Ramon Brugada

Ramon Brugada

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Ramon Brugada

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-glycosylation of the voltage-gated sodium channel β2 subunit is required for efficient trafficking of Na1.5/β2 to the plasma membrane.

J Biol Chem 2019 Sep 11. Epub 2019 Sep 11.

Girona Biomedical Research Institute (IDIBGI), Spain.

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http://dx.doi.org/10.1074/jbc.RA119.007903DOI Listing
September 2019

[Molecular autopsy in sudden cardiac death].

Arch Cardiol Mex 2018 Oct - Dec;88(4):306-312. Epub 2018 Jul 18.

Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares-CIBERCV, Madrid, España; Institut Clínic Cardiovascular (ICCV), Hospital Clínic, Universidad de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, España.

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http://dx.doi.org/10.1016/j.acmx.2018.06.001DOI Listing
August 2019

Electrocardiogram in Newborns: Beneficial or Not?

Pediatr Cardiol 2019 Aug 27;40(6):1320-1321. Epub 2019 Jun 27.

Cardiovascular Genetics Center, Institut D'Investigació Biomèdica Girona (IDIBGI), University of Girona, C/ Dr Castany s/n, Parc Hospitalari Martí i Julià (M-2), Salt, 17190, Girona, Spain.

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http://dx.doi.org/10.1007/s00246-019-02142-yDOI Listing
August 2019

Correction to: Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data.

J Cardiovasc Transl Res 2019 Aug;12(4):389-390

Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla 2, Majadahonda, 28222, Madrid, Spain.

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http://dx.doi.org/10.1007/s12265-019-09901-5DOI Listing
August 2019

Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry.

Rev Esp Cardiol (Engl Ed) 2019 Jun 11;72(6):479-486. Epub 2018 Aug 11.

Unidad de Insuficiencia Cardiaca y Cardiopatías Familiares, Servicio de Cardiología, Hospital Universitario Puerta de Hierro Majadahonda, Majadahonda, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain; Facultad de Ciencias de la Salud, Universidad Francisco de Vitoria (UFV), Pozuelo de Alarcón, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.rec.2018.04.035DOI Listing
June 2019

Massive Migration of an Adrenocortical Carcinoma Thrombus.

Circ Cardiovasc Imaging 2019 May;12(5):e008855

Cardiology Department, Hospital Universitari Doctor Josep Trueta, CIBERCV, Girona, Spain (H.K., S.M., M.M., R.B.).

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http://dx.doi.org/10.1161/CIRCIMAGING.119.008855DOI Listing
May 2019

Update on the Genetic Basis of Sudden Unexpected Death in Epilepsy.

Int J Mol Sci 2019 Apr 23;20(8). Epub 2019 Apr 23.

Cardiovascular Genetics Center, University of Girona-IDIBGI, 17003 Salt, Spain.

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http://dx.doi.org/10.3390/ijms20081979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515014PMC
April 2019

Experimental Models of Brugada syndrome.

Int J Mol Sci 2019 Apr 29;20(9). Epub 2019 Apr 29.

Department of Medical Sciences, Faculty of Medicine, Universitat de Girona (UdG), Girona 17071, Spain.

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http://dx.doi.org/10.3390/ijms20092123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6539778PMC
April 2019

Mechanical Chest Compressions and Traumatic Complications in Out-of-hospital Cardiac Arrest. Is There a Price to Pay?

Rev Esp Cardiol (Engl Ed) 2019 Mar 11;72(3):259-261. Epub 2018 Apr 11.

Departamento de Cardiología, Hospital Dr. Josep Trueta, Girona, Spain; Departamento de Genética, Centro de Genética Cardiovascular, Institut d'Investigacions Biomèdiques de Girona (IDIBGI), Girona, Spain; Departamento de Ciencias Médicas, Facultad de Medicina, Universidad de Girona, Girona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.

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http://dx.doi.org/10.1016/j.rec.2018.01.019DOI Listing
March 2019

The «De Winter» pattern on the electrocardiogram: It is time to run.

Med Clin (Barc) 2019 Feb 7;152(4):166. Epub 2018 Jun 7.

Departamento de Cardiología, Hospital Dr. Josep Trueta, Girona, España; Departamento de Ciencias Médicas, Facultad de Medicina, Universidad de Girona, Girona, España; Departamento de Genética, Centro de Genética Cardiovascular, Institut d'Investigacions Biomèdiques de Girona (IDIBGI), Girona, España; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, España.

