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Articles, 12 registres trobats
Articles 12 registres trobats  1 - 10següent  anar al registre:
1.
16 p, 2.1 MB Cerebrospinal fluid tau levels are associated with abnormal neuronal plasticity markers in Alzheimer's disease / Visser, Pieter Jelle (Karolinska Institutet (Estocolm, Suècia)) ; Reus, Lianne M. (Vrije Universiteit Amsterdam) ; Gobom, Johan (Sahlgrenska Academy at the University of Gothenburg) ; Jansen, Iris (VU University) ; Dicks, Ellen (Vrije Universiteit Amsterdam) ; van der Lee, Sven J. (Vrije Universiteit Amsterdam) ; Tsolaki, Magda (AHEPA University Hospital (Grècia)) ; Verhey, Frans R. J. (Maastricht University) ; Popp, Julius (University Hospital Zurich (Suïssa)) ; Martinez-Lage, Pablo (Fundación CITA-Alzhéimer Fundazioa) ; Vandenberghe, Rik (KU Leuven) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Molinuevo, José Luís (Hospital Clínic i Provincial de Barcelona) ; Engelborghs, Sebastiaan (Vrije Universiteit Brussel) ; Freund-Levi, Yvonne (Örebro University) ; Froelich, Lutz (University of Heidelberg) ; Sleegers, Kristel (University of Antwerp) ; Dobricic, Valerija (University of Lübeck) ; Lovestone, Simon (High Wycombe, UK) ; Streffer, Johannes (AC Immune SA) ; Vos, Stephanie J. B. (Maastricht University) ; Bos, Isabelle (Maastricht University) ; Smit, August B. (Vrije Universiteit Amsterdam) ; Blennow, Kaj (Sahlgrenska Academy at the University of Gothenburg) ; Scheltens, Philip (Vrije Universiteit Amsterdam) ; Teunissen, Charlotte E. (Amsterdam University Medical Centers (AUMC)) ; Bertram, Lars (University of Oslo) ; Zetterberg, Henrik (Dementia Research Institute at UCL) ; Tijms, Betty M. (Vrije Universiteit Amsterdam) ; Universitat Autònoma de Barcelona
Increased total tau (t-tau) in cerebrospinal fluid (CSF) is a key characteristic of Alzheimer's disease (AD) and is considered to result from neurodegeneration. T-tau levels, however, can be increased in very early disease stages, when neurodegeneration is limited, and can be normal in advanced disease stages. [...]
2022 - 10.1186/s13024-022-00521-3
Molecular neurodegeneration, Vol. 17 (march 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 (Estocolm, Suècia)) ; 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 Biomèdica) ; 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 and Karolinska Institutet (Suècia)) ; 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 Biomèdica) ; 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 and Karolinska Institutet (Suècia)) ; Tybjærg-Hansen, Anne (University of Copenhagen) ; Hartmann, Annette M. (Martin-Luther-University Halle-Wittenberg) ; Spottke, Annika (University of Bonn) ; Corbatón-Anchuelo, Arturo (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas) ; 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 Universitario de Cabueñes (Gijón)) ; Muñoz-Fernandez, Carmen (Hospital Universitario de Gran Canaria Dr. Negrín) ; Dufouil, Carole (CHU de Bordeaux) ; Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; 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 (Estocolm, Suècia)) ; Jessen, Frank (University of Cologne) ; Nicolas, Gaël (Hospital Universitario de Cabueñes (Gijón)) ; 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 (UCL Institute of Neurology (Regne Unit). UK Dementia Research Institute) ; Soininen, Hilkka (Kuopio University Hospital ( Finlàndia)) ; 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 (Copenhagen University Hospital Rigshospitalet) ; 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 (Ospedale San Gerardo (Itàlia)) ; 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 (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas) ; 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 (Estocolm, Suècia)) ; 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 Biomèdica) ; 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 (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas) ; 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 A (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.
