focus on inherited arrhythmogenic diseases.

Expert Rev Cardiovasc Ther 2014 Apr;12(4):499-519

Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia, Italy.

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http://dx.doi.org/10.1586/14779072.2014.894884DOI Listing
April 2014

Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype.

Circulation 2014 Mar 18;129(10):1092-103. Epub 2013 Dec 18.

Leon H. Charney Division of Cardiology (M.C., X.L., M.Z., E.A.-P., A.P., H.C.G., S.P., M.D.), and Cardiovascular Genetics Program (M.C., S.P.), NYU School of Medicine, New York, NY; Molecular Cardiology, Maugeri Foundation, Pavia, Italy (V.N., C.N., S.P.); Del E. Webb Center for Neuroscience, Aging & Stem Cell Research, Sanford-Burnham Medical Research Institute, La Jolla, CA (C.K., T.T., H.-S.V.C.); Department of Bioscience and Biotechnology, Sejong University, Seoul, Korea (C.K.); Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD (D.P.J.); and Department of Pharmacology, NYU School of Medicine, New York, NY (E.R.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.113.003077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3954430PMC
March 2014

Subclinical abnormalities in sarcoplasmic reticulum Ca(2+) release promote eccentric myocardial remodeling and pump failure death in response to pressure overload.

J Am Coll Cardiol 2014 Apr 4;63(15):1569-79. Epub 2013 Dec 4.

Department of Cardiology, Medical University of Graz, Graz, Austria; Ludwig Boltzmann Institute for Translational Heart Failure Research, Graz, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2013.11.010DOI Listing
April 2014

Clinical and research data integration: the i2b2-FSM experience.

AMIA Jt Summits Transl Sci Proc 2013 18;2013:239-40. Epub 2013 Mar 18.

IRCCS Fondazione Salvatore Maugeri, Pavia, Italy;

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December 2013

Novel insight into the natural history of short QT syndrome.

J Am Coll Cardiol 2014 Apr 28;63(13):1300-1308. Epub 2013 Nov 28.

Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia, Italy; Cardiovascular Genetics Program, Leon H. Charney Division of Cardiology, New York University School of Medicine, New York, New York; Department of Molecular Medicine, University of Pavia, Pavia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2013.09.078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988978PMC
April 2014

Patient-tailored workflow patterns from clinical practice guidelines recommendations.

Stud Health Technol Inform 2013 ;192:392-6

Dipartimento di Ingegneria Industriale e dell'Informazione, University of Pavia, Italy.

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April 2015

Abnormal propagation of calcium waves and ultrastructural remodeling in recessive catecholaminergic polymorphic ventricular tachycardia.

Circ Res 2013 Jul 14;113(2):142-52. Epub 2013 May 14.

Leon H. Charney Division of Cardiology, Cardiovascular Genetics Program, New York University School of Medicine, New York, NY, USA.

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https://www.ahajournals.org/doi/10.1161/CIRCRESAHA.113.30178
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http://dx.doi.org/10.1161/CIRCRESAHA.113.301783DOI Listing
July 2013

Heart, brain, and the risk of sudden death.

Authors:
Carlo Napolitano

Heart Rhythm 2013 Jul 12;10(7):999-1000. Epub 2013 Apr 12.

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http://dx.doi.org/10.1016/j.hrthm.2013.04.008DOI Listing
July 2013

Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT).

Eur J Hum Genet 2014 Jan 3;22(1). Epub 2013 Apr 3.

1] IRCCS Fondazione Maugeri, Pavia, Italy [2] Cardiovascular Genetics, Leon Charney Division of Cardiology, New York University, New York, NY, USA [3] Department of Molecular Medicine, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1038/ejhg.2013.55DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865399PMC
January 2014

The contradictory genetics of atrial fibrillation: the growing gap between knowledge and clinical implications.

Authors:
Carlo Napolitano

J Cardiovasc Electrophysiol 2013 May 1;24(5):570-2. Epub 2013 Feb 1.

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http://dx.doi.org/10.1111/jce.12091DOI Listing
May 2013

Induced pluripotent stem cell-derived cardiomyocytes in studies of inherited arrhythmias.

J Clin Invest 2013 Jan 2;123(1):84-91. Epub 2013 Jan 2.

Division of Cardiology and Molecular Cardiology, Maugeri Foundation-University of Pavia, Via Maugeri 10/10°, 27100 Pavia, Italy.

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http://dx.doi.org/10.1172/JCI62838DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3533271PMC
January 2013

Bridging the dimensions of research on cardiac ryanodine receptor mutations.