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http://dx.doi.org/10.1016/j.medcli.2018.05.003DOI Listing
February 2019

Brugada Syndrome: anesthetic considerations and management algorithm.

Minerva Anestesiol 2019 Feb 30;85(2):173-188. Epub 2018 Oct 30.

Unit of Pediatric Arrhythmia, Department of Cardiology, Sant Joan de Déu Hospital, Barcelona, Spain.

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https://www.minervamedica.it/index2.php?show=R02Y9999N00A181
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http://dx.doi.org/10.23736/S0375-9393.18.13170-1DOI Listing
February 2019

Integration of "Omics" Strategies for Biomarkers Discovery and for the Elucidation of Molecular Mechanisms Underlying Brugada Syndrome.

Proteomics Clin Appl 2018 11 20;12(6):e1800065. Epub 2018 Jul 20.

Laboratory of Proteomics, Research Center of Advanced Biochemistry and Molecular Biology, Department of Experimental and Clinical Medicine, Magna Graecia University of Catanzaro, 88100, Catanzaro, Italy.

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http://dx.doi.org/10.1002/prca.201800065DOI Listing
November 2018

Molecular autopsy in a cohort of infants died suddenly at rest.

Forensic Sci Int Genet 2018 11 31;37:54-63. Epub 2018 Jul 31.

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain; Medical Science Department, School of Medicine, University of Girona, Girona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain; Cardiology Service, Hospital Josep Trueta, Girona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.fsigen.2018.07.023DOI Listing
November 2018

Intimal disruption in type B aortic intramural hematoma. Does size matter? A systematic review and meta-analysis.

Int J Cardiol 2018 Oct 26;269:298-303. Epub 2018 Jul 26.

Cardiology Department, Hospital General Universitari Vall d'Hebron, CIBER-CV, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.ijcard.2018.07.111DOI Listing
October 2018

Authors' reply.

Emergencias 2018 10;30(5):366-367

Servicio de Cardiología, Hospital Universitari Josep Trueta, Girona, España.

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October 2018

Characterization of Electrocardiographic Findings in Young Students.

Rev Esp Cardiol (Engl Ed) 2018 Oct 1. Epub 2018 Oct 1.

Servicio de Cardiología, Hospital Universitario Josep Trueta de Girona, Girona, Spain; Departamento de Ciencias Médicas, Facultad de Medicina, Universidad de Girona, Girona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain; Centro de Genética Cardiovascular, Institut d'Investigació Biomèdica de Girona (IDIBGI), Girona, Spain.

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https://linkinghub.elsevier.com/retrieve/pii/S18855857183037
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http://dx.doi.org/10.1016/j.rec.2018.06.036DOI Listing
October 2018

Recent Advances in Short QT Syndrome.

Front Cardiovasc Med 2018 29;5:149. Epub 2018 Oct 29.

Medical Science Department, University of Girona, Girona, Spain.

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https://www.frontiersin.org/article/10.3389/fcvm.2018.00149/
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http://dx.doi.org/10.3389/fcvm.2018.00149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215807PMC
October 2018

Soria Cardioprotegida. The First Spanish Program for the Prevention and Integral Treatment of Sudden Cardiac Death. Response.

Rev Esp Cardiol (Engl Ed) 2018 08 6;71(8):690. Epub 2018 Jun 6.

Servicio de Cardiología, Hospital Universitario Josep Trueta, Girona, Spain; Facultad de Medicina, Universidad de Girona, Girona, Spain.

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http://dx.doi.org/10.1016/j.rec.2018.05.004DOI Listing
August 2018

Present Status of Brugada Syndrome: JACC State-of-the-Art Review.

J Am Coll Cardiol 2018 08;72(9):1046-1059

Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain; Cardiovascular Genetics Center, Institut d'Investigació Biomèdica Girona (IDIBGI), University of Girona, Girona, Spain; Medical Science Department, School of Medicine, University of Girona, Girona, Spain; Cardiology Service, Hospital Josep Trueta, Girona, Spain.

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http://dx.doi.org/10.1016/j.jacc.2018.06.037DOI Listing
August 2018

[Primary angioplasty versus fibrinolysis in patients at a distance from a hospital with a catheterization laboratory].

Emergencias 2017 Abr;29(2):99-104

Servicio de Cardiología, Hospital Universitari Josep Trueta, Girona, España.

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July 2018

The long-QT syndrome and exercise practice: The never-ending debate.

