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Articles 22 registres trobats  1 - 10següentfinal  anar al registre:
1.
12 p, 2.1 MB ICA1L Is Associated with Small Vessel Disease : A Proteome-Wide Association Study in Small Vessel Stroke and Intracerebral Haemorrhage / Cullell, Natalia (Universitat de Barcelona. Departament de Medicina) ; Gallego-Fabrega, Cristina (Institut d'Investigació Biomèdica Sant Pau) ; Cárcel-Márquez, Jara (Universitat Autònoma de Barcelona. Departament de Medicina) ; Muiño, Elena (Institut d'Investigació Biomèdica Sant Pau) ; Llucià-Carol, Laia (Institut d'Investigació Biomèdica Sant Pau) ; Lledós, Miquel (Institut d'Investigació Biomèdica Sant Pau) ; Martín-Campos, Jesús Maria (Institut d'Investigació Biomèdica Sant Pau) ; Molina, Jessica (Mútua de Terrassa) ; Casas, Laura (Mútua de Terrassa) ; Almeria, Marta (Mútua de Terrassa) ; Fernández-Cadenas, Israel (Mútua de Terrassa) ; Krupinski, Jerzy (Mútua de Terrassa)
Small vessel strokes (SVS) and intracerebral haemorrhages (ICH) are acute outcomes of cerebral small vessel disease (SVD). Genetic studies combining both phenotypes have identified three loci associated with both traits. [...]
2022 - 10.3390/ijms23063161
International journal of molecular sciences, Vol. 23 (march 2022)  
2.
9 p, 990.5 KB International stroke genetics consortium recommendations for studies of genetics of stroke outcome and recovery / Lindgren, Arne G (Skåne University Hospital (Suècia)) ; Braun, Robynne G (Department of Neurology, University of Maryland) ; Juhl Majersik, Jennifer (Department of Neurology, University of Utah) ; Clatworthy, Philip (North Bristol NHS Trust) ; Mainali, Shraddha (The Ohio State University) ; Derdeyn, Colin P (University of Iowa) ; Maguire, Jane (University of Technology Sydney) ; Jern, Christina (Sahlgrenska University Hospital) ; Rosand, Jonathan (Massachusetts General Hospital) ; Cole, John W. (University of Maryland School of Medicine) ; Lee, Jin-Moo (Washington University School of Medicine, St. Louis) ; Khatri, Pooja (University of Cincinnati) ; Nyquist, Paul (Johns Hopkins School of Medicine, Baltimore) ; Debette, Stéphanie (Bordeaux University Hospital(França)) ; Keat Wei, Loo (Universiti Tunku Abdul Rahman, Perak) ; Rundek, Tatjana (Department of Neurology, , Miami) ; Leifer, Dana (Weill Cornell Medicine, New York) ; Thijs, Vincent (Florey Institute of Neuroscience and Mental Health, Melbourne) ; Lemmens, Robin (University Hospitals Leuven (Bèlgica)) ; Heitsch, Laura (Washington University School of Medicine) ; Prasad, Kameshwar (Rajendra Institute of Medical Sciences) ; Jimenez-Conde, Jordi (Hospital del Mar (Barcelona, Catalunya)) ; Dichgans, Martin (Institute for Stroke and Dementia Research (Munic, Alemanya)) ; Rost, Natalia S (Massachusetts General Hospital) ; Cramer, Steven C (California Rehabilitation Institute) ; Bernhardt, Julie (Florey Institute of Neuroscience and Mental Health (Melbourne, Austràlia)) ; Worrall, Bradford B (University of Virginia) ; Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Numerous biological mechanisms contribute to outcome after stroke, including brain injury, inflammation, and repair mechanisms. Clinical genetic studies have the potential to discover biological mechanisms affecting stroke recovery in humans and identify intervention targets. [...]
2021 - 10.1177/17474930211007288
International Journal of Stroke, Vol. 17 (april 2021) , p. 260-268  
3.
