Resultados globales: 5 registros encontrados en 0.02 segundos.
Artículos, Encontrados 5 registros
Artículos Encontrados 5 registros  
1.
15 p, 570.6 KB C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts / Costa, Beatrice ; Manzoni, Claudia ; Bernal-Quiros, Manuel ; Kia, Demis A. ; Aguilar, Miquel ; Alvarez, Ignacio ; Alvarez, Victoria ; Andreassen, Ole ; Anfossi, Maria ; Bagnoli, Silvia ; Benussi, Luisa ; Bernardi, Livia ; Binetti, Giuliano ; Blackburn, Daniel ; Boada, Mercè ; Borroni, Barbara ; Bowns, Lucy ; Bråthen, Geir ; Bruni, Amalia C. ; Chiang, Huei-Hsin ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Colville, Shuna ; Conidi, Maria E. ; Cope, Tom E. ; Cruchaga, Carlos ; Cupidi, Chiara ; Di Battista, Maria Elena ; Diehl-Schmid, Janine ; Diez-Fairen, Monica ; Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Durante, Elisabetta ; Flisar, Dušan ; Frangipane, Francesca ; Galimberti, Daniela ; Gallo, Maura ; Gallucci, Maurizio ; Ghidoni, Roberta ; Graff, Caroline ; Grafman, Jordan H. ; Grossman, Murray ; Hardy, John ; Hernández, Isabel ; Holloway, Guy J.T. ; Huey, Edward D. ; Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ; Karydas, Anna ; Khoshnood, Behzad ; Kramberger, Milica G. ; Kristiansen, Mark ; Lewis, Patrick A. ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Madhan, Gaganjit K. ; Maletta, Raffaele ; Maver, Aleš ; Menendez-Gonzalez, Manuel ; Milan, Graziella ; Miller, Bruce ; Mol, Merel O. ; Momeni, Parastoo ; Moreno-Grau, Sonia ; Morris, Chris M. ; Nacmias, Benedetta ; Nilsson, Christer ; Novelli, Valeria ; Öijerstedt, Linn ; Padovani, Alessandro ; Pal, Suvankar ; Panchbhaya, Yasmin ; Pastor, Pau ; Peterlin, Borut ; Piaceri, Irene ; Pickering-Brown, Stuart ; Pijnenburg, Yolande A.L. ; Puca, Annibale A. ; Rainero, Innocenzo ; Rendina, Antonella ; Richardson, Anna M.T. ; Rogaeva, Ekaterina ; Rogelj, Boris ; Rollinson, Sara ; Rossi, Giacomina ; Rossmeier, Carola ; Rowe, James B. ; Rubino, Elisa ; Ruiz, Agustín ; Sanchez-Valle, Raquel ; Sando, Sigrid B. ; Santillo, Alexander F. ; Saxon, Jennifer ; Scarpini, Elio ; Serpente, Maria ; Smirne, Nicoletta ; Sorbi, Sandro ; Suh, EunRan ; Tagliavini, Fabrizio ; Thompson, Jennifer C. ; Trojanowski, John Q. ; Van Deerlin, Vivianna M. ; Van der Zee, Julie ; Van Broeckhoven, Christine ; van Rooij, Jeroen ; Van Swieten, John C. ; Veronesi, Arianna ; Vitale, Emilia ; Waldö, Maria L. ; Woodward, Cathy ; Yokoyama, Jennifer ; Escott-Price, Valentina ; Polke, James M. ; Ferrari, Raffaele ; Universitat Autònoma de Barcelona
We sought to characterize C9orf72 expansions in relation to genetic ancestry and age at onset (AAO) and to use these measures to discriminate the behavioral from the language variant syndrome in a large pan-European cohort of frontotemporal lobar degeneration (FTLD) cases. [...]
2020 - 10.1212/WNL.0000000000010914
Neurology, Vol. 95 (december 2020) , p. e3288-e3302  
2.