J Cardiovasc Electrophysiol 2018 03 24;29(3):489-496. Epub 2018 Jan 24.

Arrhythmia Section, Cardiology Department, Hospital Clínic, IDIBAPS, University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1111/jce.13410DOI Listing
March 2018

The Girona Territori Cardioprotegit Project: Performance Evaluation of Public Defibrillators.

Rev Esp Cardiol (Engl Ed) 2018 Feb 16;71(2):79-85. Epub 2017 May 16.

Servicio de Cardiología, Hospital Universitari Dr. Josep Trueta, Girona, Spain; Departamento de Ciencias Médicas, Facultad de Medicina, Universidad de Girona, Girona, Spain; Centro de Genética Cardiovascular, Instituto de investigación biomédica de Girona (IDIBGI), Girona, Spain.

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http://dx.doi.org/10.1016/j.rec.2017.04.011DOI Listing
February 2018

Unmasking the molecular link between arrhythmogenic cardiomyopathy and Brugada syndrome.

Nat Rev Cardiol 2017 Dec 13;14(12):744-756. Epub 2017 Jul 13.

Cardiovascular Genetics Centre, Institut d'Investigació Biomèdica Girona (IDIBGI), University of Girona, Carrer del Dr. Castany, s/n, Parc Hospitalari Martí i Julià (M-2), 17190 Salt, Girona, Spain; the Medical Science Department, School of Medicine, University of Girona, Plaça de Sant Domènec, 3, 17004 Girona, Girona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Avenida Monforte de Lemos, 3-5, 28029 Madrid, Spain; and the Cardiology Service, Hospital Josep Trueta, Avinguda de França, s/n, 17007 Girona, Girona, Spain.

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http://dx.doi.org/10.1038/nrcardio.2017.103DOI Listing
December 2017

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

Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis.

Sports Med 2017 Oct;47(10):2101-2115

Cardiovascular Genetics Center, Institut d'Investigació Biomèdica Girona (IDIBGI), University of Girona, C/Dr Castany s/n, Parc Hospitalari Martí i Julià (M-2), Salt, 17190, Girona, Spain.

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http://dx.doi.org/10.1007/s40279-017-0705-3DOI Listing
October 2017

Patients With Brugada Syndrome and Implanted Cardioverter-Defibrillators: Long-Term Follow-Up.

J Am Coll Cardiol 2017 Oct;70(16):1991-2002

Arrhythmia Section, Cardiology Department, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain; IDIBAPS, Institut d'Investigació August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Arrhythmia Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.jacc.2017.08.029DOI Listing
October 2017

Do sodium channel proteolytic fragments regulate sodium channel expression?

Channels (Austin) 2017 Sep 18;11(5):476-481. Epub 2017 Jul 18.

a Biomedical Sciences , School of Life Sciences, University of Hull , Kingston upon Hull , UK.

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http://dx.doi.org/10.1080/19336950.2017.1355663DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5626351PMC
September 2017

Trafficking and localisation to the plasma membrane of Na 1.5 promoted by the β2 subunit is defective due to a β2 mutation associated with Brugada syndrome.

Biol Cell 2017 Jul;109(7):273-291

Cardiovascular Genetics Group, Girona Biomedical Research Institute (IDIBGI), Salt, Girona, 17190, Spain.

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http://dx.doi.org/10.1111/boc.201600085DOI Listing
July 2017

Brugada Syndrome and Exercise Practice: Current Knowledge, Shortcomings and Open Questions.

Int J Sports Med 2017 07 18;38(8):573-581. Epub 2017 Jun 18.

Cardiology Department, Hospital Clínic, IDIBAPS, Arrhythmia Section, University of Barcelona (Spain), Barcelona, Spain.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-107240
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http://dx.doi.org/10.1055/s-0043-107240DOI Listing
July 2017

Brugada Syndrome and Exercise Practice: Current Knowledge, Shortcomings and Open Questions.

Int J Sports Med 2017 07 23;38(8):e2. Epub 2018 Jan 23.

Cardiology Department, Hospital Clínic, IDIBAPS, Arrhythmia Section, University of Barcelona (Spain), Barcelona, Spain.

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http://dx.doi.org/10.1055/s-0043-120577DOI Listing
July 2017

Short QT syndrome in pediatrics.

Clin Res Cardiol 2017 Jun 16;106(6):393-400. Epub 2017 Mar 16.