26 p, 1.4 MB The copy number variation and stroke (CaNVAS) risk and outcome study / Cole, John W. (University of Maryland School of Medicine) ; Adigun, Taiwo (University of Ibadan) ; Akinyemi, Rufus (University of Ibadan) ; Akpa, Onoja Matthew (University of Ibadan) ; Bell, Steven (Unversity of Cambridge) ; Chen, Bowang (National Center for Cardiovascular Diseases, Beijing) ; Jimenez-Conde, Jordi (Institut Hospital del Mar d'Investigacions Mèdiques) ; Lazcano, Uxue (Institut Hospital del Mar d'Investigacions Mèdiques) ; Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ; Fornage, Myriam (University of Texas Health Science at Houston) ; Gallego-Fabrega, Cristina (Institut d'Investigació Biomèdica Sant Pau) ; Jern, Christina (University of Gothenburg) ; Krawczak, Michael (University of Kiel) ; Lindgren, Arne (Neurology, Lund University) ; Markus, Hugh S. (Unversity of Cambridge) ; Melander, Olle (Neurology, Lund University) ; Owolabi, Mayowa (University of Ibadan) ; Schlicht, Kristina (University of Kiel) ; Söderholm, Martin (Skåne University Hospital (Suècia)) ; Srinivasasainagendra, Vinodh (University of Alabama at Birmingham) ; Soriano Tárraga, Carolina (Institut Hospital del Mar d'Investigacions Mèdiques) ; Stenman, Martin (Lund University) ; Tiwari, Hemant (University of Alabama at Birmingham) ; Corasaniti, Margaret (University of Maryland School of Medicine) ; Fecteau, Natalie (University of Maryland School of Medicine) ; Guizzardi, Beth (University of Maryland School of Medicine) ; Lopez, Haley (University of Maryland School of Medicine) ; Nguyen, Kevin (University of Maryland School of Medicine) ; Gaynor, Brady (University of Maryland School of Medicine) ; O'Connor, Timothy (University of Maryland School of Medicine) ; Stine, O. Colin (University of Maryland School of Medicine) ; Kittner, Steven J. (University of Maryland School of Medicine) ; McArdle, Patrick (University of Maryland School of Medicine) ; Mitchell, Braxton D. (University of Maryland School of Medicine) ; Xu, Huichun (University of Maryland School of Medicine) ; Grond-Ginsbach, Caspar (Heidelberg University) ; Universitat Autònoma de Barcelona
The role of copy number variation (CNV) variation in stroke susceptibility and outcome has yet to be explored. The Copy Number Variation and Stroke (CaNVAS) Risk and Outcome study addresses this knowledge gap. [...]
2021 - 10.1371/journal.pone.0248791
PloS one, Vol. 16 (april 2021)  
4.
12 p, 1.2 MB Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment / Muiño, Elena (Institut d'Investigació Biomèdica Sant Pau) ; Maisterra, 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 (Nature Publishing Group), Vol. 11 (march 2021)  
5.
40 p, 490.3 KB Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality / Nakanishi, Tomoko (Japan Society for the Promotion of Science, Tokyo) ; Pigazzini, Sara (University of Milano-Bicocca, Milano) ; Degenhardt, Frauke (University Hospital Schleswig-Holstein) ; Cordioli, Mattia (Univerisity of Helsinki) ; Butler-Laporte, Guillaume (McGill University, Montréal, Québec) ; Maya-Miles, Douglas (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Nafría-Jiménez, Beatriz (Osakidetza-Servicio Vasco de Salud, Donostia) ; Bouysran, Youssef (Université Libre de Bruxelles) ; Niemi, Mari (Univerisity of Helsinki) ; Palom, Adriana (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ellinghaus, David (University of Copenhagen) ; Khan, Atlas (Columbia University, New York) ; Martínez-Bueno, Manuel (Universidad de Granada) ; Rolker, Selina (University Hospital Bonn (Bonn, Alemanya)) ; Amitano, Sara (Azienda Ospedaliero-Universitaria Senese) ; Roade, Luisa (Universitat Autònoma de Barcelona. Departament de Medicina) ; Fava, Francesca (University of Siena, Italy) ; Spinner, Christoph D. (Technical University of Munich) ; Prati, Daniele (Università degli Studi di Milano) ; Bernardo, David (Universidad de Valladolid) ; Garcia, Federico (Instituto de Investigación Sanitaria de Granada) ; Darcis, Gilles (Liege University Hospital) ; Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ; Holter, Jan Cato (Institute of Clinical Medicine, University of Oslo, Oslo, Norway) ; Banales, Jesus (Universidad del País Vasco) ; Frithiof, Robert (Uppsala University, Sweden) ; Kiryluk, Krzysztof (Columbia University, New York) ; Duga, Stefano (IRCCS Humanitas Research Hospital, Milan) ; Asselta, Rosanna (IRCCS Humanitas Research Hospital, Milan) ; Pereira, Alexandre C (Universidade de São Paulo) ; Romero-Gómez, Manuel (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Bujanda, Luis (Universidad del País Vasco) ; Hov, Johannes R. (Oslo University Hospital (Oslo, Noruega)) ; Migeotte, Isabelle (Fonds de la Recherche Scientifique (FNRS), Brussels) ; Renieri, Alessandra (University of Siena, Italy) ; Planas, Anna M. (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Ludwig, Kerstin U. (University Hospital Bonn (Bonn, Alemanya)) ; Buti, Maria (Universitat Autònoma de Barcelona. Departament de Medicina) ; Rahmouni, Souad (University of Liege) ; Alarcón-Riquelme, Marta E. (Karolinska Institutet, Solna, Sweden) ; Schulte, Eva C. (LMU Munich University, Munich) ; Franke, Andre (University Hospital Schleswig-Holstein, Kiel) ; Karlsen, Tom H (Oslo University Hospital (Oslo, Noruega)) ; Valenti, Luca (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Zeberg, Hugo (Max-Planck Institute for Evolutionary Anthropology, Leipzig, Germany) ; Richards, J. Brent (King's College London, London) ; Ganna, Andrea (Massachusetts General Hospital)