Authors:
Carlo Napolitano

J Cardiovasc Electrophysiol 2013 Feb 9;24(2):219-20. Epub 2012 Nov 9.

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http://dx.doi.org/10.1111/jce.12028DOI Listing
February 2013

CARDIO-i2b2: integrating arrhythmogenic disease data in i2b2.

Stud Health Technol Inform 2012 ;180:1126-8

IRCCS Fondazione Salvatore Maugeri, Pavia, Italy.

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January 2013

Flecainide and antiarrhythmic effects in a mouse model of catecholaminergic polymorphic ventricular tachycardia.

Trends Cardiovasc Med 2012 Feb 4;22(2):35-9. Epub 2012 Aug 4.

Cardiovascular Genetic Program, The Leon H. Charney Division of Cardiology, New York University School of Medicine, New York, NY 10016, USA.

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http://dx.doi.org/10.1016/j.tcm.2012.06.008DOI Listing
February 2012

Inherited calcium channelopathies in the pathophysiology of arrhythmias.

Nat Rev Cardiol 2012 Oct 26;9(10):561-75. Epub 2012 Jun 26.

Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Via Maugeri 10/10a, Pavia 27100, Italy.

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http://dx.doi.org/10.1038/nrcardio.2012.93DOI Listing
October 2012

Meandering pathway leading from genotyping to personalized management of long-QT syndrome.

Circulation 2012 Apr 28;125(16):1961-3. Epub 2012 Mar 28.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.112.102293DOI Listing
April 2012

Genetics of ion-channel disorders.

Curr Opin Cardiol 2012 May;27(3):242-52

Leon H. Charney Division of Cardiology, New York University, New York, New York, USA.

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http://dx.doi.org/10.1097/HCO.0b013e328352429dDOI Listing
May 2012

Genetic testing of inherited arrhythmias.

Authors:
Carlo Napolitano

Pediatr Cardiol 2012 Aug 17;33(6):980-7. Epub 2012 Mar 17.

Molecular Cardiology Laboratories, IRCCS Fondazione Salvatore Maugeri, Via Maugeri 10, 27100, Pavia, Italy.

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http://dx.doi.org/10.1007/s00246-012-0287-7DOI Listing
August 2012

Genetics and arrhythmias: diagnostic and prognostic applications.

Rev Esp Cardiol (Engl Ed) 2012 Mar 14;65(3):278-86. Epub 2012 Jan 14.

Medicina Molecolare, IRCCS Fondazione Salvatore Maugeri, Pavía, Italy.

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http://dx.doi.org/10.1016/j.recesp.2011.10.008DOI Listing
March 2012

Short communication: flecainide exerts an antiarrhythmic effect in a mouse model of catecholaminergic polymorphic ventricular tachycardia by increasing the threshold for triggered activity.

Circ Res 2011 Jul 16;109(3):291-5. Epub 2011 Jun 16.

Cardiovascular Genetics Program, Leon H. Charney Division of Cardiology, New York University School of Medicine, 522 First Ave, New York, NY 10016, USA.

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http://dx.doi.org/10.1161/CIRCRESAHA.111.247338DOI Listing
July 2011

Role of calmodulin kinase in catecholaminergic polymorphic ventricular tachycardia.

Heart Rhythm 2011 Oct 10;8(10):1601-5. Epub 2011 Mar 10.

Molecular Cardiology, IRCCS, Fondazione Salvatore Maugeri, Pavia, Italy.

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http://dx.doi.org/10.1016/j.hrthm.2011.03.012DOI Listing
October 2011

Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel.

Circ Res 2011 Mar;108(5):607-18

Executive Director and Director of Research, Gordon K. Moe Scholar, Masonic Medical Research Laboratory, 2150 Bleecker St, Utica, NY 13501, USA.

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http://dx.doi.org/10.1161/CIRCRESAHA.110.224279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3056572PMC
March 2011

Genetics for the Electrophysiologist: Take Home Messages for the Clinician.

Card Electrophysiol Clin 2010 Dec;2(4):623-634

Cadiovascular Genetics, Leon Charney Division of Cardiology, New York University Medical Center, 403 East 34th Street, RIV 4th Floor, New York, NY 10016, USA.

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http://dx.doi.org/10.1016/j.ccep.2010.09.009DOI Listing
December 2010

Y1767C, a novel SCN5A mutation, induces a persistent Na+ current and potentiates ranolazine inhibition of Nav1.5 channels.

Am J Physiol Heart Circ Physiol 2011 Jan 12;300(1):H288-99. Epub 2010 Nov 12.

Centre de Recherche, Université Laval Robert-Giffard, Quebec City, Quebec, Canada.