12 p, 2.7 MB Long runs of homozygosity are associated with Alzheimer's disease / Moreno-Grau, Sonia (Instituto de Salud Carlos III. Centro de Investigación en Red, Enfermedades Neurodegenerativas, CiberNed) ; Fernández, Maria Victoria (Washington University School of Medicine. Hope Center for Neurological Disorders) ; de Rojas, Itziar (Instituto de Salud Carlos III. Centro de Investigación en Red, Enfermedades Neurodegenerativas, CiberNed) ; Garcia-González, Pablo (Institut Català de Neurociènces Aplicades) ; Hernández, Isabel (Institut Català de Neurociènces Aplicades) ; Farias, Fabiana (Washington University School of Medicine. Hope Center for Neurological Disorders) ; Budde, John P. (Washington University School of Medicine. Hope Center for Neurological Disorders) ; Quintela, Inés (Universidade de Santiago de Compostela. Grupo de Medicina Xenómica) ; Madrid, Laura (Centro Andaluz de Estudios Bioinformáticos-CAEBI) ; González-Pérez, Antonio (Centro Andaluz de Estudios Bioinformáticos-CAEBI) ; Montrreal, Laura (Institut Català de Neurociènces Aplicades) ; Alarcón-Martín, Emilio (Institut Català de Neurociènces Aplicades) ; Alegret, Montserrat (Institut Català de Neurociènces Aplicades) ; Maroñas, Olalla (Universidade de Santiago de Compostela. Grupo de Medicina Xenómica) ; Pineda, Juan Antonio (Hospital Universitario de Valme. Unidad Clínica de Enfermedades Infecciosas y Microbiología) ; Macías, Juan (Hospital Universitario de Valme. Unidad Clínica de Enfermedades Infecciosas y Microbiología) ; Marquié, Marta (Instituto de Salud Carlos III. Centro de Investigación en Red, Enfermedades Neurodegenerativas, CiberNed) ; Valero, Sergi (Instituto de Salud Carlos III. Centro de Investigación en Red, Enfermedades Neurodegenerativas, CiberNed) ; Benaque, Alba (Institut Català de Neurociènces Aplicades) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Bullido, Maria Jesus (Instituto de Investigación Hospital Universitario La Paz) ; García-Ribas, Guillermo (Hospital Universitario Ramón y Cajal (Madrid)) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Sánchez-Juan, Pascual (Universidad de Cantabria) ; Álvarez, Victoria (Instituto de Investigación Biosanitaria del Principado de Asturias-ISPA (Oviedo)) ; Piñol-Ripoll, Gerard (Institut de Recerca Biomèdica de Lleida) ; García-Alberca, Jose María (Instituto Andaluz de Neurociencia) ; Royo, José Luis (Universidad de Málaga. Facultad de Medicina) ; Franco-Macías, Emilio (Instituto de Biomedicina de Sevilla (IBiS)) ; Mir, Pablo (Instituto de Biomedicina de Sevilla (IBiS)) ; Calero, Miguel (Instituto de Salud Carlos III) ; Medina, Miguel (Queen Sofia Foundation Alzheimer Center) ; Rábano, Alberto (BT-CIEN (Madrid)) ; Ávila, Jesús (Centro de Biología Molecular "Severo Ochoa" (CBMSO)) ; Antúnez, Carmen (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ; Real, Luis Miguel (Universidad de Málaga. Facultad de Medicina) ; Orellana, Adelina (Institut Català de Neurociènces Aplicades) ; Carracedo, Ángel (Fundación Pública Galega de Medicina Xenómica) ; Sáez, María Eugenia (Centro Andaluz de Estudios Bioinformáticos-CAEBI) ; Tárraga, Lluís (Instituto de Salud Carlos III. Centro de Investigación en Red, Enfermedades Neurodegenerativas, CiberNed) ; Boada, Mercè (Instituto de Salud Carlos III. Centro de Investigación en Red, Enfermedades Neurodegenerativas, CiberNed) ; Cruchaga, Carlos (Washington University School of Medicine. Hope Center for Neurological Disorders) ; Ruiz, Agustín (Instituto de Salud Carlos III. Centro de Investigación en Red, Enfermedades Neurodegenerativas, CiberNed) ; Universitat Autònoma de Barcelona
Long runs of homozygosity (ROH) are contiguous stretches of homozygous genotypes, which are a footprint of inbreeding and recessive inheritance. The presence of recessive loci is suggested for Alzheimer's disease (AD); however, their search has been poorly assessed to date. [...]
2021 - 10.1038/s41398-020-01145-1
Translational psychiatry, Vol. 11 (february 2021)  
3.