There is considerable variability in COVID-19 outcomes amongst younger adults-and some of this variation may be due to genetic predisposition. We characterized the clinical implications of the major genetic risk factor for COVID-19 severity, and its age-dependent effect, using individual-level data in a large international multi-centre consortium. [...]
2021 - 10.1101/2021.03.07.21252875
medRxiv, march 2021  
6.
11 p, 1.9 MB Genetic basis of lacunar stroke : a pooled analysis of individual patient data and genome-wide association studies / Traylor, Matthew (Clinical Pharmacology and The Barts Heart Centre and NIHR Barts Biomedical Research Centre, Barts Health NHS Trust, William Harvey Research Institute, Queen Mary University of London, London, UK) ; Persyn, Elodie (King's College London) ; Tomppo, Liisa (Helsinki University Hospital) ; Klasson, Sofia (Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden) ; Abedi, Vida (Department of Molecular and Functional Genomics, Weis Center for Research, Geisinger Health System, Danville, PA, USA) ; Bakker, Mark K (Department of Neurology and Neurosurgery, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands) ; Torres, Nuria (Institut d'Investigació Biomèdica Sant Pau) ; Li, Linxin (Centre for the Prevention of Stroke and Dementia, Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford, UK) ; Bell, Steven (Clinical Neurosciences, University of Cambridge, Cambridge, UK) ; Rutten-Jacobs, Loes (Product Development Personalized Health Care, F Hoffmann-La Roche, Basel, Switzerland) ; Tozer, Daniel J (Clinical Neurosciences, University of Cambridge, Cambridge, UK) ; Griessenauer, Christoph J (Institute of Neurointervention, Paracelsus Medical University, Salzburg, Austria) ; Zhang, Yanfei (Genomic Medicine Institute, Geisinger Health System, Danville, PA, USA) ; Pedersen, Annie (Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden) ; Sharma, Pankaj (Institute of Cardiovascular Research, Royal Holloway University of London, London, UK) ; Jimenez-Conde, Jordi (Institut Hospital del Mar d'Investigacions Mèdiques) ; Rundek, Tatjana (Evelyn F McKnight Brain Institute, Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA) ; Grewal, Raji P (Neuroscience Institute, Saint Francis Medical Center, School of Health and Medical Sciences, Seton Hall University, South Orange, NJ, USA) ; Lindgren, Arne (Department of Clinical Sciences Lund, Neurology, Lund University, Lund, Sweden) ; Meschia, James F (Department of Neurology, Mayo Clinic, Jacksonville, FL, USA) ; Salomaa, Veikko (Finnish Institute for Health and Welfare (Helsinki, Finlàndia)) ; Havulinna, Aki (Institute for Molecular Medicine Finland (FIMM HiLIFE), Helsinki, Finland) ; Kourkoulis, Christina (Program in Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA) ; Crawford, Katherine (Program in Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA) ; Marini, Sandro (Program in Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA) ; Mitchell, Braxton D (Geriatrics Research and Education Clinical Center, Baltimore Veterans Administration Medical Center, Baltimore, MD, USA) ; Kittner, Steven J (Geriatrics Research and Education Clinical Center, Baltimore Veterans Administration Medical Center, Baltimore, MD, USA) ; Rosand, Jonathan (Program in Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA) ; Dichgans, Martin (Munich Cluster for Systems Neurology (SyNergy), Munich, Germany) ; Jern, Christina (Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden) ; Strbian, Daniel (Helsinki University Hospital) ; Fernandez Cadenas, Israel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Zand, Ramin (Neuroscience Institute, Geisinger Health System, Danville, PA, USA) ; Ruigrok, Ynte (Department of Neurology and Neurosurgery, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands) ; Rost, Natalia (Massachusetts General Hospital) ; Lemmens, Robin (University Hospitals Leuven (Bèlgica)) ; Rothwell, Peter M (Centre for the Prevention of Stroke and Dementia, Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford, UK) ; Anderson, Christopher D (Program in Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA) ; Wardlaw, Joanna (Centre for Clinical Brain Sciences, UK Dementia Research Institute and Row Fogo Centre for Research into the Ageing Brain, University of Edinburgh, Edinburgh, UK) ; Lewis, Cathryn M (Social, Genetic, and Developmental Psychiatry Centre, King's College London, London, UK) ; Markus, Hugh S (Clinical Neurosciences, University of Cambridge, Cambridge, UK) ; Universitat Autònoma de Barcelona
The genetic basis of lacunar stroke is poorly understood, with a single locus on 16q24 identified to date. We sought to identify novel associations and provide mechanistic insights into the disease. [...]
