116 results on '"Perez-Serra, A."'
Search Results
2. Clinical impact of rare variants associated with inherited channelopathies: a 5-year update
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Sarquella-Brugada, Georgia, Fernandez-Falgueras, Anna, Cesar, Sergi, Arbelo, Elena, Coll, Mónica, Perez-Serra, Alexandra, Puigmulé, Marta, Iglesias, Anna, Alcalde, Mireia, Vallverdú-Prats, Marta, Fiol, Victoria, Ferrer-Costa, Carles, del Olmo, Bernat, Picó, Ferran, Lopez, Laura, García-Alvarez, Ana, Jordà, Paloma, Tiron de Llano, Coloma, Toro, Rocío, Grassi, Simone, Oliva, Antonio, Brugada, Josep, Brugada, Ramon, and Campuzano, Oscar
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- 2022
- Full Text
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3. LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation
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Sergi Cesar, Monica Coll, Victoria Fiol, Anna Fernandez-Falgueras, Jose Cruzalegui, Anna Iglesias, Isaac Moll, Alexandra Perez-Serra, Estefanía Martínez-Barrios, Carles Ferrer-Costa, Bernat del Olmo, Marta Puigmulè, Mireia Alcalde, Laura Lopez, Ferran Pico, Rubén Berrueco, Josep Brugada, Irene Zschaeck, Daniel Natera-de Benito, Laura Carrera-García, Jessica Exposito-Escudero, Carlos Ortez, Andrés Nascimento, Ramon Brugada, Georgia Sarquella-Brugada, and Oscar Campuzano
- Subjects
sudden cardiac death ,laminopathies ,muscular dystrophy ,genetics ,genetic diagnostic ,Genetics ,QH426-470 - Abstract
Background: Laminopathies are caused by rare alterations in LMNA, leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in each patient. We investigated variability in laminopathy phenotypes by performing a targeted genetic analysis of patients diagnosed with LMNA-related muscular dystrophy to identify rare variants in alternative genes, thereby explaining phenotypic differences.Methods: We analyzed 105 genes associated with muscular diseases by targeted sequencing in 26 pediatric patients of different countries, diagnosed with any LMNA-related muscular dystrophy. Family members were also clinically assessed and genetically analyzed.Results: All patients carried a pathogenic rare variant in LMNA. Clinical diagnoses included Emery-Dreifuss muscular dystrophy (EDMD, 13 patients), LMNA-related congenital muscular dystrophy (L-CMD, 11 patients), and limb-girdle muscular dystrophy 1B (LGMD1B, 2 patients). In 9 patients, 10 additional rare genetic variants were identified in 8 genes other than LMNA. Genotype-phenotype correlation showed additional deleterious rare variants in five of the nine patients (3 L-CMD and 2 EDMD) with severe phenotypes.Conclusion: Analysis f known genes related to muscular diseases in close correlation with personalized clinical assessments may help identify additional rare variants of LMNA potentially associated with early onset or most severe disease progression.
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- 2023
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4. Post-mortem toxicology analysis in a young sudden cardiac death cohort
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Coll, Mònica, Fernàndez-Falgueras, Anna, Tiron, Coloma, Iglesias, Anna, Buxó, Maria, Simón, Adrià, Nogué-Navarro, Laia, Moral, Sergio, Pérez-Serra, Alexandra, Puigmulé, Marta, del Olmo, Bernat, Campuzano, Oscar, Castellà, Josep, Picó, Ferran, Lopez, Laura, Neto, Nuria, Corona, Mònica, Alcalde, Mireia, and Brugada, Ramon
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- 2022
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5. Rare variants in genes encoding structural myocyte contribute to a thickened ventricular septum in sudden death population without ventricular alterations
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Alcalde, Mireia, Nogué-Navarro, Laia, Tiron, Coloma, Fernandez-Falgueras, Anna, Iglesias, Anna, Simon, Adria, Buxó, Maria, Pérez-Serra, Alexandra, Puigmulé, Marta, López, Laura, Picó, Ferran, del Olmo, Bernat, Corona, Monica, Campuzano, Oscar, Moral, Sergio, Castella, Josep, Coll, Mònica, and Brugada, Ramon
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- 2022
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6. Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?
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Mates, Jesus, Mademont-Soler, Irene, Fernandez-Falgueras, Anna, Sarquella-Brugada, Georgia, Cesar, Sergi, Arbelo, Elena, García-Álvarez, Ana, Jordà, Paloma, Toro, Rocío, Coll, Mónica, Fiol, Victoria, Iglesias, Anna, Perez-Serra, Alexandra, Olmo, Bernat del, Alcalde, Mireia, Puigmulé, Marta, Pico, Ferran, Lopez, Laura, Ferrer, Carles, Tiron, Coloma, Grassi, Simone, Oliva, Antonio, Brugada, Josep, Brugada, Ramon, and Campuzano, Oscar
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- 2020
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7. Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples
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Monica Coll, Anna Fernandez-Falgueras, Anna Iglesias, Bernat del Olmo, Laia Nogue-Navarro, Adria Simon, Alexandra Perez Serra, Marta Puigmule, Laura Lopez, Ferran Pico, Monica Corona, Marta Vallverdu-Prats, Coloma Tiron, Oscar Campuzano, Josep Castella, Ramon Brugada, and Mireia Alcalde
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sudden death ,intronic variants ,splicing ,genetics ,Biology (General) ,QH301-705.5 ,Chemistry ,QD1-999 - Abstract
Molecular screening for pathogenic mutations in sudden cardiac death (SCD)-related genes is common practice for SCD cases. However, test results may lead to uncertainty because of the identification of variants of unknown significance (VUS) occurring in up to 70% of total identified variants due to a lack of experimental studies. Genetic variants affecting potential splice site variants are among the most difficult to interpret. The aim of this study was to examine rare intronic variants identified in the exonic flanking sequence to meet two main objectives: first, to validate that canonical intronic variants produce aberrant splicing; second, to determine whether rare intronic variants predicted as VUS may affect the splicing product. To achieve these objectives, 28 heart samples of cases of SCD carrying rare intronic variants were studied. Samples were analyzed using 85 SCD genes in custom panel sequencing. Our results showed that rare intronic variants affecting the most canonical splice sites displayed in 100% of cases that they would affect the splicing product, possibly causing aberrant isoforms. However, 25% of these cases (1/4) showed normal splicing, contradicting the in silico results. On the contrary, in silico results predicted an effect in 0% of cases, and experimental results showed >20% (3/14) unpredicted aberrant splicing. Thus, deep intron variants are likely predicted to not have an effect, which, based on our results, might be an underestimation of their effect and, therefore, of their pathogenicity classification and family members’ follow-up.
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- 2022
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8. Molecular autopsy in a cohort of infants died suddenly at rest
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Campuzano, Oscar, Beltramo, Pilar, Fernandez, Anna, Iglesias, Anna, García, Laura, Allegue, Catarina, Sarquella-Brugada, Georgia, Coll, Monica, Perez-Serra, Alexandra, Mademont-Soler, Irene, Mates, Jesus, del Olmo, Bernat, Rodríguez, Ángeles, Maciel, Natalia, Puigmulé, Marta, Pico, Ferran, Cesar, Sergi, Brugada, Josep, Cuesta, Alejandro, Gutierrez, Carmen, and Brugada, Ramon
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- 2018
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9. Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort
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Estefanía Martinez-Barrios, Georgia Sarquella-Brugada, Alexandra Perez-Serra, Anna Fernandez-Falgueras, Sergi Cesar, Mireia Alcalde, Mónica Coll, Marta Puigmulé, Anna Iglesias, Carles Ferrer-Costa, Bernat del Olmo, Ferran Picó, Laura Lopez, Victoria Fiol, José Cruzalegui, Clara Hernandez, Elena Arbelo, Nuria Díez-Escuté, Patricia Cerralbo, Simone Grassi, Antonio Oliva, Rocío Toro, Josep Brugada, Ramon Brugada, and Oscar Campuzano
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Pathology and Forensic Medicine - Abstract
Sudden death cases in the young population remain without a conclusive cause of decease in almost 40% of cases. In these situations, cardiac arrhythmia of genetic origin is suspected as the most plausible cause of death. Molecular autopsy may reveal a genetic defect in up to 20% of families. Most than 80% of rare variants remain classified with an ambiguous role, impeding a useful clinical translation. Our aim was to update rare variants originally classified as of unknown significance to clarify their role. Our cohort included fifty-one post-mortem samples of young cases who died suddenly and without a definite cause of death. Five years ago, molecular autopsy identified at least one rare genetic alteration classified then as ambiguous following the American College of Medical Genetics and Genomics’ recommendations. We have reclassified the same rare variants including novel data. About 10% of ambiguous variants change to benign/likely benign mainly because of improved population frequencies. Excluding cases who died before one year of age, almost 21% of rare ambiguous variants change to benign/likely benign. This fact makes it important to discard these rare variants as a cause of sudden unexplained death, avoiding anxiety in relatives’ carriers. Twenty-five percent of the remaining variants show a tendency to suspicious deleterious role, highlighting clinical follow-up of carriers. Periodical reclassification of rare variants originally classified as ambiguous is crucial, at least updating frequencies every 5 years. This action aids to increase accuracy to enable and conclude a cause of death as well as translation into the clinic.
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- 2023
10. Genetic analysis in post-mortem samples with micro-ischemic alterations
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Campuzano, Oscar, Sanchez-Molero, Olallo, Mademont-Soler, Irene, Coll, Monica, Allegue, Catarina, Ferrer-Costa, Carles, Mates, Jesus, Perez-Serra, Alexandra, del Olmo, Bernat, Iglesias, Anna, Sarquella-Brugada, Georgia, Brugada, Josep, Borondo, Juan Carlos, Castella, Josep, Medallo, Jordi, and Brugada, Ramon
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- 2017
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11. Familial dilated cardiomyopathy: A multidisciplinary entity, from basic screening to novel circulating biomarkers
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de Gonzalo-Calvo, D., Quezada, M., Campuzano, O., Perez-Serra, A., Broncano, J., Ayala, R., Ramos, M., Llorente-Cortes, V., Blasco-Turrión, S., Morales, F.J., Gonzalez, P., Brugada, R., Mangas, A., and Toro, R.