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) ; 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  
4.
14 p, 1.2 MB Early increase of CSF sTREM2 in Alzheimer's disease is associated with tau related-neurodegeneration but not with amyloid-β pathology / Suárez Calvet, Marc (Ludwig Maximilians Universität München) ; Morenas Rodríguez, Estrella (Institut d'Investigació Biomèdica Sant Pau) ; Kleinberger, Gernot (Ludwig Maximilians Universität München) ; Schlepckow, Kai (German Center for Neurodegenerative Diseases (DZNE) Munich) ; Araque Caballero, Miguel Ángel (Ludwig Maximilians Universität München) ; Franzmeier, Nicolai (Ludwig Maximilians Universität München) ; Capell, Anja (Ludwig Maximilians Universität München) ; Fellerer, Katrin (Ludwig Maximilians Universität München) ; Nuscher, Brigitte (Ludwig Maximilians Universität München) ; Eren, Erden (Ludwig Maximilians Universität München) ; Levin, Johannes (German Center for Neurodegenerative Diseases (DZNE) Munich) ; Deming, Yuetiva (Washington University School of Medicine) ; Piccio, Laura (Washington University School of Medicine) ; Karch, Celeste M. (Washington University School of Medicine) ; Cruchaga, Carlos (Washington University School of Medicine) ; Shaw, Leslie M. (University of Pennsylvania) ; Trojanowski, John Q. (University of Pennsylvania) ; Weiner, Michael (University of California at San Francisco) ; Ewers, Michael (Ludwig Maximilians Universität München) ; Haass, Christian (Ludwig Maximilians Universität München) ; Universitat Autònoma de Barcelona
TREM2 is a transmembrane receptor that is predominantly expressed by microglia in the central nervous system. Rare variants in the TREM2 gene increase the risk for late-onset Alzheimer's disease (AD). [...]
2019 - 10.1186/s13024-018-0301-5
Molecular neurodegeneration, Vol. 14 (january 2019)  
5.
21 p, 965.2 KB CSF progranulin increases in the course of Alzheimer's disease and is associated with sTREM2, neurodegeneration and cognitive decline / Suárez-Calvet, Marc (Ludwig Maximilians Universität München) ; Capell, Anja (Ludwig Maximilians Universität München) ; Araque Caballero, Miguel Ángel (Ludwig Maximilians Universität München) ; Morenas-Rodríguez, Estrella (Universitat Autònoma de Barcelona) ; Fellerer, Katrin (Ludwig Maximilians Universität München) ; Franzmeier, Nicolai (Ludwig Maximilians Universität München) ; Kleinberger, Gernot (Munich Cluster for Systems Neurology (SyNergy)) ; Eren, Erden (Dokuz Eylul University, Turkey) ; Deming, Yuetiva (Washington University School of Medicine) ; Piccio, Laura (Washington University School of Medicine) ; Karch, Celeste M (Washington University School of Medicine) ; Cruchaga, Carlos (Washington University School of Medicine) ; Paumier, Katrina (Washington University School of Medicine) ; Bateman, Randall J (Washington University School of Medicine) ; Fagan, Anne M (Washington University School of Medicine) ; Morris, John C (Washington University School of Medicine) ; Levin, Johannes (Ludwig Maximilians Universität München) ; Danek, Adrian (Ludwig Maximilians Universität München) ; Jucker, Mathias (University of Tübingen) ; Masters, Colin L (University of Melbourne) ; Rossor, Martin N (UCL Institute of Neurology) ; Ringman, John M (University of Southern California) ; Shaw, Leslie M (University of Pennsylvania) ; Trojanowski, John Q (University of Pennsylvania) ; Weiner, Michael (University of California at San Francisco) ; Ewers, Michael (Ludwig Maximilians Universität München) ; Haass, Christian (Munich Cluster for Systems Neurology (SyNergy))
Progranulin (PGRN) is predominantly expressed by microglia in the brain, and genetic and experimental evidence suggests a critical role in Alzheimer's disease (AD). We asked whether expression is changed in a disease severity-specific manner in . [...]
2018 - 10.15252/emmm.201809712
EMBO Molecular Medicine, Vol. 10 (november 2018)  

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