Search Results - "Ramon Brugada"

Unmasking the molecular link between arrhythmogenic cardiomyopathy and Brugada syndrome by Moncayo-Arlandi, Javier, Brugada, Ramon

“…Several macromolecular structures coexist in the intercalated discs, which connect cardiomyocytes and control cell-to-cell communication. In this Perspectives…”
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Update on the Genetic Basis of Sudden Unexpected Death in Epilepsy by Coll, Monica, Oliva, Antonio, Grassi, Simone, Brugada, Ramon, Campuzano, Oscar

“…Epilepsy is a common neurological disorder associated with increased morbidity and mortality. Sudden unexpected death in epilepsy, also known as SUDEP, is the…”
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The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe by Fernandez-Falgueras, Anna, Coll, Monica, Iglesias, Anna, Tiron, Coloma, Campuzano, Oscar, Brugada, Ramon

“…Inherited cardiovascular diseases are rare diseases that are difficult to diagnose by non-expert professionals. Genetic analyses play a key role in the…”
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Update on Genetic Basis of Brugada Syndrome: Monogenic, Polygenic or Oligogenic? by Campuzano, Oscar, Sarquella-Brugada, Georgia, Cesar, Sergi, Arbelo, Elena, Brugada, Josep, Brugada, Ramon

“…Brugada syndrome is a rare inherited arrhythmogenic disease leading to ventricular fibrillation and high risk of sudden death. In 1998, this syndrome was…”
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Phenotypical Manifestations of Mutations in the Genes Encoding Subunits of the Cardiac Sodium Channel by Wilde, Arthur A.M, Brugada, Ramon

“…Variations in the gene encoding for the major sodium channel (Nav1.5) in the heart, SCN5A, has been shown to cause a number of arrhythmia syndromes (with or…”
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Current electrocardiographic criteria for diagnosis of Brugada pattern: a consensus report by Bayés de Luna, Antonio, MD, PhD, Brugada, Josep, MD, PhD, Baranchuk, Adrian, MD, Borggrefe, Martin, MD, Breithardt, Guenter, MD, Goldwasser, Diego, MD, Lambiase, Pier, MD, Riera, Andrés Pérez, MD, PhD, Garcia-Niebla, Javier, RN, Pastore, Carlos, MD, PhD, Oreto, Giuseppe, MD, McKenna, William, MD, Zareba, Wojciech, MD, PhD, Brugada, Ramon, MD, PhD, Brugada, Pedro, MD, PhD

“…Abstract Brugada syndrome is an inherited heart disease without structural abnormalities that is thought to arise as a result of accelerated inactivation of Na…”
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Premature Termination Codon in 5' Region of Desmoplakin and Plakoglobin Genes May Escape Nonsense-Mediated Decay through the Reinitiation of Translation by Vallverdú-Prats, Marta, Brugada, Ramon, Alcalde, Mireia

“…Arrhythmogenic cardiomyopathy is a heritable heart disease associated with desmosomal mutations, especially premature termination codon (PTC) variants. It is…”
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Pharmacological and non-pharmacological therapy for arrhythmias in the pediatric population: EHRA and AEPC-Arrhythmia Working Group joint consensus statement by Brugada, Josep, Blom, Nico, Sarquella-Brugada, Georgia, Blomstrom-Lundqvist, Carina, Deanfield, John, Janousek, Jan, Abrams, Dominic, Bauersfeld, Urs, Brugada, Ramon, Drago, Fabrizio, de Groot, Natasja, Happonen, Juha-Matti, Hebe, Joachim, Yen Ho, Siew, Marijon, Eloi, Paul, Thomas, Pfammatter, Jean-Pierre, Rosenthal, Eric

“…In children with structurally normal hearts, the mechanisms of arrhythmias are usually the same as in the adult patient. Some arrhythmias are particularly…”
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Gender Differences in Clinical Manifestations of Brugada Syndrome by Benito, Begoña, MD, Sarkozy, Andrea, MD, Mont, Lluis, MD, PhD, Henkens, Stephan, RN, Berruezo, Antonio, MD, Tamborero, David, BEng, Arzamendi, Dabit, MD, Berne, Paola, MD, Brugada, Ramon, MD, PhD, Brugada, Pedro, MD, PhD, Brugada, Josep, MD, PhD

“…Objectives We sought to assess differences in phenotype and prognosis between men and women in a large population of patients with Brugada syndrome. Background…”
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HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies by Ackerman, Michael J., MD, PhD, Priori, Silvia G., MD, PhD, Willems, Stephan, MD, PhD, Berul, Charles, MD, FHRS, CCDS, Brugada, Ramon, MD, PhD, Calkins, Hugh, MD, FHRS, CCDS, Camm, A. John, MD, FHRS, Ellinor, Patrick T., MD, PhD, Gollob, Michael, MD, Hamilton, Robert, MD, CCDS, Hershberger, Ray E., MD, Judge, Daniel P., MD, Le Marec, Hervè, MD, McKenna, William J., MD, Schulze-Bahr, Eric, MD, PhD, Semsarian, Chris, MBBS, PhD, Towbin, Jeffrey A., MD, Watkins, Hugh, MD, PhD, Wilde, Arthur, MD, PhD, Wolpert, Christian, MD, Zipes, Douglas P., MD, FHRS