15 p, 1.5 MB CSF Proteomic Alzheimer's Disease-Predictive Subtypes in Cognitively Intact Amyloid Negative Individuals / Tijms, Betty Marije (Amsterdam UMC) ; Gobom, Johan (Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, 413 45 Mölndal) ; Teunissen, Charlotte (Amsterdam UMC. University Medical Center) ; Dobricic, Valerija (University of Lübeck) ; Tsolaki, Magda (AHEPA University Hospital (Grècia)) ; Verhey, Frans (Alzheimer Center Limburg, School for Mental Health and Neuroscience, Maastricht University, 6211 LK Maastricht, The Netherlands; (F.V.); (S.V.)) ; Popp, Julius (University of Zürich) ; Martinez-Lage, Pablo (Fundación CITA-Alzhéimer Fundazioa, 20009 San Sebastian, Spain) ; Vandenberghe, Rik (Laboratory for Cognitive Neurology, Department of Neurosciences, KU Leuven, 3000 Leuven) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Molinuévo, José Luis (Hospital Clínic i Provincial de Barcelona) ; Engelborghs, Sebastiaan (Department of Neurology, Universitair Ziekenhuis Brussel and Center for Neurosciences, Vrije Universiteit Brussel, 1090 Brussels) ; Freund-Levi, Yvonne (Karolinska Institutet (Estocolm, Suècia). Department of Neurobiology, Care Sciences and Society) ; Froelich, Lutz (University of Heidelberg. Department of Geriatric Psychiatry) ; Bertram, Lars (Center for Lifespan Changes in Brain and Cognition, Department of Psychology, University of Oslo) ; Lovestone, Simon (University of Oxford, Oxford OX1 2JD) ; Streffer, Johannes (AC Immune SA, 1024 Lausanne) ; Vos, Stephanie (Alzheimer Center Limburg, School for Mental Health and Neuroscience, Maastricht University) ; , ADNI ; Blennow, Kaj (Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, 413 45 Mölndal) ; Scheltens, Philip (Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience, Amsterdam UMC, 1007 MB Amsterdam) ; Zetterberg, Henrik (UCL Institute of Neurology (Regne Unit). UK Dementia Research Institute) ; Visser, Pieter Jelle (Karolinska Institutet (Estocolm, Suècia). Department of Neurobiology, Care Sciences and Society) ; Universitat Autònoma de Barcelona
We recently discovered three distinct pathophysiological subtypes in Alzheimer's disease (AD) using cerebrospinal fluid (CSF) proteomics: one with neuronal hyperplasticity, a second with innate immune system activation, and a third subtype with blood-brain barrier dysfunction. [...]
2021 - 10.3390/proteomes9030036
Proteomes, Vol. 9 (august 2021)  
4.