Cardiovascular Genetics Center, Gencardio, Institut Investigació Biomèdica de Girona (IDIBGI), C/ Dr Castany s/n, Parc Hospitalari Martí i Julià (M-2), 17290, Salt, Girona, Spain.

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http://dx.doi.org/10.1007/s00392-017-1094-1DOI Listing
June 2017

Sudden death due to catecholaminergic polymorphic ventricular tachycardia following negative stress-test outcome: genetics and clinical implications.

Forensic Sci Med Pathol 2017 Jun 13;13(2):217-225. Epub 2017 Apr 13.

Institute of Public Health, Legal Medicine Section, Catholic University, School of Medicine, Largo Francesco Vito 1, 00168, Rome, Italy.

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http://dx.doi.org/10.1007/s12024-017-9862-9DOI Listing
June 2017

Electrical Substrate Elimination in 135 Consecutive Patients With Brugada Syndrome.

Circ Arrhythm Electrophysiol 2017 May;10(5):e005053

From the Arrhythmology Department (C.P., G.V., G.C., F.M., M.S., R.V., A.C., L.G., Z.C., M.C., A.N., S.C., V.B., V.S.) and Cardiac Surgery Department (A.F., L.M.), IRCCS Policlinico San Donato, San Donato Milanese, Italy; Cardiology Department, Cardiovascular Institute, Hospital Clinic and IDIBAPS, Barcelona, Catalonia (J.B.); Cardiology Department, Hospital Trueta, Girona, Spain (R.B.); Department of Medical Sciences, University of Girona & IDIBGI, Spain (); Pediatric Arrhythmias, Electrophysiology and Sudden Death Unit, Cardiology Department, Hospital Sant Joan de Deu, Barcelona, Spain (G.S.-B.); and Cardiology Department, IRCCS Policlinico San Donato, University of Milan, Italy (M.G.).

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http://dx.doi.org/10.1161/CIRCEP.117.005053DOI Listing
May 2017

Juvenile myoclonic epilepsy and Brugada type 1 ECG pattern associated with (a novel) plakophillin 2 mutation.

J Neurol 2017 Apr 20;264(4):792-795. Epub 2017 Feb 20.

Cardiovascular Genetics Centre, University of Girona-IDIBGI, Parc Científic UdG, Carrer Pic de Peguera 15, 17003, Girona, Spain.

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http://dx.doi.org/10.1007/s00415-017-8414-2DOI Listing
April 2017

Medico-legal perspectives on sudden cardiac death in young athletes.

Int J Legal Med 2017 Mar 21;131(2):393-409. Epub 2016 Sep 21.

Cardiovascular Genetics Center, Gencardio Institut d'Investigacions Biomèdiques de Girona (IDIBGI), Girona, Spain.

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http://dx.doi.org/10.1007/s00414-016-1452-yDOI Listing
March 2017

Reply to letter to editor: "Genetic basis of dilated cardiomyopathy".

Int J Cardiol 2017 02 29;229:32. Epub 2016 Nov 29.

Cardiovascular Genetic Center, IDIBGI, University of Girona, Girona, Spain; Medical Science Department, School of Medecine, University of Girona, Spain.

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http://dx.doi.org/10.1016/j.ijcard.2016.11.304DOI Listing
February 2017

Genetic analysis in post-mortem samples with micro-ischemic alterations.

Forensic Sci Int 2017 Feb 3;271:120-125. Epub 2017 Jan 3.

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain; Medical Science Department, School of Medicine, University of Girona, Girona, Spain; Cardiology Service, Hospital Josep Trueta, Girona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.forsciint.2016.12.035DOI Listing
February 2017

Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data.

J Cardiovasc Transl Res 2017 Feb 30;10(1):35-46. Epub 2017 Jan 30.

Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla 2, Majadahonda, 28222, Madrid, Spain.

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http://dx.doi.org/10.1007/s12265-017-9730-8DOI Listing
February 2017

Update about atrial fibrillation genetics.

Curr Opin Cardiol 2017 Feb 4. Epub 2017 Feb 4.

aCardiovascular Genetics Center, University of Girona - IDIBGI bCentro Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV) cDepartment of Medical Sciences, School of Medicine, University of Girona dCardiomyopathies Unit, Hospital Josep Trueta, Girona, Spain.

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http://dx.doi.org/10.1097/HCO.0000000000000387DOI Listing
February 2017

Transcriptional regulation of the sodium channel gene (SCN5A) by GATA4 in human heart.

