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Articles, 13 registres trobats
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1.
18 p, 2.0 MB A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics / Nicolas, Gaël (Normandie University) ; Sévigny, Myriam (Laval University) ; Lecoquierre, François (Normandie University) ; Marguet, Florent (Normandie University) ; Deschênes, Andréanne (Laval University) ; del Pelaez, Maria Carment (Laval University) ; Feuillette, Sébastien (Normandie University) ; Audebrand, Anaïs (Laval University) ; Lecourtois, Magalie (Normandie University) ; Rousseau, Stéphane (Normandie University) ; Richard, Anne-Claire (Normandie University) ; Cassinari, Kévin (Normandie University) ; Deramecourt, Vincent (University of Lille) ; Duyckaerts, Charles (Hôpital de la Pitié-Salpêtrière) ; Boland, Anne (Université Paris-Saclay) ; Deleuze, Jean-François (Université Paris-Saclay) ; Meyer, Vincent (Université Paris-Saclay) ; Clarimon Echavarria, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Gelpi, Ellen (Medical University of Vienna) ; Akiyama, Haruhiko (Tokyo Metropolitan Institute of Medical Science) ; Hasegawa, Masato (Tokyo Metropolitan Institute of Medical Science) ; Kawakami, Ito (Tokyo Metropolitan Institute of Medical Science) ; Wong, Tsz H. (Erasmus Medical Center) ; Van Rooij, Jeroen G. J. (Erasmus Medical Center) ; Van Swieten, John C. (Erasmus Medical Center) ; Campion, Dominique (Normandie University) ; Dutchak, Paul A. (Laval University) ; Wallon, David (Normandie University) ; Lavoie-Cardinal, Flavie (Laval University) ; Laquerrière, Annie (Normandie University) ; Rovelet-Lecrux, Anne (Normandie University) ; Sephton, Chantelle F. (Laval University) ; Universitat Autònoma de Barcelona
Frontotemporal dementia (FTD) is a heterogeneous clinical disorder characterized by progressive abnormalities in behavior, executive functions, personality, language and/or motricity. A neuropathological subtype of FTD, frontotem‑poral lobar degeneration (FTLD)-FET, is characterized by protein aggregates consisting of the RNA-binding protein fused in sarcoma (FUS). [...]
2022 - 10.1186/s40478-022-01314-x
Acta neuropathologica communications, Vol. 10 (february 2022)  
2.
16 p, 4.3 MB Common variants in Alzheimer's disease and risk stratification by polygenic risk scores / de Rojas, Itziar (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Moreno-Grau, Sonia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Tesi, Niccolo (Delft Univeristy of Technology) ; Grenier-Boley, Benjamin (Institut Pasteur de Lille) ; Andrade, Victor (University Clinic Bonn) ; Jansen, Iris E. (Vrije Universiteit Amsterdam) ; Pedersen, Nancy L. (Karolinska Institutet.) ; Stringa, Najada (Amsterdam UMC-Vrije Universiteit Amsterdam) ; Zettergren, Anna (University of Gothenburg) ; Hernández, Isabel (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Montrreal, Laura (Universitat Internacional de Catalunya) ; Antúnez, Carmen (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ; Antonell, Anna (Universitat de Barcelona) ; Tankard, Rick M. (Murdoch University) ; Bis, Joshua C. (University of Washington) ; Sims, Rebecca (Cardiff University) ; Bellenguez, Céline (Institut Pasteur de Lille) ; Quintela, Inés (Universidade de Santiago de Compostela) ; González-Perez, Antonio (Centro Andaluz de Estudios Bioinformáticos, Sevilla) ; Calero, Miguel (CIEN Foundation/Queen Sofia Foundation Alzheimer Center) ; Franco-Macías, Emilio (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Macías, Juan (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ; Cervera-Carles, Laura (Institut d'Investigació Biomèdica Sant Pau) ; Menéndez-González, Manuel (Universidad de Oviedo) ; Frank-García, Ana (Universidad Autónoma de Madrid) ; Royo, Jose Luís (Universidad de Málaga) ; Moreno, Fermin (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Huerto Vilas, Raquel (Institut de Recerca Biomedica de Lleida) ; Baquero, Miquel (Hospital Universitari i Politècnic La Fe de València) ; Diez-Fairen, Monica (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Lage, Carmen (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; García-Madrona, Sebastián (Hospital Universitario Ramón y Cajal (Madrid)) ; García-González, Pablo (Universitat Internacional de Catalunya) ; Alarcón-Martín, Emilio (Universidad de Málaga) ; Valero, Sergi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Sotolongo-Grau, Oscar (Universitat Internacional de Catalunya) ; Ullgren, Abbe (Karolinska University Hospital-Solna) ; Naj, Adam C. (University of Pennsylvania) ; Lemstra, Afina W. (Vrije Universiteit Amsterdam) ; Benaque, Alba (Universitat Internacional de Catalunya) ; Pérez-Cordón, Alba (Universitat Internacional de Catalunya) ; Benussi, Alberto (University of Brescia) ; Rábano, Alberto (BT-CIEN, Madrid, Spain) ; Padovani, Alessandro (University of Brescia) ; Squassina, Alessio (University of Cagliari) ; de Mendonça, Alexandre (University of Lisbon) ; Arias Pastor, Alfonso (Institut de Recerca Biomedica de Lleida) ; Kok, Almar A. L. (Vrije Universiteit Amsterdam) ; Meggy, Alun (Cardiff University) ; Pastor, Ana Belén (BT-CIEN, Madrid, Spain) ; Espinosa, Ana (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Corma-Gómez, Anaïs (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; Martín Montes, Angel (Hospital Universitario La Paz (Madrid)) ; Sanabria, Ángela (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; DeStefano, Anita L. (Boston University) ; Schneider, Anja (German Center for Neurodegenerative Diseases (DZNE)) ; Haapasalo, Annakaisa (University of Eastern Finland) ; Kinhult Ståhlbom, Anne (Karolinska University Hospital-Solna) ; Tybjærg-Hansen, Anne (University of Copenhagen) ; Hartmann, Annette M. (Martin-Luther-University Halle-Wittenberg) ; Spottke, Annika (University of Bonn) ; Corbatón-Anchuelo, Arturo (CIBERDEM) ; Rongve, Arvid (University of Bergen) ; Borroni, Barbara (University of Brescia) ; Arosio, Beatrice (IRCCS Ospedale Maggiore Policlinico) ; Nacmias, Benedetta (IRCCS Fondazione Don Carlo Gnocchi) ; Nordestgaard, Børge G. (Herlev Gentofte Hospital) ; Kunkle, Brian W. (University of Miami) ; Charbonnier, Camille (Normandie Univ, UNIROUEN) ; Abdelnour, Carla (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Masullo, Carlo (Catholic University of the Sacred Heart) ; Martínez Rodríguez, Carmen (Hospital de Cabueñes) ; Muñoz-Fernandez, Carmen (Hospital Universitario de Gran Canaria Dr. Negrín) ; Dufouil, Carole (CHU de Bordeaux) ; Graff, Caroline (Karolinska University Hospital-Solna) ; Ferreira, Catarina B. (Universidade de Lisboa) ; Chillotti, Caterina (University Hospital of Cagliari) ; Reynolds, Chandra A. (University of California-Riverside) ; Fenoglio, Chiara (Dino Ferrari Center. University of Milan) ; Van Broeckhoven, Christine (University of Antwerp) ; Clark, Christopher (University of Zürich) ; Pisanu, Claudia (University of Cagliari) ; Satizabal, Claudia L. (UT Health San Antonio) ; Holmes, Clive (University of Southampton) ; Buiza-Rueda, Dolores (Universidad de Sevilla) ; Aarsland, Dag (Stavanger University Hospital) ; Rujescu, Dan (Martin-Luther-University Halle-Wittenberg) ; Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Galimberti, Daniela (Fondazione IRCCS Ca' Granda, Ospedale Policlinico) ; Wallon, David (Normandie Univ, UNIROUEN) ; Seripa, Davide (Fondazione IRCCS Casa Sollievo della Sofferenza) ; Grünblatt, Edna (University of Zurich) ; Dardiotis, Efthimios (University of Thessaly. School of Medicine) ; Düzel, Emrah (Otto-von-Guericke University) ; Scarpini, Elio (Fondazione IRCCS Ca' Granda, Ospedale Policlinico) ; Conti, Elisa (University of Milano-Bicocca) ; Rubino, Elisa (AOU Città della Salute e della Scienza di Torino) ; Gelpi, Ellen (Medical University of Vienna) ; Rodriguez-Rodriguez, Eloy (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Duron, Emmanuelle (APHP, Hôpital Broca) ; Boerwinkle, Eric (Baylor College of Medicine) ; Ferri, Evelyn (IRCCS Ospedale Maggiore Policlinico) ; Tagliavini, Fabrizio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Küçükali, Fahri (University of Antwerp) ; Pasquier, Florence (CHU CNR-MAJ, Lille) ; Sanchez-Garcia, Florentino (Hospital Universitario de Gran Canaria Dr. Negrín) ; Mangialasche, Francesca (Karolinska Institutet) ; Jessen, Frank (University of Cologne) ; Nicolas, Gaël (Hospital de Cabueñes) ; Selbæk, Geir (University of Oslo) ; Ortega, Gemma (National Institute of Health Carlos III) ; Chêne, Geneviève (CHU de Bordeaux, Pole de Santé Publique) ; Hadjigeorgiou, Georgios (University of Cyprus) ; Rossi, Giacomina (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Spalletta, Gianfranco (Baylor College of Medicine) ; Giaccone, Giorgio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Grande, Giulia (Karolinska Institutet and Stockholm University) ; Binetti, Giuliano (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Papenberg, Goran (Karolinska Institutet and Stockholm University) ; Hampel, Harald (Pitié-Salpêtrière Hospital) ; Bailly, Henri (Université Paris Descartes) ; Zetterberg, Henrik (UK Dementia Research Institute at UCL) ; Soininen, Hilkka (Kuopio University Hospital) ; Karlsson, Ida K. (Jönköping University) ; Alvarez, Ignacio (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Appollonio, Ildebrando (San Gerardo hospital) ; Giegling, Ina (Martin-Luther-University Halle-Wittenberg) ; Skoog, Ingmar (University of Gothenburg) ; Saltvedt, Ingvild (Norwegian University of Science and Technhology) ; Rainero, Innocenzo (University of Torino) ; Rosas Allende, Irene (Hospital Universitario Central de Asturias) ; Hort, Jakub (St. Anne's University Hospital Brno) ; Diehl-Schmid, Janine (Technical University of Munich) ; Van Dongen, Jasper (Institute Born-Bunge) ; Vidal, Jean-Sebastien (Université Paris Descartes) ; Lehtisalo, Jenni (Finnish Institute for Health and Welfare) ; Wiltfang, Jens (University of Aveiro) ; Thomassen, Jesper Qvist (Rigshospitalet. Department of Clinical Biochemistry) ; Kornhuber, Johannes (Friedrich-Alexander Universität Erlangen-Nürnberg) ; Haines, Jonathan L. (Case Western Reserve University) ; Vogelgsang, Jonathan (Harvard Medical School) ; Pineda, Juan A. (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Popp, Julius (Lausanne University Hospital) ; Deckert, Jürgen (University Hospital, Wuerzburg) ; Buerger, Katharina (German Center for Neurodegenerative Diseases) ; Morgan, Kevin (University of Nottingham) ; Fließbach, Klaus (University Clinic Bonn) ; Sleegers, Kristel (University of Antwerp) ; Molina-Porcel, Laura (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Kilander, Lena (Department of Public Health and Caring Sciences/Geriatrics, Uppsala) ; Weinhold, Leonie (University Hospital of Bonn) ; Farrer, Lindsay A. (Boston University) ; Wang, Li-San (University of Pennsylvania) ; Kleineidam, Luca (University Clinic Bonn) ; Farotti, Lucia (University of Perugia) ; Parnetti, Lucilla (University of Perugia) ; Tremolizzo, Lucio (Neurology Unit, 'San Gerardo' hospital) ; Hausner, Lucrezia (University of Heidelberg) ; Benussi, Luisa (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Froelich, Lutz (University of Heidelberg) ; Ikram, M. Arfan (Erasmus Medical Center) ; Deniz-Naranjo, M. Candida (Hospital Universitario de Gran Canaria Dr. Negrín) ; Tsolaki, Magda (University of Thessaloniki) ; Rosende-Roca, Maitée (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Löwenmark, Malin (Department of Public Health and Caring Sciences/Geriatrics, Uppsala) ; Hulsman, Marc (Vrije Universiteit Amsterdam) ; Spallazzi, Marco (Azienda Ospedaliero-Universitaria) ; Pericak-Vance, Margaret A. (University of Miami) ; Esiri, Margaret (Nuffield Department of Clinical Neurosciences) ; Bernal Sánchez-Arjona, María (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Dalmasso, Maria Carolina (University of Cologne) ; Martínez-Larrad, María Teresa (CIBERDEM) ; Arcaro, Marina (Fondazione IRCCS Ca' Granda, Ospedale Policlinico) ; Nöthen, Markus M. (University of Bonn) ; Fernández-Fuertes, Marta (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; Dichgans, Martin (Munich Cluster for Systems Neurology) ; Ingelsson, Martin (Department of Public Health and Caring Sciences/Geriatrics, Uppsala) ; Herrmann, Martin J. (University Hospital, Wuerzburg) ; Scherer, Martin (University Medical Centre Hamburg-Eppendorf) ; Vyhnalek, Martin (St. Anne's University Hospital Brno) ; Kosmidis, Mary H. (Aristotle University of Thessaloniki) ; Yannakoulia, Mary (Harokopio University) ; Schmid, Matthias (University Hospital of Bonn) ; Ewers, Michael (German Center for Neurodegenerative Diseases) ; Heneka, Michael T. (German Center for Neurodegenerative Diseases) ; Wagner, Michael (German Center for Neurodegenerative Diseases) ; Scamosci, Michela (University of Perugia) ; Kivipelto, Miia (Stockholms Sjukhem, Research & Development Unit, Stockholm, Sweden) ; Hiltunen, Mikko (University of Eastern Finland. Institute of Biomedicine) ; Zulaica, Miren (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Alegret, Montserrat (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Fornage, Myriam (University of Texas) ; Roberto, Natalia (Universitat Internacional de Catalunya) ; van Schoor, Natasja M. (Vrije Universiteit Amsterdam) ; Seidu, Nazib M. (University of Gothenburg) ; Banaj, Nerisa (IRCCS Santa Lucia Foundation) ; Armstrong, Nicola J. (Murdoch University) ; Scarmeas, Nikolaos (Columbia University) ; Scherbaum, Norbert (University of Duisburg-Essen) ; Goldhardt, Oliver (Technical University of Munich) ; Hanon, Oliver (Université Paris Descartes) ; Peters, Oliver (German Center for Neurodegenerative Diseases) ; Skrobot, Olivia Anna (University of Bristol) ; Quenez, Olivier (FHU G4 Génomique. Normandie Univ) ; Lerch, Ondrej (St. Anne's University Hospital Brno) ; Bossù, Paola (IRCCS Santa Lucia Foundation) ; Caffarra, Paolo (University of Parma) ; Dionigi Rossi, Paolo (IRCCS Ospedale Maggiore Policlinico) ; Sakka, Paraskevi (Athens Association of Alzheimer's disease and Related Disorders) ; Hoffmann, Per (University Hospital Basel (Basilea, Suïssa)) ; Holmans, Peter A. (Cardiff University) ; Fischer, Peter (Social Medicine Center East- Donauspital) ; Riederer, Peter (University Hospital of Würzburg) ; Yang, Qiong (Boston University) ; Marshall, Rachel (Cardiff University) ; Kalaria, Rajesh N. (Campus for Ageing anf Vitality, Newcastle upon Tyne) ; Mayeux, Richard (Columbia University) ; Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ; Cecchetti, Roberta (University of Perugia) ; Ghidoni, Roberta (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Frikke-Schmidt, Ruth (University of Copenhagen) ; Sorbi, Sandro (IRCCS Fondazione Don Carlo Gnocchi) ; Hägg, Sara (Karolinska Institutet) ; Engelborghs, Sebastiaan (VUB University Hospital Brussels) ; Helisalmi, Seppo (University of Eastern Finland) ; Botne Sando, Sigrid (Norwegian University of Science and Technology) ; Kern, Silke (University of Gothenburg) ; Archetti, Silvana (Brescia Hospital) ; Boschi, Silvia (University of Torino) ; Fostinelli, Silvia (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Gil, Silvia (Universitat Internacional de Catalunya) ; Mendoza, Silvia (Instituto Andaluz de Neurociencia) ; Mead, Simon (Institute of Prion Diseases. MRC Prion Unit at UCL) ; Ciccone, Simona (IRCCS Ospedale Maggiore Policlinico) ; Djurovic, Srdjan (University of Bergen) ; Heilmann-Heimbach, Stefanie (University of Bonn) ; Riedel-Heller, Steffi (University of Leipzig) ; Kuulasmaa, Teemu (University of Eastern Finland) ; del Ser, Teodoro (CIEN Foundation/Queen Sofia Foundation Alzheimer Center) ; Lebouvier, Thibaud (CHU CNR-MAJ, Lille, France) ; Polak, Thomas (University Hospital, Wuerzburg) ; Ngandu, Tiia (Finnish Institute for Health and Welfare. Population Health Unit) ; Grimmer, Timo (Technical University of Munich) ; Bessi, Valentina (Azienda Ospedaliero-Universitaria Careggi Largo Brambilla) ; Escott-Price, Valentina (Cardiff University) ; Giedraitis, Vilmantas (Department of Public Health and Caring Sciences/Geriatrics, Uppsala) ; Deramecourt, Vincent (CHU CNR-MAJ, Lille, France) ; Maier, Wolfgang (German Center for Neurodegenerative Diseases) ; Jian, Xueqiu (Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases) ; Pijnenburg, Yolande A. L. (Vrije Universiteit Amsterdam) ; Kehoe, Patrick Gavin (German Center for Neurodegenerative Diseases) ; García-Ribas, Guillermo (Hospital Universitario Ramón y Cajal (Madrid)) ; Sánchez-Juan, Pascual (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Pérez-Tur, Jordi (Instituto de Investigación Sanitaria La Fe) ; Piñol-Ripoll, Gerard (Institut de Recerca Biomedica de Lleida) ; Lopez de Munain, Adolfo (Universidad del País Vasco) ; García-Alberca, Jose María (Instituto Andaluz de Neurociencia) ; Bullido, María J. (Hospital Universitario La Paz (Madrid)) ; Álvarez, Victoria (Hospital Universitario Central de Asturias) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Real, Luis M. (Universidad de Málaga) ; Mir, Pablo (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Medina, Miguel (CIEN Foundation/Queen Sofia Foundation Alzheimer Center) ; Scheltens, Philip (Vrije Universiteit Amsterdam) ; Holstege, Henne (Vrije Universiteit Amsterdam) ; Marquié, Marta (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Sáez, María Eugenia (Centro Andaluz de Estudios Bioinformáticos, Sevilla) ; Carracedo, Ángel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Amouyel, Philippe (Institut Pasteur de Lille) ; Schellenberg, Gerard D. (University of Pennsylvania) ; Williams, Julie (Cardiff University) ; Seshadri, Sudha (Framingham Heart Study) ; van Duijn, Cornelia M. (University of Oxford) ; Mather, Karen A. (Neuroscience Research Australia) ; Sánchez-Valle, Raquel (Universitat de Barcelona) ; Serrano-Ríos, Manuel (CIBERDEM) ; Orellana, Adelina (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Tárraga, Lluís (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Blennow, Kaj (University of Gothenburg) ; Huisman, Martijn (Vrije Universiteit Amsterdam) ; Andreassen, Ole A. (Oslo University Hospital (Oslo, Noruega)) ; Posthuma, Danielle (Vrije Universiteit Amsterdam) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Boada, Mercè (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; van der Flier, Wiesje M. (Vrije Universiteit Amsterdam) ; Ramirez, Alfredo (Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases) ; Lambert, Jean-Charles (Institut Pasteur de Lille) ; van der Lee, Sven J. (Vrije Universiteit Amsterdam) ; Ruiz, Agustín (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Universitat Autònoma de Barcelona
Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. [...]
2021 - 10.1038/s41467-021-22491-8
Nature communications, Vol. 12 (june 2021)  
3.
9 p, 1020.4 KB The autophagic marker p62 highlights Alzheimer type astrocytes in metabolic/hepatic encephalopathy / Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Rahimi, Jasmin (Danube Hospital) ; Klotz, Sigrid (Medical University of Vienna) ; Schmid, Susanne (Medical University of Vienna) ; Ricken, Gerda (Medical University of Vienna) ; Forcen-Vega, Sara (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Budka, Herbert (Medical University of Vienna) ; Kovacs, Gabor G. (University Health Network) ; Universitat Autònoma de Barcelona
Metabolic/hepatic encephalopathy is neuropathologically characterized by the presence of Alzheimer type II astrocytes (AA II) with large and clear nuclear morphology. To date, there is no good immunohistochemical marker to better identify these cells. [...]
2020 - 10.1111/neup.12660
Neuropathology, Vol. 40 (june 2020) , p. 358-366  
4.
6 p, 359.1 KB Does ALS-FUS without FUS mutation represent ALS-FET? Report of three cases / Borrego-Écija, S. (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Cortés-Vicente, Elena (Institut d'Investigació Biomèdica Sant Pau) ; Cervera-Carles, L. (Institut d'Investigació Biomèdica Sant Pau) ; Clarimón, J. (Institut d'Investigació Biomèdica Sant Pau) ; Gamez, Josep (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Batlle, J. (Fundació Hospital Sant Pau i Santa Tecla) ; Ricken, Gerda (Medical University of Vienna) ; Molina-Porcel, L. (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Aldecoa, I. (Hospital Clínic i Provincial de Barcelona) ; Sánchez-Valle, R. (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Rojas-García, Ricard (Institut d'Investigació Biomèdica Sant Pau) ; Gelpi, Ellen (Medical University of Vienna) ; Universitat Autònoma de Barcelona
2018 - 10.1111/nan.12527
Neuropathology and Applied Neurobiology, Vol. 45 (november 2018) , p. 421-426  
5.