16 p, 903.0 KB Dickkopf-1 Overexpression in vitro Nominates Candidate Blood Biomarkers Relating to Alzheimer's Disease Pathology / Shi, Liu (University of Oxford) ; Winchester, Laura M. (University of Oxford) ; Liu, Benjamine Y. (University of Oxford) ; Killick, Richard (Maurice Wohl Institute Clinical Neuroscience Institute) ; Ribe, Elena M. (University of Oxford) ; Westwood, Sarah (University of Oxford) ; Baird, Alison L. (University of Oxford) ; Buckley, Noel J. (University of Oxford) ; Hong, Shengjun (University of Lübeck) ; Dobricic, Valerija (University of Lübeck) ; Kilpert, Fabian (University of Lübeck) ; Franke, Andre (Christian-Albrechts-University of Kiel) ; Kiddle, Steven (King's College London) ; Sattlecker, Martina (King's College London) ; Dobson, Richard (University College London) ; Cuadrado, Antonio ("Victor Babes" National Institute of Pathology) ; Hye, Abdul (Maurice Wohl Institute Clinical Neuroscience Institute) ; Ashton, Nicholas J. (University of Gothenburg) ; Morgan, Angharad R. (Cardiff University) ; Bos, Isabelle (Amsterdam UMC. University Medical Center) ; Vos, Stephanie J. B. (Maastricht University) ; ten Kate, Mara (Amsterdam UMC. University Medical Center) ; Scheltens, Philip (Amsterdam UMC. University Medical Center) ; Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ; Gabel, Silvy (Laboratory for Cognitive Neurology) ; Meersmans, Karen (Laboratory for Cognitive Neurology) ; Engelborghs, Sebastiaan (Universitair Ziekenhuis Brussel-UZ Brussel. Department of Neurology) ; De Roeck, Ellen E. (University of Antwerp) ; Sleegers, Kristel (Center for Molecular Neurology) ; Frisoni, Giovanni B.. (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Blin, Olivier (Aix-Marseille Université) ; Richardson, Jill C. (GlaxoSmithKline R&D. Neurosciences Therapeutic Area) ; Bordet, Régis (University of Lille) ; Molinuevo, José L. (Barcelonaβeta Brain Research Center (BBRC)) ; Rami, Lorena (Barcelonaβeta Brain Research Center (BBRC)) ; Wallin, Anders (Sahlgrenska University Hospital (Suècia)) ; Kettunen, Petronella (University of Oxford) ; Tsolaki, Magda (Aristotle University of Thessaloniki) ; Verhey, Frans (Maastricht University) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Popp, Julius (University of Geneva) ; Peyratout, Gwendoline (Lausanne University Hospital) ; Martinez-Lage, Pablo (CITA-Alzheimer Foundation (San Sebastian)) ; Tainta, Mikel (Organización Sanitaria Integrada Goierri) ; Johannsen, Peter (Copenhagen University Hospital) ; Teunissen, Charlotte E. (Amsterdam UMC. University Medical Center) ; Freund-Levi, Yvonne (Department of Psychiatry, Örebro Universitetssjukhus) ; Frölich, Lutz (University of Heidelberg) ; Legido-Quigley, Cristina (Steno Diabetes Center Copenhagen) ; Barkhof, Frederik (UCL Institutes of Neurology and Healthcare Engineering) ; Blennow, Kaj (Sahlgrenska University Hospital (Suècia)) ; Rasmussen, Katrine Laura (University of Copenhagen) ; Nordestgaard, Børge Grønne (Copenhagen University Hospital) ; Frikke-Schmidt, Ruth (University of Copenhagen) ; Nielsen, Sune Fallgaard (Copenhagen University Hospital) ; Soininen, Hilkka (University of Eastern Finland) ; Vellas, Bruno (Univeriste Paul Sabatier) ; Kloszewska, Iwona (Medical University of Lodz) ; Mecocci, Patrizia (University of Perugia) ; Zetterberg, Henrik (UCL Institute of Neurology (Regne Unit)) ; Morgan, B. Paul (Cardiff University) ; Streffer, Johannes (UCB Pharma (Braine-l'Alleud, Bèlgica)) ; Visser, Pieter Jelle (Karolinska Institutet (Estocolm, Suècia)) ; Bertram, Lars (University of Oslo) ; Nevado-Holgado, Alejo (University of Oxford) ; Lovestone, Simon (University of Oxford) ; Universitat Autònoma de Barcelona
Previous studies suggest that Dickkopf-1 (DKK1), an inhibitor of Wnt signaling, plays a role in amyloid-induced toxicity and hence Alzheimer's disease (AD). However, the effect of DKK1 expression on protein expression, and whether such proteins are altered in disease, is unknown. [...]