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- 2017
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12. A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia
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Bosch, Cristina, Campuzano, Oscar, Sarquella-Brugada, Georgia, Cesar, Sergi, Perez-Serra, Alexandra, Coll, Monica, Mademont, Irene, Mates, Jesus, del Olmo, Bernat, Iglesias, Anna, Brugada, Josep, Petersen, Volker, and Brugada, Ramon
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- 2017
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13. Transcriptional regulation of the sodium channel gene (SCN5A) by GATA4 in human heart
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Tarradas, Anna, Pinsach-Abuin, Mel·lina, Mackintosh, Carlos, Llorà-Batlle, Oriol, Pérez-Serra, Alexandra, Batlle, Montserrat, Pérez-Villa, Félix, Zimmer, Thomas, Garcia-Bassets, Ivan, Brugada, Ramon, Beltran-Alvarez, Pedro, and Pagans, Sara
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- 2017
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14. Genetic basis of dilated cardiomyopathy
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Pérez-Serra, Alexandra, Toro, Rocio, Sarquella-Brugada, Georgia, de Gonzalo-Calvo, David, Cesar, Sergi, Carro, Esther, Llorente-Cortes, Vicenta, Iglesias, Anna, Brugada, Josep, Brugada, Ramon, and Campuzano, Oscar
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- 2016
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15. LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation
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Cesar, Sergi, primary, Coll, Monica, additional, Fiol, Victoria, additional, Fernandez-Falgueras, Anna, additional, Cruzalegui, Jose, additional, Iglesias, Anna, additional, Moll, Isaac, additional, Perez-Serra, Alexandra, additional, Martínez-Barrios, Estefanía, additional, Ferrer-Costa, Carles, additional, Olmo, Bernat del, additional, Puigmulè, Marta, additional, Alcalde, Mireia, additional, Lopez, Laura, additional, Pico, Ferran, additional, Berrueco, Rubén, additional, Brugada, Josep, additional, Zschaeck, Irene, additional, Natera-de Benito, Daniel, additional, Carrera-García, Laura, additional, Exposito-Escudero, Jessica, additional, Ortez, Carlos, additional, Nascimento, Andrés, additional, Brugada, Ramon, additional, Sarquella-Brugada, Georgia, additional, and Campuzano, Oscar, additional
- Published
- 2023
- Full Text
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16. Genetic basis of atrial fibrillation
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Oscar Campuzano, Alexandra Perez-Serra, Anna Iglesias, and Ramon Brugada
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Arrhythmia ,Atrial fibrillation ,Genetics ,Heart failure ,Sudden cardiac death ,Medicine (General) ,R5-920 ,QH426-470 - Abstract
Atrial fibrillation is the most common sustained arrhythmia and remains as one of main challenges in current clinical practice. The disease may be induced secondary to other diseases such as hypertension, valvular heart disease, and heart failure, conferring an increased risk of stroke and sudden death. Epidemiological studies have provided evidence that genetic factors play an important role and up to 30% of clinically diagnosed patients may have a family history of atrial fibrillation. To date, several rare variants have been identified in a wide range of genes associated with ionic channels, calcium handling protein, fibrosis, conduction and inflammation. Important advances in clinical, genetic and molecular basis have been performed over the last decade, improving diagnosis and treatment. However, the genetics of atrial fibrillation is complex and pathophysiological data remains still unraveling. A better understanding of the genetic basis will induce accurate risk stratification and personalized clinical treatment. In this review, we have focused on current genetics basis of atrial fibrillation.
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- 2016
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17. Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies
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Oscar Campuzano, Anna Fernandez-Falgueras, Georgia Sarquella-Brugada, Sergi Cesar, Elena Arbelo, Ana García-Álvarez, Paloma Jordà, Monica Coll, Victoria Fiol, Anna Iglesias, Alexandra Perez-Serra, Jesus Mates, Bernat del Olmo, Carles Ferrer, Mireia Alcalde, Marta Puigmulé, Irene Mademont-Soler, Ferran Pico, Laura Lopez, Coloma Tiron, Josep Brugada, and Ramon Brugada
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sudden cardiac death ,arrhythmias ,cardiomyopathies ,genetics ,genetic counseling ,Genetics ,QH426-470 - Abstract
Cardiomyopathies are a heterogeneous group of inherited cardiac diseases characterized by progressive myocardium abnormalities associated with mechanical and/or electrical dysfunction. Massive genetic sequencing technologies allow a comprehensive genetic analysis to unravel the cause of disease. However, most identified genetic variants remain of unknown clinical significance due to incomplete penetrance and variable expressivity. Therefore, genetic interpretation of variants and translation into clinical practice remain a current challenge. We performed retrospective comprehensive clinical assessment and genetic analysis in six families, four diagnosed with arrhythmogenic cardiomyopathy, and two diagnosed with hypertrophic cardiomyopathy (HCM). Genetic testing identified three rare variants (two non-sense and one small indel inducing a frameshift), each present in two families. Although each variant is currently classified as pathogenic and the cause of the diagnosed cardiomyopathy, the onset and/or clinical course differed in each patient. New genetic technology allows comprehensive yet cost-effective genetic analysis, although genetic interpretation, and clinical translation of identified variants should be carefully done in each family in a personalized manner.
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- 2019
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18. Proteomic identification of putative biomarkers for early detection of sudden cardiac death in a family with a LMNA gene mutation causing dilated cardiomyopathy
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Izquierdo, Irene, Rosa, Isaac, Bravo, Susana Belén, Guitián, Esteban, Pérez-Serra, Alexandra, Campuzano, Oscar, Brugada, Ramon, Mangas, Alipio, García, Ángel, and Toro, Rocio
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- 2016
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19. A Novel Mutation in Lamin A/C Causing Familial Dilated Cardiomyopathy Associated With Sudden Cardiac Death
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Pérez-Serra, Alexandra, Toro, Rocío, Campuzano, Oscar, Sarquella-Brugada, Georgia, Berne, Paola, Iglesias, Anna, Mangas, Alipio, Brugada, Josep, and Brugada, Ramon
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- 2015
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20. Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis
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Campuzano, Oscar, Sanchez-Molero, Olallo, Fernandez, Anna, Mademont-Soler, Irene, Coll, Monica, Perez-Serra, Alexandra, Mates, Jesus, del Olmo, Bernat, Pico, Ferran, Nogue-Navarro, Laia, Sarquella-Brugada, Georgia, Iglesias, Anna, Cesar, Sergi, Carro, Esther, Borondo, Juan Carlos, Brugada, Josep, Castellà, Josep, Medallo, Jordi, and Brugada, Ramon
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- 2017
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21. Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples
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Coll, Monica, primary, Fernandez-Falgueras, Anna, additional, Iglesias, Anna, additional, del Olmo, Bernat, additional, Nogue-Navarro, Laia, additional, Simon, Adria, additional, Perez Serra, Alexandra, additional, Puigmule, Marta, additional, Lopez, Laura, additional, Pico, Ferran, additional, Corona, Monica, additional, Vallverdu-Prats, Marta, additional, Tiron, Coloma, additional, Campuzano, Oscar, additional, Castella, Josep, additional, Brugada, Ramon, additional, and Alcalde, Mireia, additional
- Published
- 2022
- Full Text
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22. Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review
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Antonio Oliva, Simone Grassi, Vilma Pinchi, Francesca Cazzato, Mónica Coll, Mireia Alcalde, Marta Vallverdú-Prats, Alexandra Perez-Serra, Estefanía Martínez-Barrios, Sergi Cesar, Anna Iglesias, José Cruzalegui, Clara Hernández, Victoria Fiol, Elena Arbelo, Nuria Díez-Escuté, Vincenzo Arena, Josep Brugada, Georgia Sarquella-Brugada, Ramon Brugada, and Oscar Campuzano
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Sudden death ,Mort sobtada ,General Medicine ,Patologia forense ,Brugada, Síndrome de -- Diagnòstic ,Cor -- Histopatologia ,Brugada syndrome -- Diagnosi ,Forensic pathology ,Heart -- Histopathology - Abstract
Brugada syndrome (BrS) is classified as an inherited cardiac channelopathy attributed to dysfunctional ion channels and/or associated proteins in cardiomyocytes rather than to structural heart alterations. However, hearts of some BrS patients exhibit slight histologic abnormalities, suggesting that BrS could be a phenotypic variant of arrhythmogenic cardiomyopathy. We performed a systematic review of the literature following Preferred Reporting Items for Systematic Reviews and Meta-Analyses Statement (PRISMA) criteria. Our comprehensive analysis of structural findings did not reveal enough definitive evidence for reclassification of BrS as a cardiomyopathy. The collection and comprehensive analysis of new cases with a definitive BrS diagnosis are needed to clarify whether some of these structural features may have key roles in the pathophysiological pathways associated with malignant arrhythmogenic episodes.
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- 2022
23. Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review
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Oliva, Antonio, primary, Grassi, Simone, additional, Pinchi, Vilma, additional, Cazzato, Francesca, additional, Coll, Mónica, additional, Alcalde, Mireia, additional, Vallverdú-Prats, Marta, additional, Perez-Serra, Alexandra, additional, Martínez-Barrios, Estefanía, additional, Cesar, Sergi, additional, Iglesias, Anna, additional, Cruzalegui, José, additional, Hernández, Clara, additional, Fiol, Victoria, additional, Arbelo, Elena, additional, Díez-Escuté, Nuria, additional, Arena, Vincenzo, additional, Brugada, Josep, additional, Sarquella-Brugada, Georgia, additional, Brugada, Ramon, additional, and Campuzano, Oscar, additional
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- 2022
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24. Relationship between minimal hepatic encephalopathy and extrapyramidal signs in cirrhotic patients
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Jover, R., Compañy, L., Gutiérrez, A., Zapater, P., Pérez-Serra, J., Girona, E., Aparicio, J. R., Pérez-Mateo, M., Jones, E. Anthony, editor, Meijer, Alfred J., editor, and Chamuleau, Robert A. F. M., editor
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- 2003
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25. Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes
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Medicina, Martínez-Barrios, Estefanía, Sarquella-Brugada, Georgia, Perez-Serra, Alexandra, Fernandez-Falgueras, Anna, Cesar, Sergi, Coll, Mónica, Puigmulé, Marta, Iglesias, Anna, Alcalde, Mireia, Vallverdú-Prats, Marta, Ferrer-Costa, Carles, del Olmo, Bernat, Picó, Ferran, Lopez, Laura, Fiol, Victoria, Cruzalegui, José, Hernández, Clara, Arbelo, Elena, Grassi, Simone, Oliva, Antonio, Toro Cebada, Rocío, Brugada, Josep, Brugada, Ramón, Campuzano, Oscar, Medicina, Martínez-Barrios, Estefanía, Sarquella-Brugada, Georgia, Perez-Serra, Alexandra, Fernandez-Falgueras, Anna, Cesar, Sergi, Coll, Mónica, Puigmulé, Marta, Iglesias, Anna, Alcalde, Mireia, Vallverdú-Prats, Marta, Ferrer-Costa, Carles, del Olmo, Bernat, Picó, Ferran, Lopez, Laura, Fiol, Victoria, Cruzalegui, José, Hernández, Clara, Arbelo, Elena, Grassi, Simone, Oliva, Antonio, Toro Cebada, Rocío, Brugada, Josep, Brugada, Ramón, and Campuzano, Oscar
- Abstract
The titin gene (TTN) is associated with several diseases, including inherited arrhythmias. Most of these diagnoses are attributed to rare TTN variants encoding truncated forms, but missense variants represent a diagnostic challenge for clinical genetics. The proper interpretation of genetic data is critical for translation into the clinical setting. Notably, many TTN variants were classified before 2015, when the American College of Medical Genetics and Genomics (ACMG) published recommendations to accurately classify genetic variants. Our aim was to perform an exhaustive reanalysis of rare missense TTN variants that were classified before 2015, and that have ambiguous roles in inherited arrhythmogenic syndromes. Rare missense TTN variants classified before 2015 were updated following the ACMG recommendations and according to all the currently available data. Our cohort included 193 individuals definitively diagnosed with an inherited arrhythmogenic syndrome before 2015. Our analysis resulted in the reclassification of 36.8% of the missense variants from unknown to benign/likely benign. Of all the remaining variants, currently classified as of unknown significance, 38.3% showed a potential, but not confirmed, deleterious role. Most of these rare missense TTN variants with a suspected deleterious role were identified in patients diagnosed with hypertrophic cardiomyopathy. More than 35% of the rare missense TTN variants previously classified as ambiguous were reclassified as not deleterious, mainly because of improved population frequencies. Despite being inconclusive, almost 40% of the variants showed a potentially deleterious role in inherited arrhythmogenic syndromes. Our results highlight the importance of the periodical reclassification of rare missense TTN variants to improve genetic diagnoses and help increase the accuracy of personalized medicine.
