Research

Articles published in 2019:

• Incomplete Mass Phenotype: Description of a New Pathogenic Variant of the Fibrillin-1 Gene.
  Piqueras-Flores J, Trujillo-Quintero JP, Frías-García R, González-Marín MA, Monserrat L, Hernández-Herrera G.
  Rev Esp Cardiol (Engl Ed). 2019 Apr 30.
• Direct CDKN2 Modulation of CDK4 Alters Target Engagement of CDK4 Inhibitor Drugs.
  Green JL, Okerberg ES, Sejd J, Palafox M, Monserrat L, Alemayehu S1, Wu J, Sykes M, Aban A, Serra V, Nomanbhoy T.
  Mol Cancer Ther. 2019 Apr.
• Risk Stratification in Patients With Nonisquemic Dilated Cardiomyopathy. The Role of Genetic Testing.
  Peña-Peña ML, Monserrat L.
  Rev Esp Cardiol (Engl Ed). 2019 Apr.
• Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives: Evidence for a Change in Paradigm.
  Norrish G, Jager J, Field E, Quinn E, Fell H, Lord E, Cicerchia MN, Ochoa JP, Cervi E, Elliott PM, Kaski JP.
  Circulation. 2019 Apr 22.
• Electrophysiological abnormalities in induced pluripotent stem cell-derived cardiomyocytes generated from Duchenne muscular dystrophy patients.
  Eisen B, Ben Jehuda R, Cuttitta AJ, Mekies LN, Shemer Y, Baskin P, Reiter I, Willi L, Freimark D, Gherghiceanu M, Monserrat L, Scherr M, Hilfiker-Kleiner D, Arad M, Michele DE, Binah O.
  J Cell Mol Med. 2019 Mar
• Response by Sheikh et al to Letter Regarding Article, ‘Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion’.
  Sheikh N, Papadakis M, Wilson M, Malhotra A, Adamuz C, Homfray T, Monserrat L, Behr ER, Sharma S.
  Circulation. 2019 Feb 12.

Articles published until 2018:

• Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation.
  García-García J, Fernández-García MA, Blanco-Arias P, Díaz-Maroto-Cicuendez MI, Salmerón-Martínez F, Hidalgo-Olivares VM, Olivé M.
  Neuromuscul Disord. 2018 Nov.
• Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations.
  Fernando Domínguez, Sofía Cuenca, Zofia Bilińska, Rocío Toro, Eric Villard, Roberto Barriales-Villa, Juan Pablo Ochoa, Folkert Asselbergs, Arjan Sammani, Maria Franaszczyk, Mohammed Akhtar, Maria José Coronado-Albi, Diego Rangel-Sousa, Jose F. Rodriguez-Palomares, Juan Jiménez-Jáimez, José Manuel Garcia-Pinilla, Tomás Ripoll-Vera, Maria Victoria Mogollón-Jiménez, Ana Fontalba-Romero, Dolores Garcia-Medina, Julian Palomino-Doza, David de Gonzalo-Calvo, Marcos Cicerchia, Joel Salazar-Mendiguchia, Clara Salas, Sabine Pankuweit, Thomas Morris Hey, Jens Mogensen, Paul J. Barton, Philippe Charron, Perry Elliott, Pablo Garcia-Pavia, for the European Genetic Cardiomyopathies Initiative Investigators, Hans Eiskjær, Roberto Barriales, Xusto Fernández Fernández, Marcos Cicerchia, Lorenzo Monserrat, Juan Pablo Ochoa, Joel Salazar-Mendiguchia, Maria Victoria Mogollón, Tomás Ripoll, Philippe Charron, Pascale Richard, Eric Villard, Julian Palomino Doza, Ana Fontalba, Luis Alonso-Pulpón, Marta Cobo-Marcos, Fernando Domínguez, Pablo Garcia-Pavia, Manuel Gómez-Bueno, Esther González-López, Aitor Hernández-Hernández, Francisco José Hernández-Pérez, Ángela López-Sainz, Alejandra Restrepo-Córdoba, Javier Segovia-Cubero, Rocio Toro, David de Gonzalo-Calvo, Félix Rosa Longobardo, Javier Limeres, Jose F. Rodriguez-Palomares, Jose Manuel Garcia-Pinilla, Miguel A. López-Garrido, Juan Jiménez-Jaimez, Dolores Garcia-Medina, Diego Rangel Sousa, Maria Luisa Peña, Jens Mogensen, Thomas Morris-Hey, Paul J. Barton, Stuart A. Cook, William Midwinter, Angharad M. Roberts, James S. Ware, Roddy Walsh, Mohammed Akhtar, Perry M. Elliott, Luis Rocha-Lopes, Konstantinos Savvatis, Petros Syrris, Ewa Michalak, Rafal Ploski, Malgorzata Sobieszczanska-Malek, Zofia Bilińska, Sabine Pankuweit, Folkert Asselbergs, Annette Baas, Dennis Dooijes and Arjan Sammani.
  2018 American College of Cardiology Foundation.
• A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome.
  Torrado M, Maneiro E, Trujillo-Quintero JP, Evangelista A, Mikhailov AT, Monserrat L.
  Biomed Res Int. 2018 May 29.
• European expert consensus statement on therapeutic goals in Fabry disease.
  Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes D, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ.
  Mol Genet Metab. 2018 Jul.