10 p, 10.3 MB Nanoscale structure of amyloid-β plaques in Alzheimer's disease / Querol-Vilaseca, M. (Institut d'Investigació Biomèdica Sant Pau) ; Colom-Cadena, Martí (Institut d'Investigació Biomèdica Sant Pau) ; Pegueroles, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Núñez-Llaves, Raúl (Institut d'Investigació Biomèdica Sant Pau) ; Luque-Cabecerans, J. (Institut d'Investigació Biomèdica Sant Pau) ; Muñoz, Laia (Institut d'Investigació Biomèdica Sant Pau) ; Andilla, Jordi (Institut de Ciències Fotòniques) ; Belbin, Olivia (Institut d'Investigació Biomèdica Sant Pau) ; Spires-Jones, T.L. (University of Edinburgh. UK Dementia Research Institute. Centre for Discovery Brain Sciences) ; Gelpi, Ellen (Medical University of Vienna) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Loza-Alvarez, P. (Institut de Ciències Fotòniques) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Soluble amyloid-β (Aβ) is considered to be a critical component in the pathogenesis of Alzheimer's disease (AD). Evidence suggests that these non-fibrillar Aβ assemblies are implicated in synaptic dysfunction, neurodegeneration and cell death. [...]
2019 - 10.1038/s41598-019-41443-3
Scientific reports (Nature Publishing Group), Vol. 9 Núm. 1 (january 2019) , p. 5181  
6.
19 p, 6.1 MB Brain tyrosinase overexpression implicates age-dependent neuromelanin production in Parkinson's disease pathogenesis / Carballo-Carbajal, Iria (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Laguna, Ariadna (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Romero-Giménez, Jordi (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Cuadros, Thais (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Bové, Jordi (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martinez-Vicente, M. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Parent, Annabelle (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Gonzalez-Sepulveda, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Peñuelas, Núria (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Torra, Albert (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Rodríguez-Galván, Beatriz (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ballabio, Andrea (Telethon Institute of Genetics and Medicine (TIGEM)) ; Hasegawa, Takafumi (Department of Neurology. Tohoku University School of Medicin) ; Bortolozzi, Analía (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Gelpi, Ellen (Institute of Neurology. Medical University of Vienna) ; Vila Bover, Miquel (Institució Catalana de Recerca i Estudis Avançats) ; Universitat Autònoma de Barcelona
2019 - 10.1038/s41467-019-08858-y
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 973  
7.
13 p, 787.1 KB Monoaminergic impairment in Down syndrome with Alzheimer's disease compared to early-onset Alzheimer's disease / Dekker, Alain D. (Laboratory of Neurochemistry and Behaviour, Institute Born-Bunge, University of Antwerp, Wilrijk, Antwerp, Belgium) ; Vermeiren, Yannick (Laboratory of Neurochemistry and Behaviour, Institute Born-Bunge, University of Antwerp, Wilrijk, Antwerp, Belgium) ; Carmona Iragui, María (Fundació Catalana Síndrome de Down) ; Benejam, Bessy (Fundació Catalana Síndrome de Down) ; Videla Toro, Laura (Fundació Catalana Síndrome de Down) ; Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Aerts, Tony (Laboratory of Neurochemistry and Behaviour, Institute Born-Bunge, University of Antwerp, Wilrijk, Antwerp, Belgium) ; Van Dam, Debby (Laboratory of Neurochemistry and Behaviour, Institute Born-Bunge, University of Antwerp, Wilrijk, Antwerp, Belgium) ; Fernández, Susana (Fundació Catalana Síndrome de Down) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Videla, Sebastian (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Sieben, Anne (Laboratory of Neurochemistry and Behaviour, Institute Born-Bunge, University of Antwerp, Wilrijk, Antwerp, Belgium) ; Martin, Jean-Jacques (Laboratory of Neurochemistry and Behaviour, Institute Born-Bunge, University of Antwerp, Wilrijk, Antwerp, Belgium) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ; Fortea, Juan (Fundació Catalana Síndrome de Down) ; De Deyn, Peter P. (Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken, Antwerp, Belgium) ; Universitat Autònoma de Barcelona
People with Down syndrome (DS) are at high risk for Alzheimer's disease (AD). Defects in monoamine neurotransmitter systems are implicated in DS and AD but have not been comprehensively studied in DS. [...]