- Published
- 2022
26. Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes
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Martinez-barrios, E., Sarquella-brugada, G., Perez-serra, A., Fernandez-falgueras, A., Cesar, S., Coll, M., Puigmule, M., Iglesias, A., Alcalde, M., Vallverdu-prats, M., Ferrer-costa, C., Del Olmo, B., Pico, F., Lopez, L., Fiol, V., Cruzalegui, J., Hernandez, C., Arbelo, E., Grassi, S., Oliva, Antonio, Toro, R., Brugada, J., Brugada, R., Campuzano, O., Oliva A. (ORCID:0000-0001-7120-616X), Martinez-barrios, E., Sarquella-brugada, G., Perez-serra, A., Fernandez-falgueras, A., Cesar, S., Coll, M., Puigmule, M., Iglesias, A., Alcalde, M., Vallverdu-prats, M., Ferrer-costa, C., Del Olmo, B., Pico, F., Lopez, L., Fiol, V., Cruzalegui, J., Hernandez, C., Arbelo, E., Grassi, S., Oliva, Antonio, Toro, R., Brugada, J., Brugada, R., Campuzano, O., and Oliva A. (ORCID:0000-0001-7120-616X)
- Abstract
The titin gene (TTN) is associated with several diseases, including inherited arrhythmias. Most of these diagnoses are attributed to rare TTN variants encoding truncated forms, but missense variants represent a diagnostic challenge for clinical genetics. The proper interpretation of genetic data is critical for translation into the clinical setting. Notably, many TTN variants were classified before 2015, when the American College of Medical Genetics and Genomics (ACMG) published recommendations to accurately classify genetic variants. Our aim was to perform an exhaustive reanalysis of rare missense TTN variants that were classified before 2015, and that have ambiguous roles in inherited arrhythmogenic syndromes. Rare missense TTN variants classified before 2015 were updated following the ACMG recommendations and according to all the currently available data. Our cohort included 193 individuals definitively diagnosed with an inherited arrhythmogenic syndrome before 2015. Our analysis resulted in the reclassification of 36.8% of the missense variants from unknown to benign/likely benign. Of all the remaining variants, currently classified as of unknown significance, 38.3% showed a potential, but not confirmed, deleterious role. Most of these rare missense TTN variants with a suspected deleterious role were identified in patients diagnosed with hypertrophic cardiomyopathy. More than 35% of the rare missense TTN variants previously classified as ambiguous were reclassified as not deleterious, mainly because of improved population frequencies. Despite being inconclusive, almost 40% of the variants showed a potentially deleterious role in inherited arrhythmogenic syndromes. Our results highlight the importance of the periodical reclassification of rare missense TTN variants to improve genetic diagnoses and help increase the accuracy of personalized medicine.
- Published
- 2022
27. Clinical impact of rare variants associated with inherited channelopathies: a 5-year update
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Sarquella-Brugada, Georgia, primary, Fernandez-Falgueras, Anna, additional, Cesar, Sergi, additional, Arbelo, Elena, additional, Coll, Mónica, additional, Perez-Serra, Alexandra, additional, Puigmulé, Marta, additional, Iglesias, Anna, additional, Alcalde, Mireia, additional, Vallverdú-Prats, Marta, additional, Fiol, Victoria, additional, Ferrer-Costa, Carles, additional, del Olmo, Bernat, additional, Picó, Ferran, additional, Lopez, Laura, additional, García-Alvarez, Ana, additional, Jordà, Paloma, additional, Tiron de Llano, Coloma, additional, Toro, Rocío, additional, Grassi, Simone, additional, Oliva, Antonio, additional, Brugada, Josep, additional, Brugada, Ramon, additional, and Campuzano, Oscar, additional
- Published
- 2021
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28. Generation of the induced pluripotent stem cell line ESi108-A from a familial atrial fibrillation patient
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Martínez-Moreno, Rebecca, Pérez-Serra, Alexandra, Selga, Elisabet, Carreras, David, Aran, Begoña, Kuebler, Bernd, Scornik, Fabiana S., Pérez, Guillermo J., and Brugada, Ramon
- Published
- 2023
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29. Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach
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Jordà, Paloma, Toro, Rocío, Diez, Carles, Salazar-Mendiguchía, Joel, Fernandez-Falgueras, Anna, Perez-Serra, Alexandra, Coll, Monica, Puigmulé, Marta, Arbelo, Elena, García-Álvarez, Ana, Sarquella-Brugada, Georgia, Cesar, Sergi, Tiron, Coloma, Iglesias, Anna, Brugada, Josep, Brugada, Ramon, Campuzano, Oscar, [Jordà,P, Arbelo,E, García-Álvarez,A, Brugada,J] Cardiology Department, Hospital Clinic, University of Barcelona-IDIBAPS, Barcelona, Spain. [Toro,R] Medicine Department, School of Medicine, University of Cadiz, Cadiz, Spain. [Toro,R] Biomedical Research and Innovation Institute of Cadiz (INiBICA), Cadiz, Spain. [Diez,C, Salazar-Mendiguchía,J] Cardiovascular Diseases Research Group Bellvitge Biomedical Research Institute (IDIBELL) Hospitalet de Llobregat, Barcelona, Spain. [Diez,C] Advanced Heart Failure and Heart Transplant Unit Department of Cardiology Bellvitge University Hospital Hospitalet de Llobregat, Barcelona, Spain. [Fernandez-Falgueras,A, Perez-Serra,A, Coll,M, Puigmulé,M, Iglesias,A, Brugada,R, Campuzano,O] Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain. [Perez-Serra,A, Brugada,J, Campuzano,O] Centro de Investigación Biomédica en Red Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain. [Sarquella-Brugada,G, Cesar,S, Campuzano,O] Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain. [Sarquella-Brugada,G, Campuzano,O] Medical Science Department, School of Medicine, University of Girona, Girona, Spain. [Tiron,C, Brugada,R] Cardiology Service, Hospital Josep Trueta, University of Girona, Girona, Spain., and This work was supported by Obra Social 'La Caixa Foundation' (LCF/PR/GN16/50290001 and LCF/PR/GN19/50320002), Fondo Investigacion Sanitaria (FIS PI16/01203 and FIS, PI17/01690) from Instituto Salud Carlos III (ISCIII), and 'Fundacio Privada Daniel Bravo Andreu'. CIBERCV is an initiative of the ISCIII, Spanish Ministry of Economy and Competitiveness.
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RBM20 ,Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings] ,Anatomy::Musculoskeletal System::Muscles [Medical Subject Headings] ,Dilated cardiomyopathy ,Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Nucleoproteins::RNA-Binding Proteins [Medical Subject Headings] ,Supresión genética ,Genética ,Arritmias cardíacas ,Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings] ,Sudden cardiac death ,Cardiomiopatía dilatada ,Diseases::Cardiovascular Diseases::Heart Diseases::Arrhythmias, Cardiac [Medical Subject Headings] ,Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression Regulation::RNA Processing, Post-Transcriptional::RNA Splicing [Medical Subject Headings] ,Muerte súbita cardíaca ,Diseases::Cardiovascular Diseases::Heart Diseases::Cardiomyopathies [Medical Subject Headings] ,Genetics ,Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings] ,Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Biochemical Processes::RNA Processing, Post-Transcriptional::RNA Splicing::Alternative Splicing [Medical Subject Headings] ,Arrhythmia - Abstract
The RBM20 gene encodes the muscle-specific splicing factor RNA-binding motif 20, a regulator of heart-specific alternative splicing. Nearly 40 potentially deleterious variants in RBM20 have been reported in the last ten years, being found to be associated with highly arrhythmogenic events in familial dilated cardiomyopathy. Frequently, malignant arrhythmias can be a primary manifestation of disease. The early recognition of arrhythmic genotypes is crucial in avoiding lethal episodes, as it may have an impact on the adoption of personalized preventive measures. Our study performs a comprehensive update of data concerning rare variants in RBM20 that are associated with malignant arrhythmogenic phenotypes with a focus on personalized medicine. Yes
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- 2021
30. Rare variants associated with arrhythmogenic cardiomyopathy: Reclassification five years later
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Vallverdu-Prats, M., Alcalde, M., Sarquella-Brugada, G., Cesar, S., Arbelo, E., Fernandez-Falgueras, A., Coll, M., Perez-Serra, A., Puigmule, M., Iglesias, A., Fiol, V., Ferrer-Costa, C., Olmo, B., Pico, F., Lopez, L., Jorda, P., Garcia-alvarez, A., Llano, C. T., Toro, R., Grassi, S., Oliva, Antonio, Brugada, J., Brugada, R., Campuzano, O., Oliva A. (ORCID:0000-0001-7120-616X), Vallverdu-Prats, M., Alcalde, M., Sarquella-Brugada, G., Cesar, S., Arbelo, E., Fernandez-Falgueras, A., Coll, M., Perez-Serra, A., Puigmule, M., Iglesias, A., Fiol, V., Ferrer-Costa, C., Olmo, B., Pico, F., Lopez, L., Jorda, P., Garcia-alvarez, A., Llano, C. T., Toro, R., Grassi, S., Oliva, Antonio, Brugada, J., Brugada, R., Campuzano, O., and Oliva A. (ORCID:0000-0001-7120-616X)
- Abstract
Genetic interpretation of rare variants associated with arrhythmogenic cardiomyopathy (ACM) is essential due to their diagnostic implications. New data may relabel previous variant classifications, but how often reanalysis is necessary remains undefined. Five years ago, 39 rare ACM-related variants were identified in patients with features of cardiomyopathy. These variants were classified following the American College of Medical Genetics and Genomics’ guidelines. In the present study, we reevaluated these rare variants including novel available data. All cases carried one rare variant classified as being of ambiguous significance (82.05%) or likely pathogenic (17.95%) in 2016. In our comprehensive reanalysis, the classification of 30.77% of these variants changed, mainly due to updated global frequencies. As in 2016, nowadays most variants were classified as having an uncertain role (64.1%), but the proportion of variants with an uncertain role was significantly decreased (17.95%). The percentage of rare variants classified as potentially del-eterious increased from 17.95% to 23.07%. Moreover, 83.33% of reclassified variants gained cer-tainty. We propose that periodic genetic reanalysis of all rare variants associated with arrhythmo-genic cardiomyopathy should be undertaken at least once every five years. Defining the roles of rare variants may help clinicians obtain a definite diagnosis.