• Computerized registry of patients with hemorrhagic hereditary telangiectasia (RiHHTa Registry) in Spain: Objectives, methods, and preliminary results.
  Riera-Mestre A, Mora Luján JM, Sanchez Martínez R, Torralba Cabeza MA, Patier de la Peña JL, Juyol Rodrigo MC, Lopez Wolf D, Ojeda Sosa A, Monserrat L, López Rodríguez M; en representación de los Investigadores del Registro RiHHTa; Miembros del Registro RiHHTa del Grupo de Trabajo en Enfermedades Minoritarias de la Sociedad Española de Medicina Interna.
  Rev Clin Esp. 2018 Sep 1.
• The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease – A systematic literature review by a European panel of experts.
  Spada M, Baron R, Elliott PM, Falissard B, Hilz MJ, Monserrat L, Tøndel C, Tylki-Szymańska A, Wanner C, Germain DP.
  Mol Genet Metab. 2018 Apr 26.
• Diagnostic Yield of Genetic Testing in Young Athletes with T-wave Inversion.
  Sheikh N, Papadakis M, Wilson M, Malhotra A, Adamuz C, Homfray T, Monserrat L, Behr ER, Sharma S.
  Circulation. 2018 May 15.
• Interplay Between Genetic Substrate, QTc Duration, and Arrhythmia Risk in Patients With Long QT Syndrome.
  Mazzanti A, Maragna R, Vacanti G, Monteforte N, Bloise R, Marino M, Braghieri L, Gambelli P, Memmi M, Pagan E, Morini M, Malovini A, Ortiz M, Sacilotto L, Bellazzi R, Monserrat L, Napolitano C, Bagnardi V, Priori SG.
  J Am Coll Cardiol. 2018 Apr 17.
• Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.
  Bermúdez-Jiménez FJ, Carriel V, Brodehl A, Alaminos M, Campos A, Schirmer I, Milting H, Abril BÁ, Álvarez M, López-Fernández S, García-Giustiniani D, Monserrat L, Tercedor L, Jiménez-Jáimez J.
  Circulation. 2018 Apr 10.
• Differential diagnosis of thickened myocardium: an illustrative MRI review.
  Méndez C, Soler R, Rodríguez E, Barriales R, Ochoa JP, Monserrat L.
  Insights Imaging. 2018 Oct 9.

• Modulation of SHBG binding to testosterone and estradiol by sex and morbid obesity.
  Grasa MD, Gulfo J, Camps N, Alcalá R, Monserrat L, Moreno-Navarrete JM, Ortega FJ, Esteve M, Remesar X, Fernández-López JA, Fernández-Real JM, Alemany M.
  Eur J Endocrinol. 2017 Apr.
• Effect of age on pro-inflammatory miRNAs contained in mesenchymal stem cell-derived extracellular vesicles.
  Fafián-Labora J, Lesende-Rodriguez I, Fernández-Pernas P, Sangiao-Alvarellos S, Monserrat L, Arntz OJ, van de Loo FJ, Mateos J, Arufe MC.
  Sci Rep. 2017 Mar 6.
• Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy.
  Dal Ferro M, Stolfo D, Altinier A, Gigli M, Perrieri M, Ramani F, Barbati G, Pivetta A, Brun F, Monserrat L, Giacca M, Mestroni L, Merlo M, Sinagra G.
  Heart. 2017 Nov.
• Corrigendum: Effect of age on pro-inflammatory miRNAs contained in mesenchymal stem cell-derived extracellular vesicles.
  Fafián-Labora J, Lesende-Rodriguez I, Fernández-Pernas P, Sangiao-Alvarellos S, Monserrat L, Arntz OJ, van de Loo FAJ, Mateos J, Arufe MC.
  Sci Rep. 2017 Jun 15.

• Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
  Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L.
  J Am Coll Cardiol. 2016 Dec 6
• Predictors of Atrial Fibrillation in Hypertrophic Cardiomyopathy.
  Guttmann OP, Pavlou M, O’Mahony C, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, Garcia-Pavia P, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators.
  Heart. 2016 Oct 28
• Idiopathic Restrictive Cardiomyopathy Is Primarily a Genetic Disease.
  Gallego-Delgado M, Delgado JF, Brossa-Loidi V, Palomo J, Marzoa-Rivas R, Perez-Villa F, Salazar-Mendiguchía J, Ruiz-Cano MJ, Gonzalez-Lopez E, Padron-Barthe L, Bornstein B, Alonso-Pulpon L, Garcia-Pavia P.
  J Am Coll Cardiol. 2016 Jun 28
• European Cardiomyopathy Pilot Registry: EURObservational Research Programme of the European Society of Cardiology.
  Guttmann OP, Pavlou M, O’Mahony C, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, Garcia-Pavia P, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators.
  Eur Heart J. 2016 Jan 7
• Genetic Basis of Familial Dilated Cardiomyopathy Patients Undergoing Heart Transplantation.
  Cuenca S, Ruiz-Cano MJ, Gimeno-Blanes JR, Jurado A, Salas C, Gomez-Diaz I, Padron-Barthe L, Grillo JJ, Vilches C, Segovia J, Pascual-Figal D, Lara-Pezzi E, Monserrat L, Alonso-Pulpon L, Garcia-Pavia P; Inherited Cardiac Diseases Program of the Spanish Cardiovascular Research Network (Red Investigación Cardiovascular).
