Publications by authors named "Silvia G Priori"

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

Stabilizer Cell Gene Therapy: A Less-Is-More Strategy to Prevent Cardiac Arrhythmias.

Circ Arrhythm Electrophysiol 2020 Sep 27;13(9):e008420. Epub 2020 Jul 27.

Departments of Medicine/Cardiology (M.B.L., Z.Q., J.N.W.), David Geffen School of Medicine, University of California, Los Angeles.

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http://dx.doi.org/10.1161/CIRCEP.120.008420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7494545PMC
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

Inherited conditions of arrhythmia: translating disease mechanisms to patient management.

Cardiovasc Res 2020 Jul;116(9):1539-1541

Department of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, Location Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/cvr/cvaa150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7341161PMC
July 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

Warning: not all carriers of pathogenic mutations in desmosomal genes should follow the same medical advices!

Cardiovasc Res 2020 May;116(6):1085-1088

Molecular Cardiology, ICS Maugeri, IRCCS, Via Maugeri, 10, 27100 Pavia, Italy.

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http://dx.doi.org/10.1093/cvr/cvaa049DOI Listing
May 2020

An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.

Circulation 2020 02 16;141(6):429-439. Epub 2020 Jan 16.

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

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http://dx.doi.org/10.1161/CIRCULATIONAHA.119.043114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035205PMC
February 2020

What a Congress!

Eur Heart J 2019 Nov;40(43):3507-3509

ESC Congress Programme Committee Chair 2018-2020, Division of Cardiology, University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1093/eurheartj/ehz740DOI Listing
November 2019

European Society of Cardiology Congress 2019 Together With the World Congress of Cardiology in Paris: The Scientific Chairs Give the Inside Track on Achieving Excellence and Engagement.

Circulation 2019 11 4;140(19):1590-1592. Epub 2019 Nov 4.

Division of Cardiology, University Hospitals, Geneva, Switzerland (M.R.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.119.044337DOI Listing
November 2019

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

Predicting Patient Response to the Antiarrhythmic Mexiletine Based on Genetic Variation.

Circ Res 2019 02;124(4):539-552

From the Department of Biomedical Engineering (W.Z., T.L.V., P.H., J.D.M., P.A., K.M.N., J.R.S.), Washington University in St Louis, MO.

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http://dx.doi.org/10.1161/CIRCRESAHA.118.314050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588292PMC
February 2019

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

Arrhythmogenic Cardiomyopathy: Pathophysiology Beyond Cardiac Myocytes.

Circ Res 2017 12;121(12):1296-1298

From the Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy (S.G.P.); Department of Molecular Medicine, University of Pavia, Italy (S.G.P.); and Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), Madrid, Spain (S.G.P., D.J.S.).

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http://dx.doi.org/10.1161/CIRCRESAHA.117.312211DOI Listing
December 2017

Genetic causes of sudden cardiac death in children: inherited arrhythmogenic diseases.

Curr Opin Pediatr 2017 10;29(5):552-559

aMolecular Cardiology, IRCCS ICS Maugeri bDepartment of Molecular Medicine, University of Pavia, Pavia, Italy cFundación Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain.

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http://dx.doi.org/10.1097/MOP.0000000000000537DOI Listing
October 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

Diagnosis of Long QT Syndrome: Time to Stand Up!

Rev Esp Cardiol (Engl Ed) 2017 11 8;70(11):898-900. Epub 2017 Jun 8.

Molecular 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.rec.2017.05.004DOI Listing
November 2017

The new kids on the block of arrhythmogenic disorders: Short QT syndrome and early repolarization.

J Cardiovasc Electrophysiol 2017 Oct 27;28(10):1226-1236. Epub 2017 Jun 27.

Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy.

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http://dx.doi.org/10.1111/jce.13265DOI Listing
October 2017

Efficacy of Flecainide in the Treatment of Catecholaminergic Polymorphic Ventricular Tachycardia: A Randomized Clinical Trial.