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- 2021
31. A Better Look at Learning: How Does the Brain Express the Mind?
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Carme Timoneda-Gallart, Alexandra Perez-Serra, and Frederic Perez-Alvarez
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Weakness ,Cognition disorders ,Trastorns de l'aprenentatge ,Dyslexia ,Cognition ,Dysfunctional family ,General Medicine ,medicine.disease ,behavioral disciplines and activities ,Trastorns de la cognició ,Developmental psychology ,Intervention (counseling) ,Dyscalculia ,Learning disability ,medicine ,medicine.symptom ,Psychology ,Learning disabilities - Abstract
Learning problems in the light of PASS assessment and intervention were studied. Data for 248 subjects with specific learning impairment (SLI), dyslexia, dyscalculia, and non-defined learning difficulty were studied. Hierarchical cluster analysis of PASS scores at baseline was performed. PASS re-assessment was carried out at 6 and 12 months after 6-month period of intervention. Four statistically different cluster groups were identified. All groups, except one, showed cognitive weakness. Planning weakness, associated with other weakness, appears involved in all groups except two where isolated planning and successive weaknesses were identified, respectively. SLI, dyslexia, and dyscalculia are not homogenous entities. A kind of dyslexia is clearly linked to isolated successive weakness. SLI-expressive (SLIe) and a minority of both dyslexia and dyscalculia appear linked to successive weakness although associated with planning and additionally with attention in the case of SLIe. SLI-expressive-receptive (SLIe-r) and Dyscalculia appear linked to simultaneous weakness, although associated with planning weakness. Other kind of SLIe-r appears linked to isolated planning weakness. Other types of SLIe-r and Dyscalculia appear liked to combined planning + successive + attention weakness. Isolated dysfunctional attention does not appear in any case. After 6 months of intervention, planning improves statistically in all cases. Attention improves in few cases. Successive and simultaneous do not improve. The best result is in dyslexia, SLIe and a minority of Dyscalculia. The worst result is in those without cognitive deficiency. The effect of intervention at 6 months remains with minor changes at 12 months after 6 months without intervention
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- 2020
32. Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?
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Mates, J., Mademont-Soler, I., Fernandez-Falgueras, A., Sarquella-Brugada, G., Cesar, S., Arbelo, E., Garcia-Alvarez, A., Jorda, P., Toro, R., Coll, M., Fiol, V., Iglesias, A., Perez-Serra, A., Olmo, B. D., Alcalde, M., Puigmule, M., Pico, F., Lopez, L., Ferrer, C., Tiron, C., Grassi, S., Oliva, Antonio, Brugada, J., Brugada, R., Campuzano, O., Oliva A. (ORCID:0000-0001-7120-616X), Mates, J., Mademont-Soler, I., Fernandez-Falgueras, A., Sarquella-Brugada, G., Cesar, S., Arbelo, E., Garcia-Alvarez, A., Jorda, P., Toro, R., Coll, M., Fiol, V., Iglesias, A., Perez-Serra, A., Olmo, B. D., Alcalde, M., Puigmule, M., Pico, F., Lopez, L., Ferrer, C., Tiron, C., Grassi, S., Oliva, Antonio, Brugada, J., Brugada, R., Campuzano, O., and Oliva A. (ORCID:0000-0001-7120-616X)
- Abstract
Over the last ten years, analysis of copy number variants has increasingly been applied to the study of arrhythmogenic pathologies associated with sudden death, mainly due to significant advances in the field of massive genetic sequencing. Nevertheless, few published reports have focused on the prevalence of copy number variants associated with sudden cardiac death. As a result, the frequency of these genetic alterations in arrhythmogenic diseases as well as their genetic interpretation and clinical translation has not been established. This review summarizes the current available data concerning copy number variants in sudden cardiac death-related diseases.
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- 2020
33. Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach
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Jordà, Paloma, primary, Toro, Rocío, additional, Diez, Carles, additional, Salazar-Mendiguchía, Joel, additional, Fernandez-Falgueras, Anna, additional, Perez-Serra, Alexandra, additional, Coll, Monica, additional, Puigmulé, Marta, additional, Arbelo, Elena, additional, García-Álvarez, Ana, additional, Sarquella-Brugada, Georgia, additional, Cesar, Sergi, additional, Tiron, Coloma, additional, Iglesias, Anna, additional, Brugada, Josep, additional, Brugada, Ramon, additional, and Campuzano, Oscar, additional
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- 2021
- Full Text
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34. Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants
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Campuzano O, Fernandez-Falgueras A, Lemus X, Sarquella-Brugada G, César, S., Coll M, Mates J, Arbelo E, Jordà P, Perez-Serra A, Del Olmo B, Ferrer-Costa C, Iglesias A, Fiol JV, Puigmulé M, Lopez L, Pico F, Brugada-Terradellas J, and Brugada R
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short QT syndrome ,pathogenicity ,genetics ,sudden cardiac death - Abstract
Short QT syndrome, one of the most lethal entities associated with sudden cardiac death, is a rare genetic disease characterized by short QT intervals detected by electrocardiogram. Several genetic variants are causally linked to the disease, but there has yet to be a comprehensive analysis of variants among patients with short QT syndrome. To fill this gap, we performed an exhaustive study of variants currently catalogued as deleterious in short QT syndrome according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Analysis of the 32 variants described in the literature determined that only nine (28.12%) have a conclusive pathogenic role. All definitively pathogenic variants are located in KCNQ1, KCNH2, or KCNJ2; three genes encoding potassium channels. Other variants located in genes encoding calcium or sodium channels are associated with electrical alterations concomitant with shortened QT intervals but do not guarantee a diagnosis of short QT syndrome. We recommend caution regarding previously reported variants classified as pathogenic. An exhaustive re-analysis is necessary to clarify the role of each variant before routinely translating genetic findings to the clinical setting.
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- 2019
35. Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain: Abstracts of Symposia and free communications
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Harms, L., Bock, A., JÄnisch, W., Valdueza, J., Weber, J., Link, I., De Keyser, J., Goossens, A., Wilczak, N., Vedeler, C., Bjorge, L., Uvestad, E., Conti, G., Williams, K., Ginsberg, L., Rafique, S., Rapoport, S. I., Gershfeld, N. L., De La Meilleure, G., Crevits, L., Faiss, J. H., Heye, N., Blanke, J., Sackmann, A., Kastrup, O., Doornbos, R., van der Worp, H. B., Kappelle, L. J., Bar, P. R., Davie, C. A., Barker, G. J., Brenton, D., Miller, D. H., Thompson, A. J., Block, F., Schwarz, M., Delodovici, L., Baruzzi, F., Bonaldi, G., Dario, A., Marra, A., Mercuri, A., Dworzak, F., Cavallari, P., Confalonieri, P., Zuffi, M., Antozzi, C., Cornelio, F., Baldissera, F., Chassande, B., Ameri, A., Eymard, B., Poisson, M., Vérier, A., Brunet, P., Congia, S., Murgia, P. L., Cannas, A., Borghero, G., Uselli, S., Mellino, G., Ferrai, R., Lampis, R., Massa, R., Muzzetto, B., Giannini, F., Rossi, S., Cioni, R., d'Aniello, C., Guarneri, A., Battistini, N., Ceriani, F., Del Santo, A., Poloni, M., Campo, J. F., Iglesias, F., Guitera, M. V., Farinas, C., Pascual, J., Leno, C., Berciano, J., Thorpe, I. W., Kendall, B. E., McDonald, W. I., Moulignier, A., Dromer, F., Baudrimont, M., Dupont, B., Gozlan, J., El Amrani, M., Petit, J. C., Roullet, E., Sterzi, R., Causaran, R., Protti, A., Riva, M., Erminio, F., Arena, O., Villa, F., Maccagnano, E., Miletta, M., Spinelli, F., Ben-Hur, T., Weidenfeldl, J., Rao, N. S., Chari, C. C., Laforet, P., Matheron, S., Adams, D., Chemouilli, Ph., Desi, M., Said, G., Davous, P., Lionnet, F., Pulik, M., Genet, P., Rozenberg, F., Cartier, L. M., Castillo, J. L., Cea, J. G., Villagra, R., de Saint Martin, L., Mahieux, F., Manifacier, M. J., Mattos, K., Queiros, C., Publio, L., Vinhas, V., PeÇanha-Martins, A. C., Melo, A., Liska, U., Zifko, U., Budka, H., Drlicek, M., Grisold, W., Kaufmann, R., Kaiser, R., Czygan, M., Gomes, I., Jones, N., Cunha, S., EmbiruÇu, E. Katiane, Vieira, V., Araujo, I., Alexandra, M., Ferreira, A., Goes, J., Chemouilli, P., Israel-Biet, Masson, H., Lacroix, C., Gasnault, J., Hildebrandt-Müller, B., Oschmann, P., Krack, P., Willems, W. R., Dorndorf, W., Freitas, V., Bittencourt, A., Fernandes, D., Nascimento, M. H., Severo, M., Moraes, D., Muller, M., Hasert, K., Merkelbach, S., Schimrigk, K., van