  J Heart Lung Transplant. 2016
• Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders.
  Jiménez-Jáimez J, Palomino Doza J, Ortega Á, Macías-Ruiz R, Perin F, Rodríguez-Vázquez Del Rey MM, Ortiz-Genga M, Monserrat L, Barriales-Villa R, Blanca E, Álvarez M, Tercedor L.
  PLoS One. 2016
• Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study).
  Jiménez-Jáimez J, Peinado R, Grima EZ, Segura F, Moriña P, Sánchez Muñoz JJ, Mazuelos F, Cózar R, Gimeno JR, Heras RP, Monserrat L, Domingo D, Ortiz-Genga M, Fernández Pastor J, Álvarez M, Tercedor L.
  Am J Cardiol. 2015 Sep 15
• Prediction of Thrombo-Embolic Risk in Patients with Hypertrophic Cardiomyopathy (HCM Risk-CVA).
  Guttmann OP, Pavlou M, O’Mahony C, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, Garcia-Pavia P, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators.
  Eur J Heart Fail. 2015 Aug
• Phenotype and Prognostic Correlations of the Converter Region Mutations Affecting the Β Myosin Heavy Chain.
  García-Giustiniani D, Arad M, Ortíz-Genga M, Barriales-Villa R, Fernández X, Rodríguez-García I, Mazzanti A, Veira E, Maneiro E, Rebolo P, Lesende I, Cazón L, Freimark D, Gimeno-Blanes JR, Seidman C, Seidman J, McKenna W, Monserrat L.
  Heart. 2015 Jul
• Atlas of the Clinical Genetics of Human Dilated Cardiomyopathy.
  Haas J, Frese KS, Peil B, Kloos W, Keller A, Nietsch R, Feng Z, Müller S, Kayvanpour E, Vogel B, Sedaghat-Hamedani F, Lim WK, Zhao X, Fradkin D, Köhler D, Fischer S, Franke J, Marquart S, Barb I, Li DT, Amr A, Ehlermann P, Mereles D, Weis T, Hassel S, Kremer A, King V, Wirsz E, Isnard R, Komajda M, Serio A, Grasso M, Syrris P, Wicks E, Plagnol V, Lopes L, Gadgaard T, Eiskjær H, Jørgensen M, Garcia-Giustiniani D, Ortiz-Genga M, Crespo-Leiro MG, Deprez RH, Christiaans I, van Rijsingen IA, Wilde AA, Waldenstrom A, Bolognesi M, Bellazzi R, Mörner S, Bermejo JL, Monserrat L, Villard E, Mogensen J, Pinto YM, Charron P, Elliott P, Arbustini E, Katus HA, Meder B.
  Eur Heart J. 2015 May 7
• Novel Genotype-Phenotype Associations Demonstrated by High-Throughput Sequencing in Patients with Hypertrophic Cardiomyopathy.
  Lopes LR, Syrris P, Guttmann OP, O’Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM.
  Heart. 2015 Feb
• The Alpha-galactosidase A p.Arg118Cys Variant Does Not Cause a Fabry Disease Phenotype: Data from Individual Patients and Family Studies.
  Ferreira S, Ortiz A, Germain DP, Viana-Baptista M, Caldeira-Gomes A, Camprecios M, Fenollar-Cortés M, Gallegos-Villalobos Á, Garcia D, García-Robles JA, Egido J, Gutiérrez-Rivas E, Herrero JA, Mas S, Oancea R, Péres P, Salazar-Martín LM, Solera-Garcia J, Alves H, Garman SC, Oliveira JP.
  Mol Genet Metab. 2015 Feb
• Genetics of Cardiomyopathies: Novel Perspectives with Next Generation Sequencing.
  Monserrat L, Ortiz-Genga M, Lesende I, Garcia-Giustiniani D, Barriales-Villa R, de Una-Iglesias D, Syrris P, Castro-Beiras A.
  Curr Pharm Des. 2015
• A Novel Clinical Risk Prediction Model for Sudden Cardiac Death in Hypertrophic Cardiomyopathy (HCM Risk-SCD).
  O’Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, McKenna WJ, Omar RZ, Elliott PM; for the Hypertrophic Cardiomyopathy Outcomes Investigators.
  Eur Heart J. 2014 Aug 7
• Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
  Ezquieta B, Santomé JL, Carcavilla A, Guillén-Navarro E, Pérez-Aytés A, Sánchez del Pozo J, García-Miñaur S, Castillo E, Alonso M, Vendrell T, Santana A, Maroto E, Galbis L.
  Rev Esp Cardiol (Engl Ed). 2012 May
• The Interpretation of Genetic Tests in Inherited Cardiovascular Diseases.
  Monserrat L, Mazzanti A, Ortiz-Genga M, Barriales-Villa R, Garcia D, Gimeno-Blanes JR.
  Cardiogenetics 2011
• The Interpretation of Genetic Tests in Inherited Cardiovascular Diseases.
  Monserrat L, Mazzanti A, Ortiz-Genga M, Barriales-Villa R, Garcia D, Gimeno-Blanes JR.
  Int J Cardiol. 2010
• Cardiac Challenges in Patients with Fabry Disease.
  Weidemann F, Linhart A, Monserrat L, Strotmann J.
  Eur Heart J 2010 Nov
• Genetic Counselling and Testing in Cardiomyopathies: A Position Statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.
