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13 p, 1.8 MB |
Replication study of plasma proteins relating to Alzheimer's pathology
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Shi, Liu (University of Oxford. Department of Psychiatry) ;
Winchester, Laura M. (University of Oxford. Department of Psychiatry) ;
Westwood, Sarah (University of Oxford. Department of Psychiatry) ;
Baird, Alison L (University of Oxford. Department of Psychiatry) ;
Anand, Sneha N (University of Oxford. Department of Psychiatry) ;
Buckley, Noel J. (University of Oxford. Department of Psychiatry) ;
Hye, Abdul (Maurice Wohl Clinical Neuroscience. Institute of Psychiatry. Psychology and Neuroscience. Kings College London) ;
Ashton, Nicholas J. (University of Gothenburg) ;
Bos, Isabelle (Alzheimer Center. VU University Medical Center) ;
Vos, Stephanie J.B. (Department of Psychiatry and Neuropsychology. School for Mental Health and Neuroscience. Alzheimer Centrum Limburg. Maastricht University) ;
Kate, Mara Ten (Amsterdam UMC. University Medical Center) ;
Scheltens, Philip (Amsterdam UMC. University Medical Center) ;
Teunissen, Charlotte E. (Amsterdam University Medical Centers (AUMC)) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
Gabel, Silvy (KU Leuven. Laboratory for Cognitive Neurology) ;
Meersmans, Karen (KU Leuven. Laboratory for Cognitive Neurology) ;
Engelborghs, Sebastiaan (Department of Neurology. UZ Brussel and Center for Neurociences (C4N). Vrije Universiteit Brussel) ;
De Roeck, Ellen E (Department of Neurology and Memory Clinic. Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken) ;
Sleegers, Kristel (University of Antwerp. Institute Born-Bunge) ;
Frisoni, Giovanni B. (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Blin, Olivier (AIX marseille university. INS. Ap-hm) ;
Richardson, Jill C. (Neurosciences Therapeutic Area. GlaxoSmithKline R&D) ;
Bordet, Régis (Inserm. University of Lille. CHU Lille) ;
Molinuevo, José L. (Barcelonaβeta Brain Research Center (BBRC)) ;
Rami Gonzalez, Lorena (Barcelonaβeta Brain Research Center (BBRC)) ;
Wallin, Anders (Institute of Neuroscience and Physiology. Sahlgrenska Academy at University of Gothenburg) ;
Kettunen, Petronella (Institute of Neuroscience and Physiology. Sahlgrenska Academy at University of Gothenburg) ;
Tsolaki, Magda (AHEPA University Hospital (Grècia)) ;
Verhey, Frans (Department of Psychiatry and Neuropsychology. School for Mental Health and Neuroscience. Alzheimer Centrum Limburg. Maastricht University) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Sala, Isabel (Institut d'Investigació Biomèdica Sant Pau) ;
Popp, Julius (Geriatric Psychiatry. Department of Mental Health and Psychiatry. Geneva University Hospitals) ;
Peyratout, Gwendoline (Lausanne University Hospital) ;
Martinez-Lage, Pablo (CITA-Alzheimer Foundation) ;
Tainta, Mikel (CITA-Alzheimer Foundation) ;
Johannsen, Peter (Danish Dementia Research Centre. Rigshospitalet. Copenhagen University Hospital) ;
Freund-Levi, Yvonne (Karolinska Institutet Center for Alzheimer Research. Division of Clinical Geriatrics. School of Medical Sciences Örebro University and Department of Neurobiology. Caring Sciences and Society (NVS)) ;
Frölich, Lutz (Department of Geriatric Psychiatry. Zentralinstitut für Seelische Gesundheit. University of Heidelberg) ;
Dobricic, Valerija (Lübeck Interdisciplinary Platform for Genome Analytics. Institutes of Neurogenetics and Cardiogenetics. University of Lübeck) ;
Legido-Quigley, Cristina (The Systems Medicine Group. Steno Diabetes Center) ;
Barkhof, Frederik (UCL Institutes of Neurology and Healthcare Engineering) ;
Andreasson, Ulf (Clinical Sahlgrenska University Hospital) ;
Blennow, Kaj (Sahlgrenska University Hospital (Suècia)) ;
Zetterberg, Henrik (UCL Institute of Neurology (Regne Unit)) ;
Streffer, Johannes (UCB. Braine-l'Alleud. Belgium. formerly Janssen R&D. LLC Beerse) ;
Lill, Christina M. (Ageing Epidemiology Research Unit. School of Public Health. Imperial College) ;
Bertram, Lars (Department of Psychology. University of Oslo) ;
Visser, Pieter Jelle (Alzheimer Center. VU University Medical Center) ;
Kolb, Hartmuth C. (Janssen R&D) ;
Narayan, Vaibhav A. (Janssen R&D) ;
Lovestone, Simon (Janssen R&D) ;
Nevado-Holgado, Alejo (Department of Psychiatry. University of Oxford)
Introduction: This study sought to discover and replicate plasma proteomic biomarkers relating to Alzheimer's disease (AD) including both the "ATN" (amyloid/tau/neurodegeneration) diagnostic framework and clinical diagnosis. [...]