Oosten, B. W., Lai, M., Polman, C. H., Bertelsmann, F. W., Hodgkinson, S., Cabre, P. H., Volpe, L., Smadja, D., Vernant, J. P., Villaroya, H., Violleau, K., Younes-Chennoufi, A. Ben, Baumann, N., Villanueva-Hemandez, P., Ballabriga, J., Basart, E., Arbizu, T. X., Perez-Serra, J., Vinuels, F., Giron, J. M., Castilla, J. M., Redondo, L., Izquierdo, G., Lauer, K., Henneberg, A., Bittmann, N., Link, D., Wollinsky, K. H., Mobner, R., Fassbender, K., Kuhnen, J., Schwartz, A., Hennerici, M., Miller, A., Lider, O., Abramsky, O., Weiner, H. L., Offner, H., Vanderbark, A. A., Paoino, E., Fainardi, E., Addonizio, M. C., Ruppi, P., Tola, M. R., Granieri, E., Carreras, M., Sazdovitch, V., Joutel, A., Verdier-taillefer, M. H., Heinzlef, O., Radder, C., Tournier-Lasserve, E., Brenner, R. E., Munro, P. M. G., Williams, S. C. R., Bell, J. D., Hawkins, C. P., Filippi, M., Campi, A., Dousset, V., Canal, N., Comi, G., Zhu, J., Weber, F., Retska, R., List, J., Zhang, L., Brock, M., Taphoorn, M. J. B., Heimans, J. J., van der Veen, E. A., Karim, A. B. M. F., Sarazin, M., Argentino, N., Delattre, J. Y., Derkinderen, P., Buchwald, B., Schroter, G., Serve, G., Franke, C. H., Conrad, B., Kitchen, N. D., Thomas, D. G. T., Forman, A. D., Ang, Kie- Kian, Price, R., Stephens, C., Salmaggi, A., Nermni, R., Silvani, A., Forno, M. G., Luksch, R., Boiardi, A., Grzelec, H., Fryze, C., Nowacki, P., Zdziarska, B., Sanson, M., Merel, P., Richard, S., Rouleau, G., Thomas, G., Olsen, N. K., Pfeiffer, P., Egund, N., Bentzen, S. M., Johannesen, L., Mondrup, K., Rose, C., Zyluk, B., Wondrusch, E., Berger, O., Fast, N., Jellinger, K., Lindner, K., Urman, A., Thibault, J. L., Duyckaerts, Ch., Strik, H., Muller, B., Richter, E., Krauseneck, P., Steinbrecher, A., Schabet, M., Hess, C., Bamberg, M., Dichgans, J., Counsell, C. E., McLeod, M., Grant, R., Creel, G. B., Claus, D., Sieber, E., Engelhardt, A., Rechlin, T., Thierauf, P., Neubauer, U., Peresson, M., Di Giovacchino, G., Romani, G. L., Di Silverio, F., Danek, A., Kuffner, M., Hoermann, R., Schopohl, J., Laska, M., Heye, B., Zangaladze, A. T., Valls-SoIè, J., Cammarota, A., Alvarez, R., Tolosa, E., Hallett, M., Ulbricht, D., Ganslandt, O., Kober, H., Vieth, J., Grummich, P., Pongratz, H., Brigel, C., Fahlbusch, R., Serra, F. P., Palma, V., Nolfe, G., Buscaino, G. A., Rothstein, T. L., Gibson J. M., Morrison P. M., Collins A. D., Eiselt, M., Wagnur, H., Zwiener, U., Schindler, T., Efendi, H., Ertekin, C., Erfas, M., Larsson, L. E., Sirin, H., AraÇ, N., Toygar, A., Demir, Y., Seddigh, S., Vogt, T. H., Hundemer, H., Visbeck, A., Pastena, L., Faralli, F., Mainardi, G., Gagliardi, R., Linden, D., Berlit, P., Lopez, O. L., Becker, J. T., Jungreis, C., Brenner, R., Rezek, D., Dekesky, S. T., Estol, C., Boller, F., Fernandez, J. M., Mederer, S., Batlle, J., Turon, A., Codina, A., Hitzenberger, P., Vila, N., Valls-SolÇ, J., Chamorro, A., Pouget, J., Schmied, A., Morin, D., Azulay, J. Ph., Vedel, J. P., Montalt, J., Escudero, J., Barona, R., Campos, A., Varli, K., Ertem, E., Uludag, B., Yagiz, A., Privorkin, Z., Steinvil, Y., Kott, E., Combarros, O., Sanchez-Pernaute, R., Orizaola, P., Mokrusch, Th., Kutluaye, E., Selcuki, D., Ertikin, C., Zettl, U., Gold, R., Harvey, G. K., Hartung, H. P., Toyka, K. V., Wokke, J. H. J., Oey, P. L., Ippel, P. F., Jansen, G. H., Franssen, H., Toyooka, K., Fujimura, H., Ueno, S., Yoshikawa, H., Yorifuji, S., Yanagihara, T., Talamon, C., Tzourio, C., Kiefer, R., Jung, S., Toyka, K., Ruolt, I., Tranchant, C., Mohr, M., Warter, J. M., Younger, D. S., Rosoklija, G., Hays, A. P., Kurita, R., Hasegawa, O., Matsumto, M., Komiyama, A., Nara, Y., Oueslati, S., Belal, S., Turki, I., Ben Hamida, C., Hentati, F., Ben Hamida, M., Kwiecinski, H., Krolicki, L., Domzal-Stryga, A., Dellemijn, P. L. I., van Deventer, P., van Moll, B., Drogendijk, T., Vecht, Ch. J., Nemni S., Amadio, Fazio, R., Galardin, G., Delodovici, M. L., Peghi, E., Monticelli, M. L., Sessa, A., Viguera, M. L., Palomar, M., Gamez, J., Cervera, C., Navarro, C., Serena, J., Duran, I., Fernandez, A. L., Comabella, M., Nos, C., Rio, J., Montalban, J., Navarro, X., Verdu, E., Darbra, S., Buti, M., Mrabet, A., Fredj, M., Gouider, R., Tounsi, H., Khalfallah, N., Haddad, A., Dbaiss, T., Ghnassia, R., Rouillet, E., Chedru, F., Porsche, H., Strenge, H., Li, S. W., Young, Y. P., Garcia, A. A., Baron, P., Scarpini, E., Bianchi, R., Conti, A., Livraghi, S., Rees, J. H., Gregson, N. A., Hughes, R. A. C., Sedano, M. J., Calleja, J., Canga, E., Bahou, Y., Biary, N., Al Deeb, S. M., Guern, E. L. E., Gugenheim, M., Tardieu, S., Aisonobe, T. M., Agid, Y., Bouche, P., Brice, A., Rautenstrauss, B., Nelis, E., Grehl, H., Van Broeckhoven, C., Pfeiffer, R. A., Liehr, T., Ganzmann, E., Gehring, C., Neundörfer, B., Geremia, L., Doronzo, R., Sacilotto, G., Sergi, P., Pastorino, G. C., Scarlato, G., Planté-Bordeneuve, V., Mantel, A., Baas, F., Moser, H., Antonini, A., Psylla, M., Günther, I., Vontobell, P., Beer, H. F., Leenders, K. L., Chaudhuri, K. Ray, Parker, J., Pye, I. F., Millac, P. A. H., Abbott, R. J., Sutter, M., Albani, C., de Rijk, M. C., Breteler, M. M. B., Graveland, G. A., van der Mechè, F. G. A., Hofman, A., Keipes, M., Hilger, Ch., Diederich, N., Metz, H., Hentges, F., Pollak, P., Benabid, A. L., Limousin, P., Hoffmann, D., Benazzouz, A., Perret, J., Laihinen, A., Rinne, J. O., Ruottinen, H., Nagren, K., Lehikoinen, P., Oikonen, V., Ruotsalainen, U., Rinne, U. K., Cocozza, S., Pizzuti, A., Cavalcanti, F., Monticelli, A., Pianese, L., Redolfi, E., Paiau, F., Di Donato, S., Pandolfo, M., Palau, F., Monros, E., De Michele, G., Smeyers, P., Lopez-ArLandis, J., Uilchez, J., Filla, A., Genis, D., Matilla, T., Volpini, V., Blanchs, M. I., Davalos, A., Molins, A., Rosell, J., Estivill, X., De Jonghe, P., Smeyers, G., Krols, L., Mercelis, R., Hazan, J., Weissenbach, J., Martin, J. J., Warner, T. A. T., Williams, L., Orb, A. S., Harding, A. E., Giunti, P., Sweeney, M. G., Spadaro, M., Jodice, C., Novelletto, A., Malaspina, P., Frontali, M., Salmon, E., Gregoire, Del Fiore, Comar, Franck, G., Scheltens, P. H., Siegfried, K., Dartigues, E., De Deyn, P., Horn, R., Nelson, I., Hanna, M. G., Morgan-Hughes, J. A., Collinge, J., Palmer, M. S., Campbell, T., Mahal, S., Sidle, K., Humphreys, C., Tavitian, B., Pappata, S., Jobert, A., Crouzel, A. M., DiGiamberardino, L., Steimetz, G., Barbanti, P., Fabbrini, G., Salvatore, M., Buzzi, M. G., Di Piero, V., Petraroli, R., Sbriccoli, A., Pocchiari, M., Macchi, G., Lenzi, G. L., Spiegel, R., Maguire, P., Schmid, W., Ott, A., Bots, M. L., Grobbe, D. E., Hofman, A., Howard, R. S., Russell, S., Losseff, N., Hirsch, N. P., Couderc, R., Bailleul, S., Nargeot, M. C., Touchon, J., Picot, M. C., Rizzo, M., Watson, G., McGehee, D., Dingus, T., Kappos, L., Radü, E. W., Haas, J., Hartard, C. H., Spuler, S., Yousry, T., Voltz, R., Scheller, A., Holler, E., Hohlfeld, R., Scolding, N. J., Sussman, J., Kolar, O. J., Farlow, M. R., Rice, P. H., Zipp, F., Sotgiu, S., Weiss, E. H., Wekerle, H., Chalmers, R., Robertson, N., Compston, D. A. S., Martino, G., Clementi, E., Brambilla, E., Moiola, L., Martinelli, V., Colombo, B., Poggi, A., Rovaris, M., Grimaldi, L. M. E., Roth, M. P., Descoins, P., Ballivet, S., Ruidavets, J. B., Waubant, E., Nogueira, L., Cambon-Thomsen, A., Clanet, M., Leppert, D., Hauser, S., Lugaresi, A., Tartaro, A., D'aurelio, P., Befalo, L. L. O., Thomas, A., Malatesta, G., Gambi, D., Benedikz, J. E. G., Magnusson, H., Poser, C. M., Guomundsson, G., Bates, T. E., Davies, S. E. C., Clark, J. B., Landon, D. N., ùther, J. R., Rautenberg, W., Overgaard, K., Sereghy, T., Pedersen, H., Boysen, G., Diez-Tejedor, E., Carceller, F., Gutierrez, M., Lopez-Pajares, R., Roda, J. M., Chandra, B., Ricart, W., Gonzalez-Huix, F., Molina, A., Rundek, T., Demarin, V., De Reuck, J., Boon, P., Decoq, D., Strijckmans, K., Goethals, P., Lemahieu, I., Nibbio, A., Chabriat, H., Vahedi, K., Nagy, T., Verin, M., Mas, J. L., Julien, J., Ducrocq, X., Iba-Zizen, M. T., Cabanis, E. A., Bousser, M. G., Rolland, Y., Landgraf, F., Bompais, B., Lemaitre, M. H., Edan, G., Vorstrup, S., Knudsen, L., Olsen, K. Skovgaard, Videbaek, C., Schroeder, T., van Gijn, J., Jansen, H. M. L., Pruim, J., Paans, A. M. J., Willemsen, A. T. M., Hew, J. M., vd Vliet, A. M., Haaxma, R., Vaalburg, W., Minderhoud, J. M., Korf, J., Soudain, S. E., Ho, T. W., Mishu, B., Li, C. Y., Nachainkin, I., Gao, C. Y., Cornblath, D. R., Griffin, J. W., Asbury, A. K., Blaser, M. J., McKhann, G. M., Ho, T., Macko, C., Xue, P., Stadlan, E. M., Ramos-Alvarez, M., Valenciano, L., Visser, L. H., van der Meché, F. G. A., van Darn, P. A., Meulstee, J., Schmitz, P. I. M., Jacobs, B., Oomes, P. G., Kleyweg, R. P., Jacobs, B. C., Endtz, H. P., van