JAMA Cardiol 2017 07;2(7):759-766

Thomas P. Graham Jr Division of Pediatric Cardiology, Department of Pediatrics, Monroe Carell Jr Children's Hospital at Vanderbilt, Vanderbilt Center for Arrhythmia Research and Therapeutics, Vanderbilt University Medical Center, Nashville, Tennessee14Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee17Department of Pharmacology, Vanderbilt University Medical Center, Nashville, Tennessee.

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http://dx.doi.org/10.1001/jamacardio.2017.1320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548393PMC
July 2017

Genetic causes of sudden cardiac death in the young.

Curr Opin Cardiol 2017 Mar 6. Epub 2017 Mar 6.

aMolecular Cardiology Laboratories, IRCCS Maugeri Foundation bDepartment of Molecular Medicine, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1097/HCO.0000000000000391DOI Listing
March 2017

Neuronal Na Channels Are Integral Components of Pro-arrhythmic Na/Ca Signaling Nanodomain That Promotes Cardiac Arrhythmias During β-adrenergic Stimulation.

JACC Basic Transl Sci 2016 Jun;1(4):251-266

Dorothy M. Davis Heart and Lung Research Institute, College of Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, USA ; Department of Physiology and Cell Biology, College of Medicine, The Ohio State University, Columbus, OH, US.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065245PMC
http://dx.doi.org/10.1016/j.jacbts.2016.04.004DOI Listing
June 2016

Brugada Syndrome: The Endless Conundrum.

J Am Coll Cardiol 2016 08;68(6):624-625

Molecular Cardiology Department, IRCCS S. 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.2016.02.087DOI Listing
August 2016

Is There a Role for Genetics in the Prevention of Sudden Cardiac Death?

J Cardiovasc Electrophysiol 2016 09 15;27(9):1124-32. Epub 2016 Jul 15.

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

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http://dx.doi.org/10.1111/jce.13028DOI Listing
September 2016

Electrocardiographic features of sudden unexpected death in epilepsy.

Epilepsia 2016 07 24;57(7):e135-9. Epub 2016 May 24.

Division of Epilepsy, Department of Neurology, New York University School of Medicine, New York, New York, U.S.A.

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http://dx.doi.org/10.1111/epi.13411DOI Listing
July 2016

Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles.

J Biol Chem 2016 Jul 4;291(28):14555-65. Epub 2016 May 4.

From the Departments of Anaesthesia and Biomedicine, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland, Department of Life Science and Biotechnology, University of Ferrara, Via Borsari 46, 44100, Ferrara, Italy

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http://dx.doi.org/10.1074/jbc.M115.709071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938177PMC
July 2016

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

Clinical Challenges in Catecholaminergic Polymorphic Ventricular Tachycardia.

Heart Lung Circ 2016 Aug 16;25(8):777-83. Epub 2016 Feb 16.

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.hlc.2016.01.012DOI 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 early after myocardial infarction: authors' reply.

Europace 2016 05 8;18(5):789-90. Epub 2016 Feb 8.

Department of Molecular Medicine, University of Pavia, Cardiology & Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy

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http://dx.doi.org/10.1093/europace/euv454DOI Listing
May 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

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

Genetics of sudden cardiac death.

Circ Res 2015 Jun;116(12):1919-36

From the Department of Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands (C.R.B., N.L.); Molecular Cardiology, Fondazione Salvatore Maugeri, Pavia, Italy (S.G.P.); and Department of Molecular Medicine, University of Pavia, Pavia Italy (S.G.P.).

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http://dx.doi.org/10.1161/CIRCRESAHA.116.304030DOI Listing
June 2015

Use of whole exome sequencing for the identification of Ito-based arrhythmia mechanism and therapy.

J Am Heart Assoc 2015 May 26;4(5). Epub 2015 May 26.