  Charron P, Arad M, Arbustini E, Basso C, Bilinska Z, Elliott P, Helio T, Keren A, McKenna WJ, Monserrat L, Pankuweit S, Perrot A, Rapezzi C, Ristic A, Seggewiss H, van Langen I, Tavazzi L.
  Int J Cardiol. 2010 Nov 19
• The R820W Mutation in the MYBPC3 Gene, Associated with Hypertrophic Cardiomyopathy in Cats, Causes Hypertrophic Cardiomyopathy and Left Ventricular Non-Compaction in Humans.
  Ripoll Vera T, Monserrat Iglesias L, Hermida Prieto M, Ortiz M, Rodriguez Garcia I, Govea Callizo N, Gómez Navarro C, Rosell Andreo J, Gámez Martínez JM, Pons Lladó G, Cremer Luengos D, Torres Marqués J.
  Int J Cardiol. 2010 Nov 19
• Insights into Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy. Findings from 18 Spanish Families with a Single Mutation in MYBPC3.
  Oliva-Sandoval MJ, Ruiz-Espejo F, Monserrat L, Hermida-Prieto M, Sabater M, García-Molina E, Ortiz M, Rodríguez-García MI, Núñez L, Gimeno JR, Castro-Beiras A, Valdés M.
  Heart. 2010
• Classification of the Cardiomyopathies: A Position Statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.
  Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, Dubourg O, Kühl U, Maisch B, McKenna WJ, Monserrat L, Pankuweit S, Rapezzi C, Seferovic P, Tavazzi L, Keren A.
  Eur Heart J 2008
• Left Ventricular Noncompaction: A Disease in Search of a Definition.Monserrat L.
  Rev Esp Cardiol 2008
• Mutation in the Alpha-Cardiac Actin Gene Associated with Apical Hypertrophic Cardiomyopathy, Left Ventricular Non-Compaction, and Septal Defects.
  Monserrat L, Hermida-Prieto M, Fernandez X, Rodríguez I, Dumont C, Cazón L, Cuesta MG, Gonzalez-Juanatey C, Peteiro J, Alvarez N, Penas-Lado M, Castro-Beiras A.
  Eur Heart J. 2007 Aug
• Prevelence of Fabry Disease in a Cohort of 508 Unrelated Patients With Hypertrophic Cardiomyopathy.
  Monserrat L, Gimeno-Blanes JR, Marín F, Hermida-Prieto M, García-Honrubia A, Perez I, Fernandez X, de Nicolas R, de la Morena G, Paya E, Yagüe J, Egido J.
  J Am Coll Cardiol 2007
• Interpretation of Electrocardiographic Abnormalities in Hypertrophic Cardiomyopathy with Cardiac Magnetic Resonance.
  Dumont CA, Monserrat L, Soler R, Rodríguez E, Fernandez X, Peteiro J, Bouzas A, Bouzas B, Castro-Beiras A.
  Eur Heart J. 2006
• The Implantable Cardioverter-Defibrillator and Hypertrophic Cardiomyopathy. Experience at Three Centers.
  Marin F, Gimeno JR, Paya E, Garcia-Alberola JR, Perez-Alvarez L, Fernández X, de la Morena G, Sogorb F, Castro-Beiras A, Valdes M, Martinez JG, Monserrat L.
  Rev Esp Cardiol. 2006
• Gene Mutations in Apical Hypertrophic Cardiomyopathy.
  Arad M, Penas Lado M, Monserrat L, Maron BJ, Sherrid M, Ho CY, Barr S, Karim A, Olson TM, Kamisago M, Seidman JG, Seidman CE.
  Circulation. 2005 Nov 1
• Familial Dilated Cardiomyopathy and Isolated Left Ventricular Non-Compaction Associated with Lamin A/C Gene Mutations.
  Monserrat, A Castro-Beiras, R Laredo, R Soler, J Peteiro, E Rodríguez, B Bouzas, N Álvarez, J Muñiz, M Crespo-Leiro.
  Am J Cardiol 2004
• Hypertrophic Cardiomyopathy and Outflow Tract Obstruction.
  L Monserrat, M Penas-Lado, A Castro-Beiras, K Iqbal, NA Tramboo, K Mohi-Ud-Din, DM Spevack, MS Maron, I Olivotto, BJ Maron.
  N Engl J Med 2003
• Non-Sustained Ventricular Tachycardia in Hypertrophic Cardiomyopathy: An Independent Marker of Sudden Death Risk in Young Patients.
  L Monserrat, PM Elliott, JR Gimeno, S Sharma, M Penas-Lado, WJ McKenna.
  J Am Coll Cardiol. 2003 Sep 3
• Sudden Death in Hypertrophic Cardiomyopathy: Identification of High Risk Patients.
  PM Elliott, J Poloniecki, S Dickie, S Sharma, L Monserrat, A Varnava, NG Mahon, WJ McKenna. J.
  J Am Coll Cardiol. 2000 Dec

• LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
  Carcavilla A, Santomé JL, Pinto I, Sánchez-Pozo J, Guillén-Navarro E, Martín-Frías M, Lapunzina P, Ezquieta B.
  Rev Esp Cardiol (Engl Ed). 2013 May
• A case of Noonan Syndrome with coeliac disease due to SOS1 mutation.
  Carcavilla Urquí A, Santomé Collazo JL, Barrio Castellanos R, Ezquieta Zubicaray B.