Doorn, P. A., van der Mech, F. G. A., Van den Berg, L. H., Mollee, I., Logtenberg, T., Thomas, P. K., Plant, G., Baxter, P. J., Luis, R. Santiago, Matsumoto, M., Notermans, N. C., Wokke, J. H. J., Lokhorst, H. M., van der Graaf, Y., Jennekens, F. G. I., Azulay, J. P., Bille-Turg, F., Valentin, P., Farnarier, G. G., Pellissier, J. F., Serratrice, G., Quasthoff, S., Schneider, U., Grafe, P., Hilkens, P. H. E., Moll, J. W. B., van der Burg, M. E. L., Planting, A. S. T., van Putten, W. L. J., van den Bent, M. J., Birklein, F., Spitzer, A., Lang, E., Neundorfer, B., Diehl, R. R., Lücke, D., Smith, G. D. P., Mathias, C. J., Serra, J., Campera, M., Ochoa, J. L., Ray Chaudhuri, K., Pavitt, D., Alam, M., Handwerker, H. O., Bleasdale-Barr, K., Smith, G., Murray, N. M. F., Hawkins, P., Pepys, M., Gellera, C., DiDonato, S., Taroni, F., Uncini, A., Di Muzio, A., Servidei, S., Silvestri, G., Lodi, R., Iotti, S., Barbiroli, B., Morrissey, S. P., Borruat, F. X., Francis, D., Mosely, I., Hansen, H. C., Helmke, K., Kunze, K., Sadzot, B., Maquet, P., Lemaire, Plenevaux, Damhaut, Sommer, C., Myers, R. R., Berta, E., Mantegazza, R., Argov, Z., Shapira, Y., Wirguin, I., Beuuer, J., Franke, C., Roberts, M., Willison, H., Vincent, A., Newsom-Davis, J., Morrison, K. E., Damels, R., Francis, M., Campbell, L., Davies, K. E., Kohler, W., Bucka, C., Hertel, G., Kanovsky, P., Auer, D., Ackermann, H., Klose, U., Naegele, Th., Bien, S., Voigt, K., Fink, G. R., Stephan, K. M., Wise, R. J. S., Mullatti, N., Hewer, L., Frackowiak, R. S. J., Weiller, C. S., Rijnites, M., Jueptner, M., Bauermann, T., Krams, M., Diener, H. C., van Walderveen, M. A. A., Barkhof, F., Hommes, O. R., Valk, J., Willmer, J. P., Guzman, D. A., Passingham, R. E., Silbersweig, D., Ceballos-Baumann, A., Frith, C. D., Frackowiak, R., Lucas, C. H., Goullard, L., Marchau, M. J., Godefroy, O., Rondepierre, P. H., Chamas, E., Mounier-Vehier, F., Leys, D., Renato, J., Verdugo, M. S. C., Campero, M., Jose, L., Ochoa, D. S. C., Vivancos, F., Tejedor, E. Diez, Martinez, N., Roda, J., Frank, A., Barreiro, P., Satoh, Y., Nagata, K., Maeda, T., Hirata, Y., YalÇinerner, B., Ozkara, C., Ozer, F., Ozer, S., Hanoglu, L., Zunker, P., Pozo, J. L., Oberwittler, C., Schick, A., Buschmann, H. -Ch., Ringelstein, E. Bernd, Lara, M., Anzola, G. P., Magoni, M., Volta, G. Dalla, Tarasov, A., Feigin, V., Beaudry, M. G., Carrier, S., Chicoutimi, Henriques, I. L., Bogoussslavsky, J., van Melle, G., Mathieu, J., Perusse, L., Allard, P., Prevost, C., Cantin, L., Bouchard, J. M., De Braekeleer, M., Agbo, C., Neau, J. P., Tantot, A. M., Dary-Auriol, M., Ingrand, P., Gil, R., Baltadjiev, D., Zekin, D., Sabey, K., Gennaula, C. P., Pope, B. A., Caparros-Lefebvre, D., Girard-Buttaz, I., Pruvo, J. P., Petit, H., Hipola, D., Martin, M., Giménez-Roldan, S., Ivanez, V., Japaridze, G., Carrasco, J. L., Picomell, I., Herranz, J. L., Macias, J. A., Nieto, M., Noya, M., Oller, L., Kiteva-Trencevska, G., Delgado, M. R., Liu, H., Luengo, A., Parra, J., Colas, J., Fernandez, M. J., Manzanares, R., Kornhuber, M. E., Malashkhia, V., Orkodashili, G., Martinez, M., Bonaventura, I., Porta, G., Martinez, I., Fernandez, A., Aguilar, M., Masnou, P., Drouet, A., Dreyfus, M., Cartron, J., Morel-Kopp, M. C., Tchernia, G., Kaplan, C., Lammers, M. W., Hekster, Y. A., Keyser, A., Meinardi, H., Renier, W. O., Boon, P. A. J. M., Have, M. D., Kint, B., Cruz, P., Cadilha, A., Almeida, R., Goncalves, M., Pimenta, M., Ramos, L. M. P., Polder, T. W., Broere, C. A., Polman, L., Rother, I., Rother, M., Schlaug, G., Arnold, S., Holthausen, H., Wunderlich, G., Ebner, A., Luders, H., Witte, O. W., Seitz, R. J., Serra, L. L., Gallicchio, B., Rotondi, F., Wieshmann, U., Meierkord, H., Sabev, K., Di Carlo, V., Gueguen, B., Derouesné, Ch., Ancri, D., Bourdel, M. C., Guillou, S., Aliaga, R., Chornet, M. A., Rodrigo, A., Pascual, A. Pascual -Leone, Catala, M. D., Pascual-Leone, A., Benbadis, S. R., Dinner, D. S., Chelune, G. J., Lüders, H. O., Piedmonte, M. R., Blanco, T., Lopez, M. P., Romero, B., Deltoro, A., Pascual, A., Pascual, Leone, Bolgert, F., Josse, M. O., Tassan, P., Touze, E., Laplane, D., Godenberg, F., Brizioli, E., Del Gobbo, M., Pelliccioni, G., Scarpino, O., Durak, H., Damlacik, G., Tunca, Z., Fidaner, H., Yurekli, Y., Yemez, B., Kaygisiz, A., Anllo, E. A., Esperet, E., Giovagnoli, A. R., Casazza, M., Spreafico, R., Avanzini, G., Mascheroni, S., Vecchio, I., Tornali, C., Antonuzzo, A., Grasso, A. A., Bella, R., Pennisi, G., Raffaele, R., Broeckx, J., Schildermans, F., Hospers, W., Deberdt, W., Carney, J. M., Aksenova, M., Chen, M. S., Juncadella, M., Busquets, N., De la Fuente, I., Rodriguez, A., Rubio, F., Soler, R., Khati, C., Pillon, B., Deweer, B., Malapani, C., Malichard, N., Dubois, B., Rancurel, G., Lopez, D. L., Jungreia, G., DeKosky, S. T., Boiler, F., Weiller, C., Rijntjes, M., Mueller, S. P., Maguire, E. A., Burke, E. T., Staunton, H., Phillips, J., Rousseaux, M., Pena, J., Bertran, I., Santacruz, P., Lopez, R., Catafau, A., Lomena, F., Blesa, R., Rampello, L., Nicoletti, A., Cabaret, M., Lesoin, F., Steinling, M., Tournev, I., Maier-Hauff, K., Schroeder, M., Wolf, A., Cochin, J. P., Noel, I., Augustin, P., Auzou, P., Hannequin, D., Maria, V., Lopez-Bresnahan, Danielle, D. M., Antin-Ozerkis B. A., Bartels, E., Rodiek, S. O., Flugel, K. A., Campos, D. M., Salas-Puig, J., Del Rio, J. Sanhez, Vidal, J. A., Lahoz, C. H., Eraksoy, M., Barlas, O., Barlas, M., Bayindir, C., Ozcan, H., Birbamer, G., Gerstenbrand, F., Felber, S., Luz, G., Aichner, F., Seidel, G., Kaps, M., Hutzelmann, A., Gerriets, T., Kruggel, F., Martin, P. J., Gaunt, M. E., Abbot, R. J., Naylor, A. R., Meary, E., Dilouya, A., Meder, J. F., De Recondo, J., Lebtahi, R., Neff, K. W., Meairs, S., Viola, S., Matta, E., Aquilone, L., Rise, I. R., Authier, F. J., Kondo, H., Ghnassia, R. T., Degos, J. D., Gherardi, R. K., Bardoni A., Ciafaloni E., Comi G. P., Bresolin N., Robotti M., Moggio M., Rigoletto C., Roses A., Scarlato G., Castelli, E., Turconi, A., Bresolin, N., Perani, D., Felisari, G., Chariot, P., de Pinieux, G., Astier, A., Jacotot, B., Gherardi, R., Fischer-Gagnepain, V., Louboutin, J. P., Crespo, F., Florea-Strat, A., Fromont, G., Sabourin, J. -C., Gonano, E. -F., Moroni, I., Prelle, A., Iannaccone, S., Quattrini, A., deRino, F., Sessa, M., Golzi, V., Smirne, S., Nemni, R., Turpin, J. C., Lucotte, G., Jacobs, S. C. J. M., Willems, P. W. A., Bootsma, A. L., Lasa, A., Calaf, M., Baiget, M., Gallano, B., Fichter-Gagnepain, V., Mazzucchelli, F., D'Angelo, M. G., Velicogna, M., Bet, L., Comi, G. P., Bordoni, A., Gonano, E. F., Bazzi, P., Rapuzzi, S., Moggio, M., Fagiolari, G., Ciscato, P., Messina, A., Battistel, A., Ryniewicz, B., Sangla, I., Desnuelle, C., Paquis, V., Cozzone, P. J., Bendahan, D., Sturenburg, H. J., Kohncke, G., Castellli, E., Linssen, W., Stegeman, D., Binkhorst, R., Notermans, S., Jaspert, A., Fahsold, R., de Munain, A. Lopez, Cobo, A., Martorell, L., Poza, J. J., Navarrete Palau, D., Emparanza, J. I., Sanchez-Roy, R., Vilchez, J. J., Hernandez, M., Tena, J. Garcia, Perla, C., Koutroumanidis, M., Papathanasopoulos, P., Papadimitriou, A., Papapetropoulos, T. H., Divari, R., Hadjigeorgiou, G. M., Anastasopoulos, I., Sansone, V., Rotondo, G., Meola, G., Rigoletto, C., Messina, S., Szwabowska-Orzeszko, E., Jozwiak, S., Michalowicz, R., Szaplyko, W., Petrella, M. A., Della Marca, G., Masullo, G., Mennuni, G. F., Kompf, D., Wascher, E., Verleger, R., Kaido, M., Soga, F., Toyooka, H., Bayon, C., Rubio, J., Carlomagno, S., Parlato, V., Santoro, A., Lavarone, A., Bonavita, V., Pentore, R., Venneri, A., Pasquier, F., Lebert, F., Grymonprez, L., Lefebvre, C., Van der Linden, M., Derouesné, C., Renault, B., Lacomblez, L., Homeyer, P., Ouss, L., Neuman, E., Malbezin, M., Barrandon, S., Guez, D., Stevens, M., van Swieten, J. C., Franke, C. L., Sanchez, A., Castellvirel, S., Mila, M., Jimenez, D., Pallesta, F., Ruiz, P. J. Garcia, Barrio, A., Barroso, T., Benitez, J., de Yebenes, J. Garcia, Manubens, J. M., Martinez-Lage, J. M., Larumbe, R., Muruzabal, J., Lacruz, F., Quesada, Pedro, Gallego, J., Ferini-Strambi, L., Marcone, A., Garancini, P., Tedesi, B., Jacob, B., Rozewicz, L., Langdon, D., Davie, C., Ron, M., Thompson, A., Koepp, M. J., Hansen, M. L., Guldin, B., Pressler, R. M., Ried, S., Scholz, C., Monaco, F., Gianelli, M., Schiavalla, M. P., Naldi, P., Cantello, R., Torta, R., Verze, L., Mutani, R., Knott, H., Ferbert, A., Schulze-Bonhage, A., Aust, W., Di Mascio, R., Marchioli, R., Vitullo, F., Di Pasquale, A., Sciulli, L., Kramer, V., Tognoni, G., Santacruz, P., Lopez, R., Marti, M. J., Charques, I., Catafau, A., Lomeila, F., Peila, J., Bertran, I., Blesa, R., Krendel, D. A., Costiga, D. A., Koeppen, S., Korn, W. M., Brugge, S., Schmitz, D., Scheulen, M. E., King, R. H. M., Robertson, A. M., Thomas, P. K., Kerkhofs, A., Vermersch, P., Dereeper, O., Daems