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The brain–heart interaction in epilepsy: implications for diagnosis, therapy, and SUDEP prevention by Costagliola, Giorgio, Orsini, Alessandro, Coll, Monica, Brugada, Ramon, Parisi, Pasquale, Striano, Pasquale

“…The influence of the central nervous system and autonomic system on cardiac activity is being intensively studied, as it contributes to the high rate of…”
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Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances by Fernández-Falgueras, Anna, Sarquella-Brugada, Georgia, Brugada, Josep, Brugada, Ramon, Campuzano, Oscar

“…Sudden cardiac death poses a unique challenge to clinicians because it may be the only symptom of an inherited heart condition. Indeed, inherited heart…”
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Letter to the editor on “The epidemiology of infective endocarditis with focus on non-device related right-sided infective endocarditis: A retrospective register-based study in the region of Southern Denmark” by Lassen et al by Vilardell, Pau, Moral, Sergio, Brugada, Ramon

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Alterations in Calcium Handling Are a Common Feature in an Arrhythmogenic Cardiomyopathy Cell Model Triggered by Desmosome Genes Loss by Vallverdú-Prats, Marta, Carreras, David, Pérez, Guillermo J, Campuzano, Oscar, Brugada, Ramon, Alcalde, Mireia

“…Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by fibrofatty replacement of the myocardium. Deleterious variants in…”
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Severe Aortic Stenosis Associated with Other Valve Diseases: Open Surgery or Percutaneous Treatment? by Moral, Sergio, Abulí, Marc, Ballesteros, Esther, Vilardell, Pau, Gutiérrez, Laura, Brugada, Ramon

“…Treatment decisions in the context of severe aortic stenosis (AS) associated with other valvular heart diseases (VHDs) have become a major challenge in recent…”
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Valvulopathies and Genetics: Where are We? by Coll, Mònica, Fernández-Falgueras, Anna, Iglesias, Anna, Brugada, Ramon

“…Valvulopathies are among the most common cardiovascular diseases, significantly increasing morbidity and mortality. While many valvular heart diseases are…”
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Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies by Grassi, Simone, Campuzano, Oscar, Coll, Mònica, Cazzato, Francesca, Sarquella-Brugada, Georgia, Rossi, Riccardo, Arena, Vincenzo, Brugada, Josep, Brugada, Ramon, Oliva, Antonio

“…Inherited cardiomyopathies are frequent causes of sudden cardiac death (SCD), especially in young patients. Despite at the autopsy they usually have…”
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Sodium channel current loss of function in induced pluripotent stem cell-derived cardiomyocytes from a Brugada syndrome patient by Selga, Elisabet, Sendfeld, Franziska, Martinez-Moreno, Rebecca, Medine, Claire N., Tura-Ceide, Olga, Wilmut, Sir Ian, Pérez, Guillermo J., Scornik, Fabiana S., Brugada, Ramon, Mills, Nicholas L.

“…Brugada syndrome predisposes to sudden death due to disruption of normal cardiac ion channel function, yet our understanding of the underlying cellular…”
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Recent Advances in Short QT Syndrome by Campuzano, Oscar, Sarquella-Brugada, Georgia, Cesar, Sergi, Arbelo, Elena, Brugada, Josep, Brugada, Ramon

“…Short QT syndrome is a highly malignant inherited cardiac disease characterized by ventricular tachyarrhythmias leading to syncope and sudden cardiac death. It…”
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An international compendium of mutations in the SCN5A -encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing by Kapplinger, Jamie D., BA, Tester, David J., BS, Alders, Marielle, PhD, Benito, Begoña, MD, Berthet, Myriam, BA, Brugada, Josep, MD, PhD, Brugada, Pedro, MD, PhD, Fressart, Véronique, MD, Guerchicoff, Alejandra, PhD, Harris-Kerr, Carole, PhD, Kamakura, Shiro, MD, PhD, Kyndt, Florence, PhD, Koopmann, Tamara T., PhD, Miyamoto, Yoshihiro, MD, Pfeiffer, Ryan, BS, Pollevick, Guido D., PhD, Probst, Vincent, MD, PhD, Zumhagen, Sven, MD, Vatta, Matteo, PhD, Towbin, Jeffrey A., MD, Shimizu, Wataru, MD, PhD, Schulze-Bahr, Eric, MD, Antzelevitch, Charles, PhD, Salisbury, Benjamin A., PhD, Guicheney, Pascale, PhD, Wilde, Arthur A.M., MD, PhD, Brugada, Ramon, MD, PhD, Schott, Jean-Jacques, PhD, Ackerman, Michael J., MD, PhD

“…Background Brugada syndrome (BrS) is a common heritable channelopathy. Mutations in the SCN5A -encoded sodium channel (BrS1) culminate in the most common…”
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