2017 - 10.1016/j.dadm.2017.11.001
Alzheimer's & Dementia : Diagnosis, Assessment & Disease Monitoring, Vol. 10 (november 2017) , p. 99-111  
8.
9 p, 2.0 MB Lack of pathogenic potential of peripheral α-synuclein aggregates from Parkinson's disease patients / Recasens, Ariadna (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Carballo-Carbajal, Iria (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Parent, Annabelle (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Bové, Jordi (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Tolosa, Eduardo (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Vila Bover, Miquel (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular)
The online version of this article (10. 1186/s40478-018-0509-1) contains supplementary material, which is available to authorized users.
2018 - 10.1186/s40478-018-0509-1
Acta neuropathologica communications, Vol. 6 (february 2018)  
9.
13 p, 1.2 MB Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease / De Roeck, Arne (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Van den Bossche, Tobi (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; van der Zee, Julie (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Verheijen, Jan (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; De Coster, Wouter (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Van Dongen, Jasper (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Dillen, Lubina (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Baradaran-Heravi, Yalda (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Heeman, Bavo (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ; Lladó, Albert (Hospital Clínic i Provincial de Barcelona) ; Nacmias, Benedetta (University of Florence) ; Sorbi, Sandro (University of Florence) ; Gelpi, Ellen (Hospital Clínic i Provincial de Barcelona) ; Grau-Rivera, Oriol (Hospital Clínic i Provincial de Barcelona) ; Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Ortega-Cubero, Sara (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Pastor, Maria A. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Graff, Caroline (Karolinska Institutet (Estocolm, Suècia). Center for Alzheimer Research) ; Thonberg, Håkan (Karolinska Institutet (Estocolm, Suècia). Center for Alzheimer Research) ; Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; de Mendonça, Alexandre (University of Lisbon, Portugal) ; Martins, Madalena (University of Lisbon, Portugal) ; Borroni, Barbara (Centre for Neurodegenerative Disorders, University of Brescia, Italy.) ; Padovani, Alessandro (Centre for Neurodegenerative Disorders, University of Brescia, Brescia, Italy) ; Almeida, Maria Rosário (Center for Neuroscience and Cell Biology, University of Coimbra, Portugal) ; Santana, Isabel (Center for Neuroscience and Cell Biology, University of Coimbra, Portugal) ; Diehl-Schmid, Janine (Technische Universität München, Germany) ; Alexopoulos, Panagiotis (Technische Universität München, Germany) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Lleó, Alberto (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Fortea, Juan (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Tsolaki, Magda (Aristotle University of Thessaloniki) ; Koutroumani, Maria (Aristotle University of Thessaloniki) ; Matej, Radoslav (Charles University, Prague, Czech Republic) ; Rohan, Zdenek (Charles University, Prague, Czech Republic) ; De Deyn, Peter (Institute Born-Bunge, University of Antwerp, Belgium) ; Engelborghs, Sebastiaan (Institute Born-Bunge, University of Antwerp, Belgium) ; Cras, Patrick (Institute Born-Bunge, University of Antwerp, Belgium) ; Van Broeckhoven, Christine (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Sleegers, Kristel (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Universitat Autònoma de Barcelona
Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk factor for late-onset Alzheimer's disease (LOAD). [...]
2017 - 10.1007/s00401-017-1714-x
Acta Neuropathologica, Vol. 134 (april 2017) , p. 475-487  
10.