Monpeun, C., Parent, M., Deplanque, D., Petit, H., Campero, M., Serra, J., Ochoa, J. L., Martinez-Matos, J. A., Montero, J., Olivé, M., Rene, R., Vidaller, A., Gugenheim, M., Gouider, R., Le Guern, E., Brice, A., Agid, Y., Bouche, P., Grisold, W., Ziflo, U., Drlicek, M., Budka, H., Jellinger, K., Zielinski, C. H., Ginsberg, L., King, R. H. M., Workman, J., Platts, A. D., Thomas, P. K., Gherardi, R. K., Florea-Strat, A., Poron, F., Sabourin, J. -C., Fazio, R., Nemni, R., Franceschi, M., Lorenzetti, I., Rinaldi, L., Canal, N., Weilbach, F. X., Sennlaub, A., Jung, S., Gold, R., Toyka, K. V., Hartung, H. P., Giegerich, G., Ellie, E., Vital, A., Steck, A. J., Vital, C., Julien, J., Doneda, P., Pizzul, S., Scarpini, E., Chiodi, P., Ramacci, M. T., Livraghi, S., Maimone, D., Annunziata, P., Salvadori, C., Guazzi, G. C., Arne-Bes, M. C., Delisle, M. B., Fabre, N., Hurtevent, J. F., Bes, A., Baudoin-Martin, D., Laborde, E., Viallet, F., Creisson, C., Crespi, V., Bogliun, G., Marzorati, L., Zincone, A., D'Angelo, L., Liberani, A., Merlini, M., Rivolta, R., Creange, A., Sabourin, J. -C., Theodorou, I., Gherardi, R. K., Conti, A. M., Malosio, M. L., Baron, P. L., Scarlato, G., Chorao, R., Rosas, M. J., Leite, I., Callea, L., Donati, E., Bargnani, C., Bud, M., Verdu, E., Navarro, X., Braun, S., Einius, S., Poindron, P., Warier, J. M., Bradley, J., Bekkelund, S. I., Torbergsen, T., Mellgren, S. I., Carlomagno, S., Parlato, V., Santoro, A., Lavarone, A., Boller, F., Bonavita, V., Engelhardt, A., Lörler, H., Robeck, S., Kluglein, C., Comi, G., Avoledo, V., Locatelli, T., Leocani, L., Galardi, G., Magnani, G., Medaglini, S., Chkhikvishvili, T. S., Zangaladze, A., Bratoeva, M., Kovachev, P., Chavdarov, D., Artemis, N., Karacostas, D., Milonas, I., Arpa, J., Lopez-Pajares, R., Cruz-Matinez, A., Sarria, J., Palomo, F., Alonso, M., Rodriguez-Al-barino, A., Lacasa, T., Nos, J., Barreiro, P., Martinez, A. Cruz, Villoslada, C., Alons, M., Taghavy, A., Hamer, H., Kratzer, A., Dethy, S., Pauwels, T., Monclus, M., Luxen, A., Goldman, S., Ziegler, M., Crambes, O., Ragueneau, I., Arnaud, F., Zappia, M., Montesanti, R., Colao, R., Palmieri, A., Branca, D., Nicoletti, G., Rizzo, M., Parlato, G., Quattrone, A., Vanacore, N., Zuchegna, P., Bonifati, V., Meco, G., Scholz, J., Friedrich, H. -J., Rohl, A., Ulm, G., Vieregge, P., Savettieri, G., Rocca, W. A., Meneghini, F., Grigoletto, F., Morgante, L., Reggio, A., Salemi, G., Di Pierri, R., OzckmekÇi, S., Ertan, S., Yeni, N., Apaydin, H., Erkol, G., Kiziltan, G., Denktas, F., Ranoux, D., de Recondo, J., Ostergaard, L., Werdelin, L., Odin, P., Lindvall, O., Dupont, E., Christensen, P. B., Boisen, E., Jensen, N. B., Schmiegelow, M., Ingwersen, S. H., Matias-Guiu, J., Canet, T., Falip, R., Martin, R., Galiano, L., Voloshin, M. Y., Burchinskaya, L. F., Cabrera-Valdivia, F., Jimenez-Jimenez, F. J., Molina, J. A., Fernandez-Calle, P., Vazquez, A., Canizares-Liebana, F., Larumbe-Lobalde, S., Ayuso-Peralta, L., Rabasa, M., Codoceo, R., Arrieta, F. J., Aguilar, M. V., Jorge-Santamaria, A., Martinez-Para, M. C., Alarcon, J., Mateo, D., Gimenez-Roldan, S., Gencheva, E., Tzonev, T. z., Georgiev, G., Petkova, P., Gasparini, M., Vanacore, N., Meco, N. G., de la Sierra, G., Aguado, F., Revilla, M., Varela, L., Rico, H., Feve, A., N'Guyen, J. P., Bathien, N., Fenelon, G., Veroust, J., Cesaro, P., Egersbach, G., Hattig, H., Schelosky, L., Wissel, J., Poewe, W., Durif, F., Albuisson, E., Debilly, B., Tournilhac, M., Magnani, C., Mocellini, C., Soffietti, R., Schiffer, D., Cardozo, A., Cruz-Sanchez, F. F., Falip, L., Potagas, G., Ziegler, M., Rondot, P., Bonifati, V., Fabrizio, E., Meco, G., Bostantjopoulou, S., Katsarou, Z., Kyriazis, G., Baas, H., Demisch, L., Esser, A., Zoeller, F., Burklin, F., Harder, S., Fischer, P. A., Arcusa, M. J., Hermandez, S., Claramonte, F. J., Pascual, A. Pascual- Leone, Alonso, M. D., Catata, M. D., Alessandri, A., Giustini, P., Dufour, A., Ciusani, E., Nespolo, A., Roelcke U., Radu E. W., von Ammon K., Maguire R. P., Leenders K. L., Radionova, M., Chavdarov, D., Bratoeva, M., Tzekov, Ch., Pietrangeli, A., Bove, L., Pace, A., Falqui, L., Jandolo, B., Potemkowski, A., Muller B., Reinhard I., Krone A., Warmuth M., Brocker E. 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M., Pleiffer, G., Kunre, K., Dieterich, M., Brandt, Th., Guarino, M., Stracciari, A., Pazzaglia, P., D'Alessandro, R., Santilli, I., Donato, M., The European Velnacrine Study Group, The Dutch Guillain-Barré study group, The COP-1 Multicenter Clinical and Research Group Study, and European Study Group
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36. Generation of an induced pluripotent stem cell line from a healthy Caucasian male
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Martínez-Moreno, Rebecca, Pérez-Serra, Alexandra, Carreras, David, Aran, Begoña, Kuebler, Bernd, Brugada, Ramon, Scornik, Fabiana S., Pérez, Guillermo J., and Selga, Elisabet
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- 2022
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37. Minimal hepatic encephalopathy and extrapyramidal signs in patients with cirrhosis
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Jover, Rodrigo, Compañy, Luís, Gutiérrez, Ana, Zapater, Pedro, Pérez-Serra, Juan, Girona, Eva, Aparicio, José R, and Pérez-Mateo, Miguel
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- 2003
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38. Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies
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Campuzano, Oscar, primary, Fernandez-Falgueras, Anna, additional, Sarquella-Brugada, Georgia, additional, Cesar, Sergi, additional, Arbelo, Elena, additional, García-Álvarez, Ana, additional, Jordà, Paloma, additional, Coll, Monica, additional, Fiol, Victoria, additional, Iglesias, Anna, additional, Perez-Serra, Alexandra, additional, Mates, Jesus, additional, del Olmo, Bernat, additional, Ferrer, Carles, additional, Alcalde, Mireia, additional, Puigmulé, Marta, additional, Mademont-Soler, Irene, additional, Pico, Ferran, additional, Lopez, Laura, additional, Tiron, Coloma, additional, Brugada, Josep, additional, and Brugada, Ramon, additional
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- 2019
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39. Genetic interpretation and clinical translation of minor genes related to Brugada syndrome
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Campuzano, Oscar, primary, Sarquella‐Brugada, Georgia, additional, Fernandez‐Falgueras, Anna, additional, Cesar, Sergi, additional, Coll, Monica, additional, Mates, Jesus, additional, Arbelo, Elena, additional, Perez‐Serra, Alexandra, additional, del Olmo, Bernat, additional, Jordá, Paloma, additional, Fiol, Victoria, additional, Iglesias, Anna, additional, Puigmulé, Marta, additional, Lopez, Laura, additional, Pico, Ferran, additional, Brugada, Josep, additional, and Brugada, Ramon, additional
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- 2019
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40. Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant
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Tiron, Coloma, Campuzano, Oscar, Pérez-Serra, Alexandra, Mademont, Irene, Coll, Monica, Allegue, Catarina, Iglesias, Anna, Partemi, Sara, Striano, Pasquale, Oliva, Antonio, and Brugada, Ramon
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- 2015
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41. P1694Natural and undetermined sudden death: value of post-mortem genetic investigation
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Campuzano Larrea, O., primary, Fernandez, A., additional, Mademont, I., additional, Coll, M., additional, Perez-Serra, A., additional, Mates, J., additional, Del Olmo, B., additional, Ferrer-Costa, C., additional, Sarquella-Brugada, G., additional, Cesar, S., additional, Carro, E., additional, Brugada, J., additional, Castella, J., additional, Medallo, J., additional, and Brugada, R., additional
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- 2017
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42. Genetic basis of atrial fibrillation
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Campuzano, Oscar, primary, Perez-Serra, Alexandra, additional, Iglesias, Anna, additional, and Brugada, Ramon, additional
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- 2016
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43. Identification of N-terminal protein acetylation and arginine methylation of the voltage-gated sodium channel in end-stage heart failure human heart
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Beltran-Alvarez, Pedro, Tarradas, Anna, Chiva, Cristina, Pérez-Serra, Alexandra, Batlle, Montserrat, Pérez-Villa, Félix, Schulte, Uwe, Sabidó, Eduard, Brugada, Ramon, and Pagans, Sara