2021 - 10.1016/S1474-4422(21)00031-4
The Lancet neurology, Vol. 20 (may 2021) , p. 351-361  
7.
21 p, 2.1 MB Pharmacogenetic studies with oral anticoagulants. Genome-wide association studies in vitamin K antagonist and direct oral anticoagulants / Cullell, Natalia (Fundació per la Recerca Biomèdica i Social Mútua de Terrassa) ; Carrera, Caty (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Muiño, Elena (Fundació per la Recerca Biomèdica i Social Mútua de Terrassa) ; Torres, Nuria (Fundació per la Recerca Biomèdica i Social Mútua de Terrassa) ; Krupinski, Jerzy (School of Healthcare Science, Manchester Metropolitan University, Manchester, United Kingdom) ; Fernandez Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Oral anticoagulants (OAs) are the recommended drugs to prevent cardiovascular events and recurrence in patients with atrial fibrillation (AF) and cardioembolic stroke. We conducted a literature search to review the current state of OAs pharmacogenomics, focusing on Genome Wide Association Studies (GWAs) in patients treated with vitamin K antagonists (VKAs) and direct oral anticoagulants (DOACs). [...]
2018 - 10.18632/oncotarget.25579
Oncotarget, Vol. 9 (june 2018) , p. 29238-29258  
8.
8 p, 1.6 MB DNA methylation of MMPs and TIMPs in atherothrombosis process in carotid plaques and blood tissues / Gallego-Fabrega, Cristina (Institut d'Investigació Biomèdica Sant Pau) ; Cullell, Natalia (Institut d'Investigació Biomèdica Sant Pau) ; Soriano-Tárraga, Carolina (Institut Hospital del Mar d'Investigacions Mèdiques) ; Carrera, Caty (Institut d'Investigació Biomèdica Sant Pau) ; Torres-Aguila, Nuria P. (Institut d'Investigació Biomèdica Sant Pau) ; Muiño, Elena (Institut d'Investigació Biomèdica Sant Pau) ; Cárcel-Márquez, Jara (Institut d'Investigació Biomèdica Sant Pau) ; de Moura, Manuel Castro (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Fernández-Sanlés, Alba (Institut Hospital del Mar d'Investigacions Mèdiques) ; Esteller, M (Institució Catalana de Recerca i Estudis Avançats) ; Elosua, Roberto (Institut Hospital del Mar d'Investigacions Mèdiques) ; Jiménez-Conde, Jordi (Institut Hospital del Mar d'Investigacions Mèdiques) ; Roquer, Jaume (Institut Hospital del Mar d'Investigacions Mèdiques) ; Montaner, Joan (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Krupinski, Jerzy ; Fernandez Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Background and Purpose: Polymorphisms and serum levels of Matrix Metalloproteinases (MMP) and Tissue Inhibitor of Metalloproteinases (TIMP) have been studied with regard to atheromatous plaques and ischemic stroke, while no studies of DNA methylation (DNAm) patterns of MMP or TIMP have been performed to that end. [...]
2020 - 10.18632/oncotarget.27469
Oncotarget, Vol. 11 (march 2020) , p. 905-912  
9.