The Dorothy M. Davis Heart & Lung Research Institute, The Ohio State University Wexner Medical Center, The Ohio State University College of Engineering, Columbus, OH (A.C.S., C.F.K., P.G., B.L.J., J.C., A.K., R.D.H., P.F.B., P.L.J., R.W., S.V.R., T.J.H., C.A.C., P.J.M.) Department of Internal Medicine, The Ohio State University Wexner Medical Center, The Ohio State University College of Engineering, Columbus, OH (A.C.S., P.F.B., R.W., S.V.R., T.J.H., P.J.M.) Department of Physiology and Cell Biology, The Ohio State University Wexner Medical Center, The Ohio State University College of Engineering, Columbus, OH (C.F.K., J.C., P.L.J., P.J.M.).

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http://dx.doi.org/10.1161/JAHA.114.001762DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4599408PMC
May 2015

Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome.

Int J Cardiol 2015 15;190:393-402. Epub 2015 Apr 15.

Department of Molecular Physiology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2015.04.090DOI Listing
February 2016

Gene therapy to treat cardiac arrhythmias.

Nat Rev Cardiol 2015 Sep 28;12(9):531-46. Epub 2015 Apr 28.

Division of Cardiology and Molecular Cardiology, Fondazione Salvatore Maugeri, Via Maugeri 10/10°, 27100 Pavia, Italy.

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http://dx.doi.org/10.1038/nrcardio.2015.61DOI Listing
September 2015

hERG Blockade by Iboga Alkaloids.

Cardiovasc Toxicol 2016 Jan;16(1):14-22

National Clinical Research Center for Cardiovascular Diseases and Department of Cardiology, Beijing An Zhen Hospital, Capital Medical University, Beijing, 100029, China.

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http://link.springer.com/10.1007/s12012-015-9311-5
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http://dx.doi.org/10.1007/s12012-015-9311-5DOI Listing
January 2016

Neuronal Na+ channel blockade suppresses arrhythmogenic diastolic Ca2+ release.

Cardiovasc Res 2015 Apr 23;106(1):143-52. Epub 2014 Dec 23.

Dorothy M. Davis Heart and Lung Research Institute, College of Medicine, The Ohio State University Wexner Medical Center, 473 West 12th Avenue, Room 507, Columbus, OH 43210, USA Department of Physiology and Cell Biology, College of Medicine, The Ohio State University, Columbus, OH, USA

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http://dx.doi.org/10.1093/cvr/cvu262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375407PMC
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

Epidemiology of sudden cardiac death in Cameroon: rationale and design of the Douala-SUD survey.

Arch Cardiovasc Dis 2014 Aug-Sep;107(8-9):433-42. Epub 2014 Jul 19.

Department of Molecular Genetic, Fondazione Salvatore Maugeri, IRCCS, Pavia, Italy; Molecular Medicine Department, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1016/j.acvd.2014.05.005DOI Listing
May 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

Genetic testing to predict sudden cardiac death: current perspectives and future goals.

Authors:
Silvia G Priori

Indian Heart J 2014 Jan-Feb;66 Suppl 1:S58-60. Epub 2013 Dec 22.

Director of Cardiology and Molecular Cardiology, 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.ihj.2013.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4237297PMC
August 2015

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

Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes.

Heart Rhythm 2013 Dec 31;10(12):e85-108. Epub 2013 Jul 31.

Maugeri Foundation IRCCS, Pavia, Italy, Department of Molecular Medicine, University of Pavia, Pavia, Italy, and New York University, New York, New York. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2013.07.021DOI Listing
December 2013

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

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

A clinical approach to inherited arrhythmias.

Circ Cardiovasc Genet 2012 Oct;5(5):581-90

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

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http://dx.doi.org/10.1161/CIRCGENETICS.110.959429DOI Listing
October 2012

Molecular autopsy for sudden unexplained death? Time to discuss pros and cons.

J Cardiovasc Electrophysiol 2012 Oct 11;23(10):1099-102. Epub 2012 Sep 11.

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http://doi.wiley.com/10.1111/j.1540-8167.2012.02430.x
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October 2012