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- 2014
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44. Biomarker discovery by plasma proteomics in familial LMNA dilated cardiomyopathy
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Izquierdo, I., primary, De Gonzalo-Calvo, D., additional, Llorente-Cortes, V., additional, Rosa, I., additional, Brugada, R., additional, Oscar, C., additional, Perez-Serra, A., additional, Broncano, J., additional, Luna, A., additional, Vazquez-Alfageme, J., additional, Gonzalez-Juanatey, J.R., additional, Mangas, A., additional, Garcia, A., additional, and Toro, R., additional
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- 2016
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45. Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain
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H. Hattig, C. Delli Pizzi, M. C. Addonizio, Michelle Davis, A. R. Giovagnoli, L. Florensa, M. Roth, J. de Kruijk, Francisco Lacruz, Ph. Dewailly, A. Toygar, C. Avendano, P.P. De Deyn, J. F. Hurtevent, F. Lomeila, T. W. Wong, Gordon T. Plant, M. Bud, H. J. Willison, DH Miller, D. W. Langdon, R. Cioni, J. Servan, A. Kaygisiz, E. Racadot, D. B. Schens, E. Picciola, L. Falip, C. Bouchard, J. Jotova, A. Jorge-Santamaria, P. Misra, A. Dufour, C. P. Panagopoulos, A. Venneri, B. Sredni, B. Angelard, M. Janelidze, M. Carreno, J. Obenberger, J. Pouget, H. W. Moser, R. Kaufmann, J. A. Molina, D. Linden, A. Martin Urda, E. Uvestad, A. Krone, J. P. Cochin, J. Mallecourt, A. Cambon-Thomsen, K. Violleau, P. Osschmann, A. M. Durocher, E. Bussaglia, D. M. Danielle, H. Efendi, C. Van Broeckhoven, K. G. Jordan, W. Rautenberg, C. Iniguez, J. M. Delgado, Graham Watson, M. Lawden, Gareth J. Barker, K. Stiasny, James T. Becker, G. Campanella, E. Peghi, A. Poli, A. Haddad, T. Yamawaki, Giacomo P. Comi, S. Sotgiu, B. Ersmark, A. Pomes, M. Ziegler, P. Ferrante, P. Ruppi, H. KuÇukoglu, R. Bouton, U. K. Rinne, P. Vieregge, M. Dary, P. Giunti, Peter J. Goadsby, S. Jung, E. Secor, A. Steinberg, N. Vila, M. A. Hernandez, M. Cursi, A. Enqelhardt, A. Engelhardt, J. Veitch, F. Di Silverio, F. Arnaud, B. Neundörfer, R. Brucher, Dominique Caparros-Lefebvre, B. Meyer, Marianne Dieterich, M. H. Snidaro, R. Gomez, R. Cerbo, M. Ragno, J. M. Vance, S. Nemni, A. Caliskan, F. Barros, I. Velcheva, D. Ceballos-Baumann, V. Barak, A. Avila, N. Antonova, F. Resche, S. Pappata, L. Varela, S. R. Silveira Santos, A. Cammarota, L. Naccache, Y. Nara, E. Tournier-Lasserves, R. Mobner, T. Chase, A. Ensenyat, J. Ulrich, G. Giegerich, M. Rother, M. Revilla, N. Nitschke, K. Honczarenko, E. Basart Tarrats, J. Blin, B. Jacob, J. Santamaria, S. Knezevic, J. L. Castillo, M. Antem, J. Colomer, O. Busse, Didier Hannequin, S. Carrier, J. B. Ruidavets, C. Rozman, J. Bogoussslavsky, J. Pascual Calvet, E. Monros, J. M. Polo, M. Zucconl, Javier Muruzabal, R. R. Allen, R. Rivolta, K. Haugaard, A. Nespolo, K. Hoang-Xuang, G. Bussone, T. Avramidis, E. Corsini, Christiana Franke, T. Vinogradova, H. Boot, K. Vestergaard, G. H. Jansen, N. Argentino, M. Raltzig, W. Linssen, Mark B. Pepys, P. Roblot, L. Lauritzen, E. Fainardi, D. Morin, T. X. Arbizu Urdiain, J. Wollenhaupt, S. Bostantjopoulou, G. Pavesi, A. D. Forman, Giovanni Fabbrini, D. Jean, J. J. Archelos, M. I. Blanchs, M. Del Gobbo, Anna Carla Turconi, Ch. Derouesné, Elio Scarpini, A. Visbeck, P. Castejon, J. P. Renou, F. Mounier-Vehier, G. Potagas, Ch. Duyckaerts, A. Filla, R. Schneider, G. Ronen, K. Nagata, J. P. Vedel, A. Henneberg, G. van Melle, C. Baratti, H. Knott, M. C. Prevett, A. Bes, B. Metin, Jos V. Reempts, L. Martorell, Mefkure Eraksoy, H. O. Handwerker, D. S. Younger, O. Oktem, D. Frongillo, C. Soriano-Soriano, L. Niehaus, F. Zipp, A. Tartaro, S Newman, R. H. Browne, P. Davous, R. Sanchez, M. Muros, M. E. Kornhuber, A. Lavarone, M. Mohr, M. R. Garcia, S. Russell, H. Kellar-Wood, M. R. Tola, B. Ostermeyer, Ch. Tzekov, K. Sartor, E. B. Ringelstein, P. P. Gazzaniga, Paul Krack, H. Fidaner, H. Rico, T. Dbaiss, F. Alameda, E. Torchiana, L. Rumbach, I. Charques, J. M. Bogaard, C. D. Frith, L. J. Rappelle, R. Brenner, A. Joutel, K. Fuxe, G. HÄcker, M. J. Blaser, J. Valls-SolÇ, G. Ulm, M. Alberdi, A. Bock, F. W. Bertelsmann, U. Wieshmann, J. Visa, J. R. Lupski, D. D'Amico, L. M. P. Ramos, A. A. Vanderbark, R. Horn, M. Warmuth, Dietmar Kühne, Mark S. Palmer, C. Ehrenheim, E. Canga, S. Viola, O. Scarpino, P. Naldi, R. Almeida, A. A. Raymond, J. Gamez, Stephan Arnold, A. DiGiovanni, J. Dalmau, C. C. Chari, H. F. Beer, J. C. Koetsier, J. Iriarte, E. Yunis, J. Casadevall, E. Le Guern, E. Stenager, S. R. Benbadis, J. M. Warter, F. Burklin, I. Theodorou, L. Johannesen, G. A. Graveland, X. Leclerc, I. Vecchio, L. Ozelius, G. Nicoletti, R. K. Gherardi, E. Esperet, M. L. Delodovici, F. Cattin, F. Paiau, Giorgio Sacilotto, C. A. J. Broere, D. Chavdarov, J. P. Willmer, C. H. Hawkes, Th. Naegele, E. Ellie, E. Dartigues, M. J. Guardiola, S. Hesse, Z. Levic, Marco Rovaris, P. Saugeir-Veber, B. A. Yaqub, H. F. Durwen, R. Larumbe, J. Ballabrina, M. Sendtner, J. Röther, M. Horstink, C. Kluglein, M.P. Montesi, H. Apaydin, J. Montoya, E. Waubant, Ch. Verellen-Dunoulin, A. Nicolai, J. Lopez-Delval, R. Lemon, G. Cantinho, E. Granieri, A. Zeviani, Wolfgang H. Oertel, U. Ficola, V. Di Piero, V. Fragola, K. Sabev, M. V. Guitera, I. Turki, F. Bolgert, P. Ingrand, J. M. Gobernado, L. M. E. Grimaldi, S. Baybas, B. Eymard, Y. Rolland, Y. Robitaille, Ta. Pampols, P. J. Koehler, A. Carroacedo, J. Vilchez, S. Di Vittorio, I. R. Rise, T. Nagy, M. Kuffner, E. Palazzini, A. Ott, J. Pruim, T. X. Arbizu, E. Manetti, C. Cervera, S. Felber, G. Gursoy, J. Scholz, G. A. Buscaino, M. S. Chen, A. Pascual, J. Hazan, J. U. Gajda, J. G. Cea, G. Bottini, G. Damalik, F. Le Doze, G. Bonaldi, J. M. Hew, C. Messina, A. M. Kennedy, J. M. Carney, N. M. F. 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C. Patrosso, N. L. Gershfeld, P. A. J. M. Boon, O. Sabouraud, M. Lara, J. Svennevig, G. L. Lenzi, A. Barrio, H. Villaroya, JosÇ M. Manubens, O. Boespflug-Tanguy, M. Carreras, D. A. Costiga, J. P. Breux, S. Lynn, C. Oliveras Ley, A. G. Herbaut, J. Nos, C. Tornali, Y. A. Hekster, J. L. Chopard, J. M. Manubens, P. Chemouilli, A. Jovicic, F. Dworzak, S. Smirne, S. E. Soudain, B. Gallano, D. Lubach, G. Masullo, G. Izquierdo, A. Pascual Leone Pascual, A. Sessa, V. Freitas, O. Crambes, L. Ouss, G. W. Van Dijk, P. Marchettini, P. Confalonieri, M. Donaghy, A. Munnich, M. Corbo, and M. E. L. van der Burg
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Neurology ,business.industry ,Media studies ,Library science ,Medicine ,Neurology (clinical) ,business - Published
- 1994
46. Reply to letter to editor: “Genetic basis of dilated cardiomyopathy”
- Author
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Pérez-Serra, Alexandra, Brugada, Ramon, and Campuzano, Oscar
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- 2017
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47. Sudden death and familal dilated cardiomiopathy: genotype/phenotype correlation with different clinical presentations
- Author
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Ruiz, B., primary, Toro, R., additional, Quezada-Feijoo, M., additional, Perez-Serra, A., additional, Campuzano, O., additional, Brugada, R., additional, and Mangas, A., additional
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- 2014
- Full Text
- View/download PDF
48. 649 MOLECULAR EPIDEMIOLOGY OF HEPATITIS C VIRUS GENOTYPE 5A IN FRANCE (A MULTICENTRE STUDY ANRS)
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M. Van Ranst, Cécile Henquell, Gilles Bommelaer, Armando Abergel, Hélène Peigue-Lafeuille, R.-J. Perez Serra, Jean-Luc Bailly, Jannick Verbeeck, K. Randl, and Julien Guglielmini
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Hepatology ,Molecular epidemiology ,Hepatitis C virus genotype ,Biology ,Virology - Published
- 2010
49. A Better Look at Learning: How Does the Brain Express the Mind?
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Perez-Alvarez, Frederic, primary, Perez-Serra, Alexandra, additional, and Timoneda-Gallart, Carme, additional
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- 2013
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50. Corrigendum to “Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant” [Seizure 25 (2015) 65–67]
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Tiron, Coloma, Campuzano, Oscar, Pérez-Serra, Alexandra, Mademont, Irene, Coll, Monica, Allegue, Catarina, Iglesias, Anna, Partemi, Sara, Striano, Pasquale, Oliva, Antonio, and Brugada, Ramon
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- 2015
- Full Text
- View/download PDF
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