  Med Clin (Barc). 2011 Nov 26
• Miocardiopatía Dilatada Familiar en Pacientes Trasplantados por Miocardiopatía Dilatada Idiopática.
  L Monserrat, M Hermida, B Bouzas, I Mosquera, N Mahon, J Peteiro, N Álvarez, M Penas-Lado, MG Crespo, A Castro-Beiras.
  Rev Esp Cardiol. 2002 Jul
• Clinical Exome Sequencing: Results from 2819 Samples Reflecting 1000 Families.
  Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R.
  Eur J Hum Genet. 2017
• MRI of Subendocardial Perfusion Deficits in Isolated Left Ventricular Noncompaction.
  R Soler, E Rodríguez, L Monserrat, N Álvarez.
  J Comput Assist Tomogr. 2002 May-Jun
• Miocardiopatía Dilatada Familiar: Situación Clínica Actual y Beneficios Clínicos de la Investigación Básica.
  A Castro-Beiras, L Monserrat, M Hermida.
  Rev Esp Cardiol. 2003
• Magnetic Resonance Imaging of Delayed Enhancement in Hypertrophic Cardiomyopathy: Relationship with Left Ventricular Perfusion and Contractile Function.
  Soler R, Rodriguez E, Monserrat L, Mendez C, Martinez C.
  J Comput Assist Tomogr. 2006
• Beta-Myosin Heavy-Chain Gene Mutations in Patients with Hypertrophic Cardiomyopathy.
  Laredo R, Monserrat L, Hermida-Prieto M, Fernandez X, Rodriguez I, Cazon L, Alvariño I, Dumont C, Piñon P, Peteiro J, Bouzas B, Castro-Beiras A.
  Rev Esp Cardiol 2006
• Clinical Significance of Late Gadolinium Enhancement on Cardiovascular Magnetic Resonance in Patients with Hypertrophic Cardiomyopathy.
  Dumont CA, Monserrat L, Soler R, Rodríguez E, Fernández X, Peteiro J, Bouzas B, Piñón P, Castro-Beiras A.
  Rev Esp Cardiol. 2007
• Relation of Left Ventricular Chamber Stiffness at Rest to Exercise Capacity in Hypertrophic Cardiomyopathy.
  Dumont CA, Monserrat L, Peteiro J, Soler R, Rodriguez E, Bouzas A, Fernandez X, Pérez R, Bouzas B, Castro-Beiras A.
  Am J Cardiol. 2007
• Left Ventricular Asynchrony in Patients with Hypertrophic Cardiomyopathy: Its Determinants and its Relation to Left Ventricular Function.
  Dumont CA, Monserrat L, Soler R, Rodríguez E, Peteiro J, Fernández X, Rodríguez A, Pérez R, Bouzas B, Castro-Beiras A.
  J Am Soc Echocardiogr 2007
• Avances en Miocardiopatía Dilatada Idiopática: Del Genotipo al Fenotipo Clínico.
  Monserrat L, Hermida-Prieto M, Castro-Beiras A.
  Rev Esp Cardiol Supl F 2007
• Sudden Death in a Patient with Lamin A/C Gene Mutation and Near Normal Left Ventricular Systolic Function.
  X Fernández, C Dumont, L Monserrat, M Hermida-Prieto, A Castro-Beiras.
  Int J Cardiol. 2008 May 7
• Mutación en Homocigosis en el Gen MYBPC3 Asociada a Fenotipos Severos y Alto Riesgo de Muerte Súbita en una Familia con Miocardiopatía Hipertrófica.
  Ortiz M, Rodríguez-García MI, Hermida-Prieto M, Fernández X, Veira E, Barriales-Villa R, Castro-Beiras A, Monserrat L.
  Rev Esp Cardiol 2009
• Severe Cardiac Conduction Disturbances and Pacemaker Implantation in Patients with Hypertrophic Cardiomyopathy.
  Barriales-Villa R, Centurión-Inda R, Fernández-Fernández X, Ortiz MF, Pérez-Alvarez L, Rodríguez García I, Hermida-Prieto M, Monserrat L.
  Rev Esp Cardiol. 2010
• Novel Missense Mutations in Exon 15 Of Desmoglein-2: Role of the Intracellular Cadherin Segment in Arrhythmogenic Right Ventricular Cardiomyopathy?.
  Gehmlich K, Asimaki A, Cahill T, Ehler E, Syrris P, Zachara E, Re F, Avella A, Monserrat L, Saffitz JE, McKenna WJ.
  Heart Rhythm. 2010 Oct
• Screening Mutations in Myosin Binding Protein C3 Gene in a Cohort of Patients with Hypertrophic Cardiomyopathy.
  Rodríguez-García MI, Monserrat L, Ortiz M, Fernández X, Cazón L, Núñez L, Barriales-Villa R, Maneiro E, Veira E, Castro-Beiras A, Hermida-Prieto M.
  BMC Med Genet. 2010
• Cardiotrophin-1 Plasma Levels are Associated with the Severity of Hypertrophy in Hypertrophic Cardiomyopathy.
  Monserrat L, López B, González A, Hermida M, Fernández X, Ortiz M, Barriales-Villa R, Castro-Beiras A, Díez J.
  Eur Heart J. 2011
• Molecular Mechanism of the E99K Mutation in Cardiac Actin (ACTC Gene) that Causes Apical Hypertrophy in Man and Mouse.