2020 - 10.3233/JAD-200208
Journal of Alzheimer's disease, Vol. 77 (september 2020) , p. 1353-1368  
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17 p, 1.3 MB Pathophysiological subtypes of Alzheimer's disease based on cerebrospinal fluid proteomics / Tijms, Betty M. (Vrije Universiteit Amsterdam) ; Gobom, Johan (Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg) ; Reus, Lianne (Vrije Universiteit Amsterdam) ; Jansen, Iris (Vrije Universiteit Amsterdam) ; Hong, Shengjun (Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), Institutes of Neurogenetics and Cardiogenetics, University of Lübeck) ; Dobricic, Valerija (Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), Institutes of Neurogenetics and Cardiogenetics, University of Lübeck) ; Kilpert, Fabian (Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), Institutes of Neurogenetics and Cardiogenetics, University of Lübeck) ; ten Kate, Mara (Vrije Universiteit Amsterdam) ; Barkhof, Frederik (Institutes of Neurology and Healthcare Engineering, UCL London) ; Tsolaki, Magda (AHEPA University Hospital (Grècia)) ; Verhey, Frans R. J. (Alzheimer Center Limburg, School for Mental Health and Neuroscience, Maastricht University) ; Popp, Julius (Geneva University Hospitals (Suïssa)) ; Martinez-Lage, Pablo (Fundación CITA-Alzhéimer Fundazioa) ; Vandenberghe, Rik (Laboratory for Cognitive Neurology, Department of Neurosciences, KU Leuven) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Molinuevo, José Luís (Hospital Clínic i Provincial de Barcelona) ; Engelborghs, Sebastiaan (Department of Neurology, UZ Brussel and Center for Neurosciences (C4N), Vrije Universiteit Brussel (VUB)) ; Bertram, Lars (Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), Institutes of Neurogenetics and Cardiogenetics, University of Lübeck) ; Lovestone, Simon (Janssen R&D) ; Streffer, Johannes (UCB Biopharma SPRL) ; Vos, Stephanie (Alzheimer Center Limburg, School for Mental Health and Neuroscience, Maastricht University) ; Bos, Isabelle (Alzheimer Center Limburg, School for Mental Health and Neuroscience, Maastricht University) ; Blennow, Kaj (Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg) ; Scheltens, Philip (Vrije Universiteit Amsterdam) ; Teunissen, Charlotte E. (Neurochemistry laboratory, Department of Clinical Chemistry, Amsterdam UMC - location VUmc, Amsterdam Neuroscience) ; Zetterberg, Henrik (UCL Institute of Neurology (Regne Unit). UK Dementia Research Institute) ; Visser, Pieter Jelle (Karolinska Institutet (Estocolm, Suècia). Department of Neurobiology, Care Sciences and Society) ; Universitat Autònoma de Barcelona
Using CSF proteomics, Tijms et al. identify three Alzheimer's disease subtypes that show: 1) hyperplasticity and increased BACE1 levels; 2) innate immune activation; and 3) blood-brain barrier dysfunction with low BACE1 levels. [...]
2020 - 10.1093/brain/awaa325
Brain, Vol. 143 (november 2020) , p. 3776-3792  
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8 p, 444.3 KB White paper by the Society for CSF Analysis and Clinical Neurochemistry : Overcoming barriers in biomarker development and clinical translation / Teunissen, Charlotte E. (Amsterdam, The Netherlands) ; Otto, Markus (Ulm, Germany) ; Engelborghs, Sebastiaan (Antwerp, Belgium) ; Herukka, Sanna-Kaisa (Kuopio, Finland) ; Lehmann, Sylvain (University Hospital of Montpellier (França)) ; Lewczuk, Piotr (Białystok, Poland) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Perret-Liaudet, Armand (Lyon, France) ; Tumani, Hayrettin (Schwendi, Germany) ; Turner, Martin R. (Oxford, UK) ; Verbeek, Marcel M. (Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Departments of Neurology and Laboratory Medicine, Radboud Alzheimer Centre, Nijmegen, The Netherlands) ; Wiltfang, Jens (Aveiro, Portugal) ; Zetterberg, Henrik (UCL Institute of Neurology (Regne Unit). UK Dementia Research Institute) ; Parnetti, Lucilla (Perugia, Italy) ; Blennow, Kaj (Mölndal, Sweden) ; Universitat Autònoma de Barcelona
Body fluid biomarkers have great potential for different clinical purposes, including diagnosis, prognosis, patient stratification and treatment effect monitoring. This is exemplified by current use of several excellent biomarkers, such as the Alzheimer's disease cerebrospinal fluid (CSF) biomarkers, anti-neuromyelitis optica antibodies and blood neurofilament light. [...]