14 p, 236.7 KB Clinical Variables and Genetic Risk Factors Associated with the Acute Outcome of Ischemic Stroke : A Systematic Review / Torres-Aguila, Nuria P (Institut d'Investigació Biomèdica Sant Pau) ; Carrera, Caty (Institut d'Investigació Biomèdica Sant Pau) ; Muiño, Elena (Institut d'Investigació Biomèdica Sant Pau) ; Cullell, Natalia (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Cárcel-Márquez, Jara (Institut d'Investigació Biomèdica Sant Pau) ; Gallego-Fabrega, Cristina (Institut d'Investigació Biomèdica Sant Pau) ; González-Sánchez, Jonathan (Institut d'Investigació Biomèdica Sant Pau) ; Bustamante, Alejandro (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Delgado Martínez, María Pilar (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ibañez, Laura (Department of Psychiatry, Washington University School of Medicine, St. Louis, MO) ; Heitsch, Laura (Department of Neurology, Washington University School of Medicine, St. Louis, MO) ; Krupinski, Jerzy (Health Care Science Department, The Manchester Metropolitan University of All Saints, Manchester) ; Montaner, Joan (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Martí-Fàbregas, Joan (Institut d'Investigació Biomèdica Sant Pau) ; Cruchaga, Carlos (Department of Psychiatry, Washington University School of Medicine, St. Louis, MO) ; Lee, Jin-Moo (Department of Neurology, Washington University School of Medicine, St. Louis, MO) ; Fernandez Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Stroke is a complex disease and one of the main causes of morbidity and mortality among the adult population. A huge variety of factors is known to influence patient outcome, including demographic variables, comorbidities or genetics. [...]
2019 - 10.5853/jos.2019.01522
Journal of Stroke, Vol. 21 (september 2019) , p. 276-289  
10.
13 p, 1.4 MB Genome-wide association meta-analysis of functional outcome after ischemic stroke / Söderholm, M. (Skåne University Hospital (Suècia)) ; Pedersen, A. (Department of Clinical Neuroscience. Institute of Neuroscience and Physiology. Sahlgrenska Academy. University of Gothenburg) ; Lorentzen, E. (Sahlgrenska University Hospital (Suècia)) ; Stanne, T.M. (Institute of Biomedicine) ; Bevan, S. (Bioinformatics Core Facility. University of Gothenburg) ; Olsson, M. (Institute of Biomedicine) ; Cole, John W ; Fernandez Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ; Hankey, G.J. (Medical School. The University of Western Australia, Perth; Department of Neurology) ; Jimenez-Conde, J. (Institut Hospital del Mar d'Investigacions Mèdiques) ; Jood, K. (Department of Clinical Genetics and Genomics) ; Lee, J.M. (Department of Neurology. Washington University School of Medicine, St. Louis, MO) ; Lemmens, R. (Department of Neurosciences. Experimental Neurology. KU Leuven. University of Leuven) ; Levi, C. (School of Medicine and Public Health) ; Mitchell, B.D. (Priority Research Centre for Stroke and Traumatic Brain Injury. University of Newcastle) ; Norrving, B. (Skåne University Hospital (Suècia)) ; Rannikmäe, K. (Department of Medicine. University of Maryland) ; Rost, N.S. (Geriatric Research. Education. and Clinical Center. Veterans Affairs Medical Center) ; Rosand, J. (Massachusetts General Hospital) ; Rothwell, P.M. (Broad Institute of MIT and Harvard) ; Scott, R. (Departments of Neurology and Health Evaluation Sciences. University of Virginia) ; Strbian, D. (Massachusetts General Hospital) ; Sturm, J.W. (Center for Brain and Disease Research. Laboratory of Neurobiology. VIB) ; Sudlow, C. (Department of Medicine. University of Maryland) ; Traylor, M. (Stroke Prevention Research Unit. Nuffield Department of Clinical Neurosciences. University of Oxford) ; Thijs, V. (Department of ClinicalNeurosciences. University of Cambridge) ; Tatlisumak, T. (Stroke Division. Florey Institute for Neuroscience and Mental Health. University of Melbourne) ; Woo, D. (Department of Neurology. Austin Health) ; Worrall, B.B. (Department of Neurology and Rehabilitation. University of Cincinnati. College of Medicine) ; Maguire, J.M. (HunterMedical Research Centre. PRC Stroke and Brain Injury) ; Lindgren, A. (Skåne University Hospital (Suècia)) ; Jern, C. (School of Life Sciences. University of Lincoln) ; Universitat Autònoma de Barcelona
ObjectiveTo discover common genetic variants associated with poststroke outcomes using a genome-wide association (GWA) study. MethodsThe study comprised 6,165 patients with ischemic stroke from 12 studies in Europe, the United States, and Australia included in the GISCOME (Genetics of Ischaemic Stroke Functional Outcome) network. [...]