  Song W, Dyer E, Stuckey DJ, Copeland O, Leung MC, Bayliss C, Messer A, Wilkinson R, Tremoleda JL, Schneider MD, Harding SE, Redwood CS, Clarke K, Nowak K, Monserrat L, Wells D, Marston SB.
  J Biol Chem. 2011
• Prevalence of Anderson-Fabry Disease in Patients with Hypertrophic Cardiomyopathy: The European Anderson-Fabry Disease Survey.
  Elliott P, Baker R, Pasquale F, Quarta G, Ebrahim H, Mehta AB, Hughes DA; ACES study group.
  Heart. 2011
• Left Ventricular Hypertrophy in Fabry Disease: A Practical Approach to Diagnosis.
  Yousef Z, Elliott PM, Cecchi F, Escoubet B, Linhart A, Monserrat L, Namdar M, Weidemann F.
  Eur Heart J. 2013 Mar
• P.D1690N Nav1.5 Rescues P.G1748D Mutation Gating Defects in a Compound Heterozygous Brugada Syndrome Patient.
  Núñez L, Barana A, Amorós I, González de la Fuente M, Dolz-Gaitón P, Gómez R, Rodríguez-García I, Mosquera I, Monserrat L, Delpón E, Caballero R, Castro-Beiras A, Tamargo J.
  Heart Rhythm. 2013 Feb
• Mutations in the NOTCH Pathway Regulator MIB1 Cause Left Ventricular Noncompaction Cardiomyopathy.
  Luxán G, Casanova JC, Martínez-Poveda B, Prados B, D’Amato G, MacGrogan D, Gonzalez-Rajal A, Dobarro D, Torroja C, Martinez F, Izquierdo-García JL, Fernández-Friera L, Sabater-Molina M, Kong YY, Pizarro G, Ibañez B, Medrano C, García-Pavía P, Gimeno JR, Monserrat L, Jiménez-Borreguero LJ, de la Pompa JL.
  Nat Med. 2013 Feb
• A Mutation in the Z-Line Cypher/ZASP Protein Is Associated with Arrhythmogenic Right Ventricular Cardiomyopathy.
  Lopez-Ayala JM, Ortiz-Genga M, Gomez-Milanes I, Lopez-Cuenca D, Ruiz-Espejo F, Sanchez-Munoz JJ, Oliva-Sandoval MJ, Monserrat L, Gimeno JR.
  Clin Genet. 2015 Aug
• Desmoplakin Truncations and Arrhythmogenic Left Ventricular Cardiomyopathy: Characterizing a Phenotype.
  López-Ayala JM, Gómez-Milanés I, Sánchez Muñoz JJ, Ruiz-Espejo F, Ortíz M, González-Carrillo J, López-Cuenca D, Oliva-Sandoval MJ, Monserrat L, Valdés M, Gimeno JR.
  Europace. 2014 Dec
• The Structural Effects of Mutations Can Aid in Differential Phenotype Prediction of Beta-Myosin Heavy Chain (Myosin-7) Missense Variants.
  Al-Numair NS, Lopes L, Syrris P, Monserrat L, Elliott P, Martin AC.
  Bioinformatics. 2016 Oct 1
• Prognostic Role of Stress Echocardiography in Hypertrophic Cardiomyopathy: The International Stress Echo Registry.
  Ciampi Q, Olivotto I, Gardini C, Mori F, Peteiro J, Monserrat L, Fernandez X, Cortigiani L, Rigo F, Lopes LR, Cruz I, Cotrim C, Losi M, Betocchi S, Beleslin B, Tesic M, Dikic AD, Lazzeroni E, Lazzeroni D, Sicari R, Picano E.
  Int J Cardiol. 2016 Sep 15
• Validation of the 2014 European Society of Cardiology Sudden Cardiac Death Risk Prediction Model in Hypertrophic Cardiomyopathy in a Reference Center in South America.
  Fernández A, Quiroga A, Ochoa, JP, Mysuta, M., Casabé, J. H., Biagetti, M., (…)Galizio, N.
  The American Journal of Cardiology 2016
• Genetic Evaluation, Familial Screening and Exercise.
  Stein, R.; Trujillo JP.; Silveira A.; Lamounier Jr, A.; Monserrat-Iglesias L.
  Arquivos Brasileiros de Cardiologia. 2016
• Direct Oral Anticoagulants in Patients with Hypertrophic Cardiomyopathy and Atrial Fibrillation.
  Fernando Dominguez, Vicente Climent, Esther Zorio, Tomás Ripoll-Vera, Joel Salazar-Mendiguchía, Jose Manuel García-Pinilla, Jose Angel Urbano-Moral, Xusto Fernández-Fernández, David Lopez-Cuenca, Raquel Ajo-Ferrer, Jorge Sanz-Sanchez, Yolanda Gomez-Perez, Miguel A. López-Garrido, Roberto Barriales-Villa, Juan Ramón Gimeno, Pablo Garcia-Pavia.
  In Press, Accepted Manuscript, Available online 7 August 2017

• Extensa Familia con Síndrome de Marfan en la que se Demuestra la Patogenicidad de una Variante «Sinónima» (p.Ile2118=) en el Gen de la Fibrilina 1.
  Trujillo-Quintero JP, Herrera-Noreña JM, Mosquera-Rodríguez VX, Fernández-Fernández X, Vázquez-Rodríguez JM, Barriales-Villa R.
