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12 p, 1.2 MB |
Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment
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Muiño, Elena (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Maisterra Santos, Olga (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Jiménez-Balado, Joan (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Cullell, Natalia (Mútua de Terrassa) ;
Carrera, Caty (Institut d'Investigació Biomèdica Sant Pau) ;
Torres-Aguila, Nuria P. (Institut d'Investigació Biomèdica Sant Pau) ;
Cárcel-Márquez, Jara (Institut d'Investigació Biomèdica Sant Pau) ;
Gallego-Fabrega, Cristina (Institut d'Investigació Biomèdica Sant Pau) ;
Lledós, Miquel (Institut d'Investigació Biomèdica Sant Pau) ;
González-Sánchez, Jonathan (The Manchester Metropolitan University of All Saints) ;
Olmos-Alpiste, Ferran (Parc de Salut MAR de Barcelona) ;
Espejo, Eva (Parc de Salut MAR de Barcelona) ;
March, Álvaro (Parc de Salut MAR de Barcelona) ;
Pujol Vallverdú, Ramón M.. (Parc de Salut MAR de Barcelona) ;
Rodríguez Campello, Ana (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Romeral, Gemma (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Krupinski, Jurek (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Martí-Fàbregas, Joan (Institut d'Investigació Biomèdica Sant Pau) ;
Montaner, Joan (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Roquer González, Jaume (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
CADASIL is a small vessel disease caused by mutations in NOTCH3 that lead to an odd number of cysteines in the EGF-like repeat domain, causing protein misfolding and aggregation. The main symptoms are migraine, psychiatric disturbances, recurrent strokes and dementia, being executive function characteristically impaired. [...]
2021 -  10.1038/s41598-021-86349-1
Scientific reports, Vol. 11 (march 2021)
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10 p, 806.0 KB |
Detailed phenotyping of posterior vs. anterior circulation ischemic stroke : a multi-center MRI study
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Frid, Petrea (Skåne University Hospital (Suècia)) ;
Drake, Mattias (Skåne University Hospital (Suècia)) ;
Giese, A. K. (Massachusetts Institute of Technology (MIT). Broad Institute) ;
Wasselius, J. (Skåne University Hospital (Suècia)) ;
Schirmer, M. D. (German Centre for Neurodegenerative Diseases (DZNE). Department of Population Health Sciences) ;
Donahue, K. L. (Harvard Medical School) ;
Cloonan, Lisa (Harvard Medical School) ;
Irie, R. (Harvard Medical School) ;
Bouts, Mark (Harvard Medical School) ;
McIntosh, E. C. (Harvard Medical School) ;
Mocking, S. J. T. (Harvard Medical School) ;
Dalca, Adrian Vasile (Harvard Medical School) ;
Sridharan, Ramesh (Massachusetts Institute of Technology (MIT). Computer Science and Artificial Intelligence Laboratory) ;
Xu, H. (University of Maryland School of Medicine) ;
Giralt Steinhauer, Eva (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Holmegaard, Lukas (Sahlgrenska University Hospital (Suècia)) ;
Jood, Katarina (Sahlgrenska University Hospital (Suècia)) ;
Roquer González, Jaume (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Cole, John W. (University of Maryland School of Medicine) ;
McArdle, P. F. (University of Maryland School of Medicine) ;
Broderick, Joseph P (University of Cincinnati College of Medicine. Department of Neurology and Rehabilitation Medicine) ;
Jimenez-Conde, Jordi (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Jern, C. (The Sahlgrenska Academy at University of Gothenburg. Institute of Biomedicine) ;
Kissela, B. M. (University of Cincinnati College of Medicine. Department of Neurology and Rehabilitation Medicine) ;
Kleindorfer, D. O. (University of Cincinnati College of Medicine. Department of Neurology and Rehabilitation Medicine) ;
Lemmens, R. (University Hospitals Leuven (Bèlgica)) ;
Meschia, J. F. (Mayo Clinic. Department of Neurology) ;
Rundek, T. (University of Miami. Department of Neurology) ;
Sacco, R. L. (University of Miami. Department of Neurology) ;
Schmidt, Reinhold (Medical University Graz. Clinical Division of Neurogeriatrics, Department of Neurology) ;
Sharma, P. (Ashford and St Peter's Hospital (Ashford, Regne Unit)) ;
Slowik, A. (Jagiellonian University Medical College. Department of Neurology) ;
Thijs, V. (Austin Health. Department of Neurology) ;
Woo, D. (University of Cincinnati College of Medicine. Department of Neurology and Rehabilitation Medicine) ;
Worrall, B. B. (University of Virginia. Department of Public Health Sciences) ;
Kittner, S. J. (University of Maryland School of Medicine and Veterans Affairs Maryland Health Care System. Department of Neurology) ;
Mitchell, B. D. (Veterans Administration Medical Center. Geriatric Research and Education Clinical Center) ;
Petersson, J. (Skåne University Hospital (Suècia)) ;
Rosand, J. (Massachusetts General Hospital (Boston)) ;
Golland, P. (Massachusetts Institute of Technology (MIT). Computer Science and Artificial Intelligence Laboratory) ;
Wu, O. (Harvard Medical School) ;
Rost, N. S. (Massachusetts General Hospital (Boston)) ;
Lindgren, A. (Skåne University Hospital (Suècia)) ;
Universitat Autònoma de Barcelona
Posterior circulation ischemic stroke (PCiS) constitutes 20-30% of ischemic stroke cases. Detailed information about differences between PCiS and anterior circulation ischemic stroke (ACiS) remains scarce. [...]