J Mol Cell Cardiol 2017 01 26;102:74-82. Epub 2016 Nov 26.

Medical Sciences Department, School of Medicine, University of Girona, 17071 Girona, Spain; Institut d'Investigació Biomèdica de Girona, 17190 Salt, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.yjmcc.2016.10.013DOI Listing
January 2017

A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia.

Forensic Sci Int 2017 Jan 9;270:173-177. Epub 2016 Dec 9.

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain; Department of Medical Sciences, School of Medicine, University of Girona, Girona, Spain; Cardiovascular Genetics Unit, Hospital Josep Trueta, Girona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.forsciint.2016.12.001DOI Listing
January 2017

Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances.

Biology (Basel) 2017 Jan 29;6(1). Epub 2017 Jan 29.

Cardiovascular Genetics Center, IDIBGI, Girona 17190, Spain.

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http://dx.doi.org/10.3390/biology6010007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5372000PMC
January 2017

Acute, Exercise Dose-Dependent Impairment in Atrial Performance During an Endurance Race: 2D Ultrasound Speckle-Tracking Strain Analysis.

JACC Cardiovasc Imaging 2016 12 17;9(12):1380-1388. Epub 2016 Aug 17.

Cardiology Department, Institut d'investigacions Biomèdiques August Pi i Sunyer, Hospital Clínic, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.jcmg.2016.03.016DOI Listing
December 2016

Genetic basis of atrial fibrillation.

Genes Dis 2016 Dec 24;3(4):257-262. Epub 2016 Sep 24.

Cardiovascular Genetics Center, University of Girona, IDIBGI, Spain.

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http://dx.doi.org/10.1016/j.gendis.2016.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6150102PMC
December 2016

Genetic basis of dilated cardiomyopathy.

Int J Cardiol 2016 Dec 21;224:461-472. Epub 2016 Sep 21.

Cardiovascular Genetics Center, IDIBGI, University of Girona, Girona, Spain; Medical Science Department, School of Medicine, University of Girona, Girona, Spain.

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http://dx.doi.org/10.1016/j.ijcard.2016.09.068DOI Listing
December 2016

Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome.

Circ J 2015 15;79(10):2118-29. Epub 2015 Jul 15.

Centre for Medical Genetics, Reproduction and Genetics; Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel).

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http://dx.doi.org/10.1253/circj.CJ-15-0164DOI Listing
July 2016

Inter-individual variability in right ventricle adaptation after an endurance race.

Eur J Prev Cardiol 2016 07 10;23(10):1114-24. Epub 2015 Dec 10.

Thorax Institute, Hospital Clínic, IDIBAPS, University of Barcelona, Spain.

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http://dx.doi.org/10.1177/2047487315622298DOI Listing
July 2016

Brugada Syndrome and PKP2: Evidences and uncertainties.

Int J Cardiol 2016 Jul 7;214:403-5. Epub 2016 Apr 7.

Cardiovascular Genetics Center, IDIBGI - University of Girona, Spain; Medical Sciences Department, School of Medicine, University of Girona, Spain; Familial Cardiomyopathies Unit, Hospital Josep Trueta, Girona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2016.03.194DOI Listing
July 2016

Spatiotemporal Characteristics of QRS Complexes Enable the Diagnosis of Brugada Syndrome Regardless of the Appearance of a Type 1 ECG.

J Cardiovasc Electrophysiol 2016 05 9;27(5):563-70. Epub 2016 Mar 9.

Centre de Genètica Cardiovascular, Universitat de Girona and Hospital Trueta, Girona, Spain.

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http://dx.doi.org/10.1111/jce.12937DOI Listing
May 2016

Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing.

Int J Legal Med 2016 Mar 30;130(2):331-9. Epub 2015 Sep 30.

Cardiovascular Genetics Center, University of Girona-IDIBGI, 17003, Girona, Spain.

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http://dx.doi.org/10.1007/s00414-015-1269-0DOI Listing
March 2016

Sudden infant death syndrome caused by cardiac arrhythmias: only a matter of genes encoding ion channels?

Int J Legal Med 2016 Mar 12;130(2):415-20. Epub 2016 Feb 12.

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain.

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http://dx.doi.org/10.1007/s00414-016-1330-7DOI Listing
March 2016

Sudden death in structurally normal heart: we have learned a lot, but still a long way to go.

Eur Heart J 2016 Feb 14;37(7):638-9. Epub 2015 Sep 14.