  Rev Esp Cardiol., 31 October 2016
• Inverted U-Shaped Relation Between the Risk of Sudden Cardiac Death and Maximal Left Ventricular Wall Thickness in Hypertrophic Cardiomyopathy.
  O’Mahony C, Jichi F, Monserrat L, Ortiz-Genga M, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators*.
  Circ Arrhythm Electrophysiol. 2016 Jun
• Genetics of Dyslipidemia.
  García-Giustiniani D, Stein R.
  Arq Bras Cardiol. 2016 May
• Coronary Embolization in Hypertrophic Cardiomyopathy with Left Ventricular Apical Aneurysm: Does Follow-up with Cardiac Magnetic Resonance Have a Role?.
  Claver E, Salazar-Mendiguchía J, Cequier A.
  Am J Cardiol. 2015 Aug 1
• Exercise Echocardiography and Cardiac Magnetic Resonance Imaging to Predict Outcome in Patients with Hypertrophic Cardiomyopathy.
  Peteiro J, Fernandez X, Bouzas-Mosquera A, Monserrat L, Méndez C, Rodriguez-Garcia E, Soler R, Couto D, Castro-Beiras A.
  Eur Heart J Cardiovasc Imaging. 2015 Apr;16
• “Diagnóstico y Tratamiento de la Miocardiopatía Hipertrófica: Comparación de las Guías Europeas y Americanas”.
  Peña ML, Palomino J, Ochoa JP, Barriales-Vila R.
  Cardiocore.2015
• Anthracycline-Mediated Cardiomyopathy: Basic Molecular Knowledge for the Cardiologist.
  Salazar-Mendiguchía J, González-Costello J, Roca J, Ariza-Solé A, Manito N, Cequier A.
  Arch Cardiol. Mex. 2014 Jul-Sep
• The Influence of Aortoseptal Angulation on Provocable Left Ventricular Outflow Tract Obstruction in Hypertrophic Cardiomyopathy.
  Critoph CH, Pantazis A, Tome Esteban MT, Salazar-Mendiguchía J, Pagourelias ED, Moon JC, Elliott, PM.
  Open Heart. 2014 Oct 30
• Merits and Pitfalls of Genetic Testing in a Hypertrophic Cardiomyopathy Clinic.
  Arad M, Monserrat L, Haron-Khun S, Seidman JG, Seidman CE, Arbustini E, Glikson M, Freimark D.
  Isr Med Assoc J. 2014 Nov
• Prognostic Value of Exercise Echocardiography in Patients with Hypertrophic Cardiomyopathy.
  Peteiro J, Bouzas-Mosquera A, Fernandez X, Monserrat L, Pazos P, Estevez-Loureiro R, Castro-Beiras A.
  J Am Soc Echocardiogr. 2012 Feb
• A Novel MYH7 Mutation Links Congenital Fibre Type Disproportion and Myosin Storage Myopathy.
  Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M, Delague V, Lévy N, Fernández JM, Carracedo A, Navarro C, Sobrido MJ.
  Neuromuscular Disorders. A, Vol 21:254-62, 2011
• A 17-year-old Male with Left Ventricular Hypertrophy: He Who Does Not Know What He Is Searching for Will Not Understand What He Finds.
  Arévalo A, Rivera S, de la Cruz J, Barriales R, Montserrat L.
  Rev Clin Esp. 2011
• Magnetic Resonance Imaging of Abnormal Ventricular Septal Motion in Heart Diseases: A Pictorial Review.
  Méndez C, Soler R, Rodriguez E, López M, Alvarez L, Fernández N, Montserrat L.
  Insights Imaging. 2011
• Brugada Syndrome.
  Barriales-Villa R, Ortiz MF, García DA.
  Rev Esp Cardiol. 2010
• Novel Human Pathological Mutations. Gene Symbol: MYBPC3. Disease: Cardiomyopathy, Hypertrophic.
  Rodriguez-Garcia MI, Monserrat L, Ortiz M, Fernández X, Cazón L, Núñez L, Barriales-Villa R, Maneiro E, Veira E, Castro-Beiras A, Hermida-Prieto M.
  Hum Genet. 2010 Apr
• Novedades en Cardiología Clínica: Patología de la Aorta, Miocardiopatía Hipertrófica y Profilaxis de la Endocarditis Infecciosa.
  Borras X, Gallego P, Monserrat L.
  Rev Esp Cardiol 2009
• What Do Tachycardiomyopathy Belong to? Reply.
  Elliott P; and on behalf of the following co-authors:, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, Dubourg O, Kühl U, Maisch B, McKenna WJ, Monserrat L, Pankuweit S, Rapezzi C, Seferovic P, Tavazzi L, Keren A.
  Eur Heart J 2008 Mar 27
• The New European Definition of Cardiomyopathies: Which Space for Muscle Dystrophies? Reply.
  Elliott P; and on behalf of the following co-authors:, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, Dubourg O, Kühl U, Maisch B, McKenna WJ, Monserrat L, Pankuweit S, Rapezzi C, Seferovic P, Tavazzi L, Keren A.
  Eur Heart J 2008 May 15
• Apical Hypertrophic Cardiomyopathy and Left Ventricular Non-Compaction: Two Faces of the Same Disease.
  Monserrat L, Barriales-Villa R, Hermida-Prieto M.
  Heart 2008
• Distinct Phenotypic Features and Gender-Specific Disease Manifestations in a Spanish Family with Desmin L370P Mutation.