2019 - 10.1007/s00415-019-09613-5
Journal of Neurology, Vol. 267 (november 2019) , p. 649-658
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12 p, 544.9 KB |
Association of Apolipoprotein e with Intracerebral Hemorrhage Risk by Race/Ethnicity : A Meta-analysis
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Marini, Sandro (Massachusetts General Hospital (Boston)) ;
Crawford, Katherine (Massachusetts General Hospital (Boston)) ;
Morotti, A. (Fondazione Mondino IRCCS, Pavia) ;
Lee, M. J. (Massachusetts General Hospital (Boston)) ;
Pezzini, Alessandro (Università degli Studi di Brescia) ;
Moomaw, C. J. (University of Cincinnati) ;
Flaherty, M. L. (University of Cincinnati) ;
Montaner, Joan (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Roquer González, Jaume (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Jimenez Conde, Jordi (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Giralt Steinhauer, Eva (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Elosua, Roberto (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Cuadrado-Godia, Elisa (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Soriano Tarraga, Carolina (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Slowik, A. (Jagiellonian University Medical College, Kraków) ;
Jagiella, Jeremiasz M (Jagiellonian University Medical College, Kraków) ;
Pera, J. (Jagiellonian University Medical College, Kraków) ;
Urbanik, Andrzej (Jagiellonian University Medical College, Kraków) ;
Pichler, A. (Jagiellonian University Medical College, Kraków) ;
Hansen, Björn M (Lund University) ;
McCauley, J. L. (John P. Hussman Institute for Human Genomics, Miami) ;
Tirschwell, D. L. (University of Washington) ;
Selim, Magdy (Beth Israel Deaconess Medical Center, Boston) ;
Brown, D. L. (University of Michigan) ;
Silliman, Scott L. (University of Florida College of Medicine) ;
Worrall, B. B. (University of Virginia Health System) ;
Meschia, J. F. (Mayo Clinic, Jacksonville, Florida) ;
Kidwell, C. S. (University of Arizona) ;
Testai, F. D. (University of Illinois) ;
Kittner, S. J. (University of Maryland School of Medicine) ;
Schmidt, H. (Medical University of Graz) ;
Enzinger, C. (Medical University of Graz) ;
Deary, Ian J. (University of Edinburgh) ;
Rannikmae, K. (University of Edinburgh) ;
Samarasekera, N. (University of Edinburgh) ;
Salman, R. A. S. (University of Edinburgh) ;
Sudlow, C. L. (University of Edinburgh) ;
Klijn, C. J. M. (UMC Utrecht Brain Center Rudolf Magnus) ;
Van Nieuwenhuizen, K. M. (UMC Utrecht Brain Center Rudolf Magnus) ;
Fernandez-Cadenas, Israel (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Delgado Martínez, María Pilar (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Norrving, B. (Lund University) ;
Lindgren, A. (Lund University) ;
Goldstein, J. N. (Massachusetts General Hospital (Boston)) ;
Viswanathan, Anand (Massachusetts General Hospital (Boston)) ;
Greenberg, S. M. (Massachusetts General Hospital (Boston)) ;
Falcone, G. J. (Yale University) ;
Biffi, Alessandro (Massachusetts General Hospital (Boston)) ;
Langefeld, Carl D (Wake Forest University, Winston-Salem, North Carolina) ;
Woo, D. (University of Cincinnati College of Medicine) ;
Rosand, J. (Massachusetts General Hospital (Boston)) ;
Anderson, C. D. (Massachusetts General Hospital (Boston)) ;
Universitat Autònoma de Barcelona
Importance: Genetic studies of intracerebral hemorrhage (ICH) have focused mainly on white participants, but genetic risk may vary or could be concealed by differing nongenetic coexposures in nonwhite populations. [...]