Cardiology Service Hospital Universitari Josep Trueta, Departament de Ciències Mèdiques Universitat de Girona, Centre de Genètica Cardiovascular Institut Investigació Biomèdica de Girona, Girona, Spain.

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http://dx.doi.org/10.1093/eurheartj/ehv470DOI Listing
February 2016

Brugada syndrome: clinical and genetic findings.

Genet Med 2016 Jan 23;18(1):3-12. Epub 2015 Apr 23.

Cardiovascular Genetics Centre, University of Girona-IDIBGI, Girona, Spain.

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http://dx.doi.org/10.1038/gim.2015.35DOI Listing
January 2016

Genetics of inherited arrhythmias in pediatrics.

Curr Opin Pediatr 2015 Dec;27(6):665-74

aCardiovascular Genetics Centre, University of Girona-IDIBGI, Spain bDepartment of Medical Science, School of Medicine, University of Girona, Spain cArrhythmia Unit, Hospital Sant Joan de Déu, University of Barcelona, Spain dArrhythmia Unit, Hospital Clinic de Barcelona, University of Barcelona, Spain eCardiomyopathies Unit, Hospital Josep Trueta, Girona, Spain.

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http://dx.doi.org/10.1097/MOP.0000000000000272DOI Listing
December 2015

Age, Genetics, and Fibrosis in the Brugada Syndrome.

J Am Coll Cardiol 2015 Nov;66(18):1987-1989

Cardiovascular Genetics Center, IDIBGI- University of Girona, Girona, Spain; Medical Sciences Department, School of Medicine, University of Girona, Girona, Spain; Familial Cardiomyopathies Unit, Hospital Josep Trueta, Girona, Girona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2015.09.006DOI Listing
November 2015

Genetics of channelopathies associated with sudden cardiac death.

Glob Cardiol Sci Pract 2015 13;2015(3):39. Epub 2015 Oct 13.

Unit of Arrhythmias, Hospital Sant Joan de Deu, University of Barcelona, Spain ; Unit of Arrhythmias, Hospital Clinic de Barcelona, University of Barcelona, Spain.

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http://dx.doi.org/10.5339/gcsp.2015.39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4625210PMC
November 2015

Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia.

Heart Rhythm 2015 Jul 23;12(7):1636-43. Epub 2015 Mar 23.

Centre de Genètica Cardiovascular Universitat de Girona-IDIBGI, Girona, Spain; Institut Clínic del Tòrax, Universitat de Barcelona, Hospital Clínic de Barcelona, Barcelona, Spain; Hospital Universitari Josep Trueta, Girona, Spain.

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http://dx.doi.org/10.1016/j.hrthm.2015.03.033DOI Listing
July 2015

A novel mutation in lamin a/c causing familial dilated cardiomyopathy associated with sudden cardiac death.

J Card Fail 2015 Mar 9;21(3):217-25. Epub 2014 Dec 9.

Cardiovascular Genetics Center, IDIBGI, University of Girona, Girona, Spain; Department of Medical Science, School of Medicine, University of Girona, Girona, Spain; Cardiomyopathy Unit, Hospital Josep Trueta, University of Girona, Girona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.cardfail.2014.12.003DOI Listing
March 2015

Interplay between R513 methylation and S516 phosphorylation of the cardiac voltage-gated sodium channel.

Amino Acids 2015 Feb 16;47(2):429-34. Epub 2014 Dec 16.

Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta, University of Girona, 17003, Girona, Spain,

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http://dx.doi.org/10.1007/s00726-014-1890-0DOI Listing
February 2015

Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant.

Seizure 2015 Feb 9;25:65-7. Epub 2015 Jan 9.

Cardiology Service, Hospital Josep Trueta, Girona, Spain; Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona-IDIBGI, Unversitat de Girona, Girona, Spain; Medical Science Department, School of Medicine, University of Girona, Girona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2015.01.003DOI Listing
February 2015

Determining the pathogenicity of genetic variants associated with cardiac channelopathies.

Sci Rep 2015 Jan 22;5:7953. Epub 2015 Jan 22.

1] Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona (IDIBGI) and Universitat de Girona (UdG), Girona, Spain [2] Medical Science Department, School of Medicine, University of Girona, Girona, Spain [3] Cardiology Service, Hospital Josep Trueta, Girona, Spain.

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http://dx.doi.org/10.1038/srep07953DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302303PMC
January 2015