2018 - 10.1186/s13195-018-0359-x
Alzheimer's research & therapy, Vol. 10 (march 2018)  
7.
16 p, 688.9 KB Consensus guidelines for lumbar puncture in patients with neurological diseases / Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ; Niemantsverdriet, Ellis (Reference Center for Biological Markers of Dementia (BIODEM), Department of Biomedical Sciences, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Struyfs, Hanne (Reference Center for Biological Markers of Dementia (BIODEM), Department of Biomedical Sciences, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Blennow, Kaj (Clinical Neurochemistry Laboratory, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Mölndal, Sweden) ; Brouns, Raf (Department of Neurology, Universitair Ziekenhuis Brussel (UZ Brussel), Center for Neurosciences (C4N), Vrije Universiteit Brussel (VUB), Brussels, Belgium) ; Comabella, Manuel (Hospital Universitari Vall d'Hebron) ; Dujmovic, Irena (Clinic of Neurology, Clinical Centre of Serbia, Department of Neurology, Faculty of Medicine, University of Belgrade School of Medicine, Belgrade, Serbia) ; van der Flier, Wiesje (Amsterdam UMC. University Medical Center) ; Frölich, Lutz (Department of Geriatric Psychiatry, Central Institute of Mental Health, Medical Faculty, Mannheim/Heidelberg University, Mannheim, Germany) ; Galimberti, Daniela (Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy) ; Gnanapavan, Sharmilee (Queen Mary University of London) ; Hemmer, Bernhard (Munich Cluster for Systems Neurology (SyNergy), Munich, Germany) ; Hoff, Erik (Department of Neurology, Atrium Medisch Centrum Parkstad, Heerlen, The Netherlands) ; Hort, Jakub (International Clinical Research Center, St. Anne's University Hospital Brno, Brno, Czech Republic) ; Iacobaeus, Ellen (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Ingelsson, Martin (Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden) ; Jan de Jong, Frank (Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands) ; Jonsson, Michael (Sahlgrenska University Hospital (Suècia)) ; Khalil, Michael (Department of Neurology, Medical University Graz, Graz, Austria) ; Kuhle, Jens (University Hospital Basel (Basilea, Suïssa)) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; de Mendonça, Alexandre (Laboratory of Neurosciences, Department of Molecular Medicine and Faculty of Medicine, University of Lisbon, Lisbon, Portugal) ; Molinuevo, José Luis (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Nagels, Guy (National MS Center Melsbroek, Brussels, Belgium) ; Paquet, Claire (Research Memory Center Lariboisière Hospital University Paris Diderot INSERMU942, Paris, France) ; Parnetti, Lucilla (Section of Neurology, Centre for Memory Disturbances, Department of Medicine, University of Perugia, Perugia, Italy) ; Roks, Gerwin (Department of Neurology, St Elisabeth Ziekenhuis, Tilburg, The Netherlands) ; Rosa-Neto, Pedro (Departments of Psychiatry, McGill Centre for Studies in Aging, Douglas Hospital Research Center, McGill University, Montreal, Canada) ; Scheltens, Philip (Amsterdam UMC. University Medical Center) ; Skårsgard, Constance (Department of Geriatrics, Kalmar County Hospital, Kalmar, Sweden) ; Stomrud, Erik (Clinical Memory Research Unit, Department of Clinical Sciences, Lund University, Lund, Sweden) ; Tumani, Hayrettin (CSF Laboratory and Multiple Sclerosis Outpatient Unit, Department of Neurology, University of Ulm, Ulm, Germany) ; Visser, Pieter Jelle (Maastricht University. Department of Psychiatry and Neuropsychology) ; Wallin, Anders (Sahlgrenska University Hospital (Suècia)) ; Winblad, Bengt (Karolinska Institutet (Estocolm, Suècia). Department of Neurobiology, Care Sciences and Society) ; Zetterberg, Henrik (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ; Duits, Flora (Amsterdam UMC. University Medical Center) ; Teunissen, Charlotte E. (Neurochemistry Laboratory and Biobank, Department of Clinical Chemistry, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands) ; Universitat Autònoma de Barcelona
Cerebrospinal fluid collection by lumbar puncture (LP) is performed in the diagnostic workup of several neurological brain diseases. Reluctance to perform the procedure is among others due to a lack of standards and guidelines to minimize the risk of complications, such as post-LP headache or back pain. [...]