2019 - 10.1001/jamaneurol.2018.4519
JAMA Neurology, Vol. 76 Núm. 4 (april 2019) , p. 480-491
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15 p, 517.3 KB |
GRECOS project (Genotyping Recurrence Risk of Stroke). The use of genetics to predict the vascular recurrence after stroke
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Fernandez-Cadenas, Israel (Hospital Universitari Vall d'Hebron) ;
Mendióroz, Maite (Hospital Universitari Vall d'Hebron) ;
Giralt, Dolors (Hospital Universitari Vall d'Hebron) ;
Nafría, Cristina (Hospital Universitari Vall d'Hebron) ;
Garcia, Elena (Fundació Docència i Recerca Mútua Terrassa) ;
Carrera, Caty (Hospital Universitari Vall d'Hebron) ;
Gallego-Fabrega, Cristina (Fundació Docència i Recerca Mútua Terrassa) ;
Domingues-Montanari, Sophie (Hospital Universitari Vall d'Hebron) ;
Delgado Martínez, María Pilar (Hospital Universitari Vall d'Hebron) ;
Ribo, Marc (Hospital Universitari Vall d'Hebron) ;
Castellanos, Mar (Hospital Universitari de Girona Doctor Josep Trueta) ;
Martínez, Sergi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Freijo, Mari Mar (Hospital de Basurto (Bilbao, Biscaia)) ;
Jiménez-Conde, Jordi (Hospital del Mar (Barcelona, Catalunya)) ;
Rubiera, Marta (Hospital Universitari Vall d'Hebron) ;
Álvarez-Sabin, José (Hospital Universitari Vall d'Hebron) ;
Molina, Carlos A. (Hospital Universitari Vall d'Hebron) ;
Font, Maria Angels (Hospital Universitari de Bellvitge) ;
Grau Olivares, Marta (Hospital del Sagrat Cor (Barcelona, Catalunya)) ;
Palomeras, Ernest (Hospital de Mataró. Consorci Sanitari del Maresme) ;
Pérez de la Ossa, Natalia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Martinez Zabaleta, Maite (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ;
Masjuan, Jaime (Hospital Universitario Ramón y Cajal (Madrid)) ;
Moniche, Francisco (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Cánovas, David (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Piñana, Carlos (Hospital Universitario Virgen de las Nieves (Granada)) ;
Purroy, Francisco (Hospital Arnau de Vilanova (Lleida, Catalunya)) ;
Cocho, Dolores (Hospital General de Granollers) ;
Navas, Inma (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Tejero, Carlos (Hospital Clínico Universitario "Lozano Blesa" de Zaragoza) ;
Aymerich, Nuria (Complejo Hospitalario de Navarra) ;
Cullell, Natalia (Fundació Docència i Recerca Mútua Terrassa) ;
Muiño, Elena (Fundació Docència i Recerca Mútua Terrassa) ;
Serena, Joaquín (Hospital Universitari de Girona Doctor Josep Trueta) ;
Rubio, Francisco (Hospital Universitari de Bellvitge) ;
Dávalos, Antoni (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Roquer González, Jaume (Hospital del Mar (Barcelona, Catalunya)) ;
Arenillas, Juan F.. (Hospital Clínico Universitario de Valladolid) ;
Martí-Fàbregas, Joan (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Keene, Keith (Center for Health Disparities. East Carolina University) ;
Chen, Wei-Min (University of Virginia) ;
Worrall, Bradford (University of Virginia) ;
Sale, Michele (Center for Public Health Genomics, University of Virginia) ;
Arboix, Adrià (Hospital del Sagrat Cor (Barcelona, Catalunya)) ;
Krupinski, Jerzy (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Montaner, Joan (Hospital Universitari Vall d'Hebron) ;
GRECOSstudy group ;
Universitat Autònoma de Barcelona
Background and Purpose-Vascular recurrence occurs in 11% of patients during the first year after ischemic stroke (IS) or transient ischemic attack (TIA). Clinical scores do not predict the whole vascular recurrence risk, therefore we aimed to find genetic variants associated with recurrence that might improve the clinical predictive mode is in IS. [...]
2017 - 10.1161/STROKEAHA.116.014322
Stroke, Vol. 48 Núm. 5 (2017) , p. 1147-1153
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6 p, 403.0 KB |
Prevalence of cardiovascular risk factors in people with epilepsy
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Vivanco-Hidalgo, Rosa Maria (Universitat Autònoma de Barcelona) ;
Gómez González, Alejandra (Parc de Salut Mar. Departament de Neurologia) ;
Moreira Villanueva, Antía (Parc de Salut Mar. Departament de Neurologia) ;
Díez, Laura (Parc de Salut Mar. Departament de Neurologia) ;
Elosua, Roberto (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Roquer González, Jaume (Universitat Autònoma de Barcelona)
Epilepsy has been associated with cardiovascular comorbidity. This study aimed to assess the potential association between cardiovascular risk factors (s), antiepileptic drugs (s), and etiology. A single-center retrospective epilepsy cohort from the decade of 2004-2013 was assessed. [...]