13 p, 955.5 KB TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis / van der Zee, Julie (University of Antwerp) ; Gijselinck, Ilse (University of Antwerp) ; Van Mossevelde, Sara (University Hospital Antwerp (Bèlgica)) ; Perrone, Federica (University of Antwerp) ; Dillen, Lubina (University of Antwerp) ; Heeman, Bavo (University of Antwerp) ; Bäumer, Veerle (University of Antwerp) ; Engelborghs, Sebastiaan (Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken) ; De Bleecker, Jan (Universitair Ziekenhuis Gent) ; Baets, Jonathan (University Hospital Antwerp (Bèlgica)) ; Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Rojas García, Ricard (Universitat Autònoma de Barcelona) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Lleó Bisa, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Diehl-Schmid, Janine (Technische Universität München) ; Alexopoulos, Panagiotis (Technische Universität München) ; Perneczky, Robert (West London Mental Health Trust) ; Synofzik, Matthis (German Research Center for Neurodegenerative Diseases (DZNE)) ; Just, Jennifer (German Research Center for Neurodegenerative Diseases (DZNE)) ; Schöls, Ludger (German Research Center for Neurodegenerative Diseases (DZNE)) ; Graff, Caroline (Karolinska University Hospital) ; Thonberg, Håkan (Karolinska University Hospital) ; Borroni, Barbara (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Jordanova, Albena (Medical University-Sofia) ; Sarafov, Stayko (Medical University-Sofia) ; Tournev, Ivailo (New Bulgarian University) ; de Mendonça, Alexandre (University of Lisbon) ; Miltenberger-Miltényi, Gabriel (University of Lisbon) ; Simões do Couto, Frederico (University of Lisbon) ; Ramirez, Alfredo (University of Cologne) ; Jessen, Frank (German Center for Neurodegenerative Diseases (DZNE)) ; Heneka, Michael T. (University of Bonn) ; Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ; Danek, Adrian (German Center for Neurodegenerative Diseases (DZNE)) ; Cras, Patrick (University Hospital Antwerp (Bèlgica)) ; Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ; De Jonghe, Peter (University Hospital Antwerp (Bèlgica)) ; De Deyn, Peter P. (University Hospital Antwerp (Bèlgica)) ; Sleegers, Kristel (University of Antwerp) ; Cruts, Marc (University of Antwerp) ; Van Broeckhoven, Christine (University of Antwerp) ; Goeman, Johan (University Hospital Antwerp (Bèlgica)) ; Nuytten, Dirk (University Hospital Antwerp (Bèlgica)) ; Smets, Katrien (University Hospital Antwerp (Bèlgica)) ; Robberecht, Wim (University Hospitals Leuven Gasthuisberg) ; Damme, Philip Van (University Hospitals Leuven Gasthuisberg) ; Bleecker, Jan De (Universitair Ziekenhuis Gent) ; Santens, Patrick (Universitair Ziekenhuis Gent) ; Dermaut, Bart (Universitair Ziekenhuis Gent) ; Versijpt, Jan (University Hospital Brussels) ; Michotte, Alex (University Hospital Brussels) ; Ivanoiu, Adrian (Saint-Luc University Hospital) ; Deryck, Olivier (General Hospital Sint-Jan Brugge) ; Bergmans, Bruno (General Hospital Sint-Jan Brugge) ; Delbeck, Jean (General Hospital Sint-Maria) ; Bruyland, Marc (General Hospital Glorieux Ronse) ; Willems, Christiana (Jessa Hospital) ; Salmon, Eric (University of Liège and Memory Clinic) ; Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Ortega-Cubero, Sara (Deparment of Neurology, Complejo Asistencial Universitario de Palencia) ; Benussi, Luisa (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Ghidoni, Roberta (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Binetti, Giuliano (MAC Memory Center and Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Hernández, Isabel (Institut Català de Neurociènces Aplicades) ; Boada, Mercè (Institut Català de Neurociènces Aplicades) ; Ruiz Laza, Agustín (Institut Català de Neurociènces Aplicades) ; Sorbi, Sandro (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ; Nacmias, Benedetta (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ; Bagnoli, Silvia (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ; Sorbi, Sandro (IRCCS Don Carlo Gnocchi Scandicci) ; Sánchez Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Lladó, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Santana, Isabel (University of Coimbra) ; Rosário Almeida, Maria (University of Coimbra) ; Frisoni, Giovanni B (Hôpitaux Universitaires de Genève et Université de Genève, Genève, Switzerland and IRCCS Fatebenefratelli) ; Maetzler, Walter (Hertie Institute for Clinical Brain Research) ; Matej, Radoslav (Thomayer Hospital, Prague and Charles University) ; Fraidakis, Matthew J. (NeuroRARE Centre for Rare and Genetic Neurological & Neuromuscular Diseases & Neurogenetics) ; Kovacs, Gabor G. (Medical University of Vienna) ; Fabrizi, Gian Maria (University of Verona) ; Testi, Silvia (University of Verona) ; Universitat Autònoma de Barcelona
We investigated the mutation spectrum of the TANK-Binding Kinase 1 (TBK1) gene and its associated phenotypic spectrum by exonic resequencing of TBK1 in a cohort of 2,538 patients with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or FTD plus ALS, ascertained within the European Early-Onset Dementia Consortium. [...]
2017 - 10.1002/humu.23161
Human mutation, Vol. 38, Issue 3 (March 2017) , p. 297-309  

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3 Gelpi, Ettore
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