2019 - 10.1212/WNL.0000000000007138
Neurology, Vol. 92 Núm. 12 (19 2019) , p. E1271-E1283  

Articles : 22 registres trobats   1 - 10següentfinal  anar al registre:
Documents de recerca 4 registres trobats  
1.
184 p, 4.5 MB Análisis de la etiopatogenia del cadasil mediante estudios transcriptómicos y estimación del pronóstico tras el ictus isquémico en el cadasil / Muiño Acuña, Elena ; Fernandez Cadenas, Israel, dir. ; Roquer González, Jaume, dir. ; Montaner Villalonga, Joan, dir. ; Universitat Autònoma de Barcelona. Departament de Medicina
El CADASIL és una arteriopatia sistèmica causada per mutacions en NOTCH3, que afecten el nombre de cisteïnes del domini extracel·lular del receptor, alterant els ponts disulfur i propiciant un mal plegament d'aquest, i la seva agregació juntament amb la d'altres proteïnes; mecanisme que actualment es considera responsable de la malaltia. [...]
El CADASIL es una arteriopatía sistémica causada por mutaciones en NOTCH3, que afectan al número de cisteínas del dominio extracelular del receptor, alterando los puentes disulfuro y propiciando un mal plegamiento de este, y su agregación junto con la de otras proteínas; mecanismo que actualmente se considera responsable de la enfermedad. [...]
CADASIL is a systemic artery disease caused by mutations in NOTCH3, which affect the number of cysteines in the extracellular domain of the receptor, altering the disulfide bridges and causing a missfolding of the receptor, and its aggregation along with other proteins; a mechanism currently considered responsible for the disease. [...]

2020  
2.
366 p, 5.6 MB Genètica aplicada a la clínica neurovascular / Río Espínola, Alberto del ; Fernandez Cadenas, Israel, dir. ; Montaner, Joan, dir. ; Álvarez Sabín, J., (José) dir. ; Universitat Autònoma de Barcelona. Departament de Medicina
En aquesta tesi doctoral es descriuen els resultats de l'estudi farmacogenètic Geno-tPA, en el qual es va analitzar el paper de centenars de polimorfismes (SNPs) en la resposta al tractament trombolític de l'ictus isquèmic: recanalització arterial una hora després de la infusió, reoclusión arterial després d'haver recanalitzar, aparició de transformació hemorràgica iatrogènica i mortalitat intrahospitalària. [...]
This thesis describes the results of the Geno-tPA pharmacogenetic study, which analyzed the role of hundreds of polymorphisms (SNPs) in the response to thrombolytic treatmentof ischemic stroke: recanalization one hour after t-PA infusion, arterial reocclusion of the recanalized artery, presence of iatrogenic hemorrhagic transformation and in-hospital mortality. [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2011  
3.
242 p, 3.2 MB Utilidad de los biomarcadores plasmáticos en el diagnóstico, tratamiento y pronóstico de la enfermedad cerebrovascular aguda / Mendioroz Iriarte, M. Teresa ; Montaner, Joan, dir. ; Alvárez Sabín, J., (José) dir. ; Fernandez Cadenas, Israel, dir. ; Universitat Autònoma de Barcelona. Departament de Medicina
[Barcelona] : Universitat Autònoma de Barcelona, 2010  
4.
207 p, 5.4 MB Identificación y uso de biomarcadores pronósticos en el ictus isquémico / García-Berrocoso, Teresa ; Montaner, Joan, dir. ; Fernandez Cadenas, Israel, dir. ; Delgado Martínez, Pilar, dir. ; García-Dorado, David ; Universitat Autònoma de Barcelona. Departament d'Antropologia Social i Cultural
El ictus es una enfermedad con una elevada morbimortalidad, suponiendo la segunda causa de muerte a nivel mundial y una de las principales causas de discapacidad en el adulto. Aun así, la heterogeneidad entre los pacientes con ictus dificulta anticipar el pronóstico de la enfermedad. [...]
Stroke is a severe disease, being the second cause of death worldwide and one of the main causes of disability. Heterogeneity among stroke patients makes difficult to anticipate the prognosis of the disease. [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2014  

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