2017 - 10.1002/brb3.618
Brain and behavior, Vol. 7, issue 2 (Feb. 2017)
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11 p, 168.8 KB |
Genetic variants in CETP increase risk of intracerebral hemorrhage
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Anderson, Christopher D. (Broad Institute of MIT and Harvard) ;
Falcone, Guido J. (Departments of Epidemiology and Biostatistics, Harvard T. H. Chan School of Public Health) ;
Phuah, Chia-Ling (Broad Institute of MIT and Harvard) ;
Radmanesh, Farid (Broad Institute of MIT and Harvard) ;
Brouwers, H. Bart (Broad Institute of MIT and Harvard) ;
Battey, Thomas W. K. (Broad Institute of MIT and Harvard) ;
Biffi, Alessandro (Division of Psychiatry, Department of Psychiatry, MGH) ;
Peloso, Gina M. (Broad Institute of MIT and Harvard) ;
Liu, Dajiang J. (Institute of Personalized Medicine, Penn State College of Medicine) ;
Ayres, Alison M. (J. Philip Kistler Stroke Research Center, Department of Neurology, MGH) ;
Goldstein, Joshua N. (Department of Emergency Medicine, MGH) ;
Viswanathan, Anand (J. Philip Kistler Stroke Research Center, Department of Neurology, MGH) ;
Greenberg, Steven M. (J. Philip Kistler Stroke Research Center, Department of Neurology, MGH) ;
Selim, Magdy (Beth Israel Deaconess Medical Center) ;
Meschia, James F. (Mayo Clinic) ;
Brown, Devin L. (University of Michigan Health System) ;
Worrall, Bradford B. (University of Virginia Health System) ;
Silliman, Scott L. (University of Florida College of Medicine) ;
Tirschwell, David L. (University of Washington) ;
Flaherty, Matthew L. (University of Cincinnati College of Medicine) ;
Kraft, Peter (Departments of Epidemiology and Biostatistics, Harvard T. H. Chan School of Public Health) ;
Jagiella, Jeremiasz M. (Jagiellonian University Medical College) ;
Schmidt, Helena (Medical University Graz) ;
Hansen, Björn M. (Skåne University Hospital (Suècia)) ;
Jimenez-Conde, Jordi (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Giralt Steinhauer, Eva (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Elosua, Roberto (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Cuadrado-Godia, Elisa (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Soriano Tàrraga, Carolina (Institut Hospital del Mar d'Investigacions Mèdiques) ;
van Nieuwenhuizen, Koen M. (University Medical Center Utrecht) ;
Klijn, Catharina J. M. (Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center) ;
Rannikmae, Kristiina (University of Edinburgh) ;
Samarasekera, Neshika (University of Edinburgh) ;
Salman, Rustam Al-Shahi (University of Edinburgh) ;
Sudlow, Catherine L. (University of Edinburgh) ;
Deary, Ian J. (University of Edinburgh) ;
Morotti, Andrea (Neurology Clinic, University of Brescia) ;
Pezzini, Alessandro (Neurology Clinic, University of Brescia) ;
Pera, Joanna (Jagiellonian University Medical College) ;
Urbanik, Andrzej (Jagiellonian University Medical College) ;
Pichler, Alexander (Medical University of Graz) ;
Enzinger, Christian (Medical University of Graz) ;
Norrving, Bo (Skåne University Hospital (Suècia)) ;
Montaner, Joan (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Fernandez-Cadenas, Israel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Delgado Martínez, María Pilar (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Roquer González, Jaume (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Lindgren, Arne (Skåne University Hospital (Suècia)) ;
Slowik, Agnieszka (Jagiellonian University Medical College) ;
Schmidt, Reinhold (Medical University of Graz) ;
Kidwell, Chelsea S. (University of Arizona) ;
Kittner, Steven J. (Baltimore Veterans Administration Medical Center and University of Maryland School of Medicine) ;
Waddy, Salina P. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Langefeld, Carl D. (Wake Forest University) ;
Abecasis, Goncalo (University of Michigan School of Public Health) ;
Willer, Cristen J. (University of Michigan Medical School) ;
Kathiresan, Sekar (Cardiovascular Disease Prevention Center, MGH) ;
Woo, Daniel (University of Cincinnati College of Medicine) ;
Rosand, Jonathan (Broad Institute of MIT and Harvard) ;
Universitat Autònoma de Barcelona.
Departament de Neurologia
In observational epidemiologic studies, higher plasma high-density lipoprotein cholesterol (HDL-C) has been associated with increased risk of intracerebral hemorrhage (ICH). DNA sequence variants that decrease cholesteryl ester transfer protein (CETP) gene activity increase plasma HDL-C; as such, medicines that inhibit CETP and raise HDL-C are in clinical development. [...]
2016 - 10.1002/ana.24780
Annals of neurology, Vol. 80 (october 2016) , p. 730-740
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