2017 - 10.1016/j.dadm.2017.04.007
Alzheimer's & Dementia : Diagnosis, Assessment & Disease Monitoring, Vol. 8 (may 2017) , p. 111-126  
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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) ; Llado Plarrumani, 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 Paul (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  
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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 (University Hospital Antwerp (Bèlgica)) ; De Bleecker, Jan (Universitair Ziekenhuis Gent) ; Baets, Jonathan (University Hospital Antwerp (Bèlgica)) ; Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Rojas-Garcia, 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 and Karolinska Institutet (Suècia)) ; Thonberg, Håkan (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; 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 Paul (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 Gasthuisberg (Leuven, Bélgica)) ; Damme, Philip Van (University Hospitals Gasthuisberg (Leuven, Bélgica)) ; 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) ; Llado Plarrumani, 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 (Charles University. Faculty of Medicine in Hradec Králové) ; 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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12 p, 849.5 KB A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease / Verheijen, Jan (University of Antwerp. Institute Born-Bunge) ; Van den Bossche, Tobi (University Hospital Antwerp (Bèlgica)) ; van der Zee, Julie (University of Antwerp. Institute Born-Bunge) ; Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ; Sánchez Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Llado Plarrumani, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Thonberg, Håkan (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Ortega-Cubero, Sara (Complejo Asistencial Universitario de Palencia. Departamento de Neurología) ; Pastor, Maria A. (Clínica Universidad de Navarra) ; Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli (Brescia, Itàlia)) ; Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli (Brescia, Itàlia)) ; Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli (Brescia, Itàlia)) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Lleó Bisa, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; de Mendonça, Alexandre (University of Lisbon. Faculty of Medicine and Institute of Molecular Medicine) ; Martins, Madalena (University of Lisbon. Faculty of Medicine and Institute of Molecular Medicine) ; Grau-Rivera, Oriol (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Bettens, Karolien (University of Antwerp. Institute Born-Bunge) ; Mateiu, Ligia (University of Antwerp. VIB) ; Dillen, Lubina (University of Antwerp. Institute Born-Bunge) ; Cras, Patrick (University Hospital Antwerp (Bèlgica)) ; De Deyn, Peter Paul (University Hospital Antwerp (Bèlgica)) ; Van Broeckhoven, Christine (University of Antwerp. Institute Born-Bunge) ; Sleegers, Kristel (University of Antwerp. Institute Born-Bunge) ; Universitat Autònoma de Barcelona
The sortilin-related receptor 1 (SORL1) gene has been associated with increased risk for Alzheimer's disease (AD). Rare genetic variants in the SORL1 gene have also been implicated in autosomal dominant early-onset AD (EOAD). [...]
2016 - 10.1007/s00401-016-1566-9
Acta Neuropathologica, Vol. 132 (march 2016) , p. 213-224  

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1 Engelborghs, S.
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