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http://dx.doi.org/10.1152/ajpheart.00539.2010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3774256PMC
January 2011

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.

Circ Res 2010 Dec 21;107(12):1483-9. Epub 2010 Oct 21.

Unit of Cardiac Physiology, Manchester Academic Health Sciences Centre, University of Manchester, 46 Grafton St, Manchester M13 9NT, United Kingdom.

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http://dx.doi.org/10.1161/CIRCRESAHA.110.227744DOI Listing
December 2010

Calmodulin kinase II inhibition prevents arrhythmias in RyR2(R4496C+/-) mice with catecholaminergic polymorphic ventricular tachycardia.

J Mol Cell Cardiol 2011 Jan 23;50(1):214-22. Epub 2010 Oct 23.

Cardiovascular Genetics Program, The Leon H. Charney Division of Cardiology, New York University School of Medicine, New York, USA.

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http://dx.doi.org/10.1016/j.yjmcc.2010.10.001DOI Listing
January 2011

The slow pace of the heart and the objectives of molecular cardiology.

Authors:
Carlo Napolitano

J Cardiovasc Electrophysiol 2010 Dec 30;21(12):1373-4. Epub 2010 Aug 30.

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http://dx.doi.org/10.1111/j.1540-8167.2010.01879.xDOI Listing
December 2010

Genetic testing for inherited cardiac arrhythmias.

Hellenic J Cardiol 2010 Mar-Apr;51(2):92-103

Cardiovascular Genetics Program, Leon H. Charney Division of Cardiology, NYU Langone Medical Center, New York, USA.

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December 2010

Trafficking defects and gating abnormalities of a novel SCN5A mutation question gene-specific therapy in long QT syndrome type 3.

Circ Res 2010 Apr 25;106(8):1374-83. Epub 2010 Mar 25.

Cardiovascular Genetics Program, Leon H. Charney Division of Cardiology, New York University School of Medicine, New York, NY, USA.

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http://dx.doi.org/10.1161/CIRCRESAHA.110.218891DOI Listing
April 2010

The genetics of cardiomyopathy: genotyping and genetic counseling.

Curr Treat Options Cardiovasc Med 2009 Dec;11(6):433-46

New York University Langone Medical Center, Leon H. Carney Division of Cardiology, Smilow Research Building, Room 701, 522 First Avenue, New York, NY 10016, USA.

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http://dx.doi.org/10.1007/s11936-009-0046-0DOI Listing
December 2009

Catecholaminergic polymorphic ventricular tachycardia: A paradigm to understand mechanisms of arrhythmias associated to impaired Ca(2+) regulation.

Heart Rhythm 2009 Nov 30;6(11):1652-9. Epub 2009 Jun 30.

Cardiovascular Genetics, Leon H. Charney Division of Cardiology, New York University School of Medicine, New York, New York, USA.

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http://dx.doi.org/10.1016/j.hrthm.2009.06.033DOI Listing
November 2009

When is genetic testing useful in patients suspected to have inherited cardiac arrhythmias?

Curr Opin Cardiol 2010 Jan;25(1):37-45

Cardiovascular Genetics Program, New York University Langone Medical Center, New York, New York 10016, USA.

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http://dx.doi.org/10.1097/HCO.0b013e3283335901DOI Listing
January 2010

Yield of genetic screening in inherited cardiac channelopathies: how to prioritize access to genetic testing.

Circ Arrhythm Electrophysiol 2009 Feb 10;2(1):6-15. Epub 2009 Feb 10.

Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy.

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http://dx.doi.org/10.1161/CIRCEP.108.782888DOI Listing
February 2009

Therapeutic strategies for long-QT syndrome: does the molecular substrate matter?

Circ Arrhythm Electrophysiol 2008 Oct;1(4):290-7

Molecular Cardiology Fondazione Salvatore Maugeri, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1161/CIRCEP.108.795617DOI Listing
October 2008

The heritable nature of the electrocardiogram: How far can population genetics go?

Authors:
Carlo Napolitano

Heart Rhythm 2009 May 3;6(5):642-3. Epub 2009 Mar 3.

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http://dx.doi.org/10.1016/j.hrthm.2009.03.007DOI Listing
May 2009

Increased Ca2+ sensitivity of the ryanodine receptor mutant RyR2R4496C underlies catecholaminergic polymorphic ventricular tachycardia.

Circ Res 2009 Jan 18;104(2):201-9, 12p following 209. Epub 2008 Dec 18.

Institut National de la Santé et de la Recherche Médicale, U637, Université de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1161/CIRCRESAHA.108.177493DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2796688PMC
January 2009