  Arias M, Pardo J, Blanco-Arias P, Sobrido MJ, Arias S, Dapena D, Carracedo A, Goldfarb LG, Navarro C.
  Neuromuscular Disorders. A, Vol 16, 498-503, 2006
• Standard Mutation Nomenclature in Hypertrophic Cardiomyopathy: An Urgent Need.
  Hermida-Prieto M, Laredo R, Monserrat L, Castro-Beiras A.
  J Am Coll Cardiol 2005
• Mitochondrial Dysfunction in Osteoarthritis.
  Blanco FJ, López-Armada MJ, Maneiro E.
  Mitochondrion. 2004 Sep
• Feasibility of Pulsed-Doppler Tissue Imaging of the Interventricular Septum During Exercise Echocardiography.
  Peteiro J, Monserrat L, Perez Z, Rodríguez JA, Castro-Beiras A.
  Echocardiography. 2002 May
• Identificación y Tratamiento de los Pacientes con Miocardiopatía Hipertrófica y Riesgo de Muerte Súbita.
  William J McKenna, Lorenzo Monserrat.
  Rev Esp Cardiol. 2000
• Estimulación Secuencial en la Miocardiopatía Hipertrófica Obstructiva. ¿Qué Pacientes se Benefician?.
  Lorenzo Monserrat, Manuel Penas-Lado, Alfonso Castro-Beiras.
  Rev Esp Cardiol. 2000

• Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 Mutations in Sporadic Hypertrophic Cardiomyopathy.
  Núñez L, Gimeno-Blanes JR, Rodríguez-García MI, Monserrat L, Zorio E, Coats C, McGregor CG, Hernandez Del Rincón JP, Castro-Beiras A, Hermida-Prieto M. Circ J.
  Circ J. 2013
• Los Estudios Genéticos en la Prevención de la Muerte Súbita: ¿Realidad o Ficción?.
  Barriales-Villa R, Mazzanti A, Monserrat L.
  Cardiocore 2012
• A Family with Recurrent Sudden Death and no Clinical Clue.
  Arad M, Glikson M, El-Ani D, Monserrat L.
  Ann Noninvasive Electrocardiol. 2012 Oct
• Renal Function Improvement after Conversion to Proliferation Signal Inhibitors During Long-term Follow-up in Heart Transplant Recipients.
  Kaplinsky E, González-Costello J, Manito N, Roca J, Barbosa MJ, Nebot M, Salazar-Mendiguchia J, Berdejo J, Mañas P, Miralles A, Cequier A.
  Transplant Proc. 2012 Nov
• An Unusual Complication of a Takotsubo Cardiomyopathy: A Not so Benign Disease?.
  Salazar-Mendiguchía J, Ariza A, Sánchez JC, Lorente V, Cequier AR.
  Int J Cardiol. 2011 Aug 4
• Genética, Muerte Súbita y Deporte.
  Barriales-Villa R, Ortiz MF, Garcia D, Monserrat L.
  Archivos de Medicina del Deporte 2011
• Genética del Síndrome de Marfan.
  Barriales-Villa R, García-Justiniani D, Monserrat L.
  Cardiocore 2011
• Stress Cardiomyopathy or Takotsubo Syndrome.
  Barriales-Villa VR, Ortiz MF, De la Hera JM.
  Heart. 2009
• Value of Resting and Exercise Mitral Regurgitation during Exercise Echocardiography to Predict Outcome in Patients with Left Ventricular Dysfunction.
  Peteiro J, Monserrat L, Piñon P, Bouzas A, Campos R, Mosquera I, Mariñas J, Bouzas B, Castro Beiras A.
  Rev Esp Cardiol. 2007
• Risk Stratification by Treadmill Exercise Echocardiography.
  Peteiro JC, Monserrat L, Bouzas A, Pinon P, Marinas J, Bouzas B, Castro-Beiras A.
  J Am. Soc. Echocardiogr. 2006
• Effect of Nitric Oxide on Mitochondrial Respiratory Activity of Human Articular Chondrocytes.
  Maneiro E, López-Armada MJ, de Andres MC, Caramés B, Martín MA, Bonilla A, Del Hoyo P, Galdo F, Arenas J, Blanco FJ.
  Ann Rheum Dis. 2005 Mar
• Mitochondrial Respiratory Activity Is Altered in Osteoarthritic Human Articular Chondrocytes.
  Maneiro E, Martín MA, de Andres MC, López-Armada MJ, Fernández-Sueiro JL, Del Hoyo P, Galdo F, Arenas J, Blanco FJ.
  Arthritis Rheum. 2003 Mar
• Hopes and Experiences in the Treatment of Severe Pulmonary Hypertension.
  L Monserrat, M Penas-Lado, A Castro-Beiras.
  Rev Esp Cardiol 2003
• Exercise Echocardiography to Differenciate Dilated Cardiomyopathy from Ischemic Left Ventricular Dysfunction.
  J Peteiro, L Monserrat, E Vázquez, R Calviño, JM Vázquez, R Fábregas, J Salgado, JA Rodríguez-Fernández, A Castro-Beiras.
  Rev Esp Cardiol 2003
• Labil Subaortic Obstruction during Exercise Stress Echocardiography.
  Jesús Peteiro, Lorenzo Monserrat, Alfonso Castro-Beiras.
  Am J Cardiol 1999