2021 -  10.1002/alz.12322
Alzheimer's & Dementia, Vol. 17 Núm. 9 (september 2021) , p. 1452-1464
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13 p, 2.5 MB |
TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer's disease biomarker levels
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Hong, Shengjun (Lübeck Interdisciplinary Platform for Genome Analytics (LIGA). University of Lübeck) ;
Dobricic, Valerija (Lübeck Interdisciplinary Platform for Genome Analytics (LIGA). University of Lübeck) ;
Ohlei, Olena (Lübeck Interdisciplinary Platform for Genome Analytics (LIGA). University of Lübeck) ;
Bos, Isabelle (Alzheimer Center Amsterdam. Department of Neurology. Amsterdam Neuroscience. Vrije Universiteit Amsterdam) ;
Vos, Stephanie J.B. (Alzheimer Center Amsterdam. Department of Neurology. Amsterdam Neuroscience. Vrije Universiteit Amsterdam) ;
Prokopenko, Dimitry (Massachusetts General Hospital (Boston)) ;
Tijms, Betty M. (Vrije Universiteit Amsterdam) ;
Andreasson, Ulf (Sahlgrenska University Hospital (Suècia)) ;
Blennow, Kaj (Sahlgrenska University Hospital (Suècia)) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
Gabel, Silvy (KU Leuven. Department of Neurosciences) ;
Scheltens, Philip (Vrije Universiteit Amsterdam) ;
Teunissen, Charlotte E. (Amsterdam University Medical Centers (AUMC)) ;
Engelborghs, Sebastiaan (Vrije Universiteit Brussel) ;
Frisoni, Giovani (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Blin, Olivier (AIX Marseille University. INS. Ap-hm) ;
Richardson, Jill C. (Neurosciences Therapeutic Area. GlaxoSmithKline R&D) ;
Bordet, Régis (Inserm. CHU Lille. University of Lille) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
Popp, Julius (Lausanne University Hospital) ;
Clark, Christopher (University Hospital of Psychiatry Zurich) ;
Peyratout, Gwendoline (University Hospital of Lausanne. Department of Psychiatry) ;
Martinez-Lage, Pablo (Department of Neurology. Center for Research and Advanced Therapies. CITA-Alzheimer Foundation) ;
Tainta, Mikel (Department of Neurology. Center for Research and Advanced Therapies. CITA-Alzheimer Foundation) ;
Dobson, Richard J.B. (University College London. Hospitals Biomedical Research Centre) ;
Legido-Quigley, Cristina (King's College London) ;
Sleegers, Kristel (University of Antwerp. Institute Born-Bunge) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Tanzi, Rudolph E. (Genetics and Aging Unit and McCance Center for Brain Health. Department of Neurology. Massachusetts General Hospital) ;
ten Kate, Mara (Amsterdam UMC. University Medical Center) ;
Wittig, Michael (Christian-Albrechts-University of Kiel. Institute of Clinical Molecular Biology) ;
Franke, Andre (Christian-Albrechts-University of Kiel. Institute of Clinical Molecular Biology) ;
Lill, Christina M. (Imperial College. School of Public Health) ;
Barkhof, Frederik (University College London. Institutes of Neurology and Healthcare Engineering) ;
Lovestone, Simon (University of Oxford. Department of Psychiatry) ;
Streffer, Johannes (Translational Medicine Neuroscience. UCB Biopharma SPRL. Braine l'Alleud) ;
Zetterberg, Henrik (UCL Institute of Neurology (Regne Unit). UK Dementia Research Institute) ;
Visser, Pieter J. (Karolinska Instutet. Department of Neurobiology) ;
Bertram, Lars (University of Oslo. Department of Psychology)
Introduction: Neurofilament light (NfL), chitinase-3-like protein 1 (YKL-40), and neurogranin (Ng) are biomarkers for Alzheimer's disease (AD) to monitor axonal damage, astroglial activation, and synaptic degeneration, respectively. [...]
2021 - 10.1002/alz.12330
Alzheimer's & Dementia, Vol. 17 Núm. 10 (october 2021) , p. 1628-1640
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16 p, 2.1 MB |
Cerebrospinal fluid tau levels are associated with abnormal neuronal plasticity markers in Alzheimer's disease
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Visser, Pieter Jelle (Karolinska Institutet (Estocolm, Suècia)) ;
Reus, Lianne M. (Vrije Universiteit Amsterdam) ;
Gobom, Johan (Sahlgrenska Academy at the University of Gothenburg) ;
Jansen, Iris E (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)
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16 p, 4.3 MB |
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
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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) ;
Rodríguez-Rodríguez, 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, Olivier (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 (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 (University College London. Institute of Prion Diseases) ;
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)
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5.
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7 p, 439.8 KB |
The European Reference Network for Rare Neurological Diseases
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Reinhard, Carola (University Hospital of Tübingen (Alemanya)) ;
Bachoud-Lévi, Anne-Catherine (Henri Mondor-Albert Chenevier Hospital) ;
Bäumer, Tobias (University of Lübeck) ;
Bertini, Enrico (Bambino Gesù Children's Hospital) ;
Brunelle, Alicia (University Hospital of Tübingen (Alemanya)) ;
Buizer, Annemieke I. (Amsterdam Movement Sciences and Emma Children's Hospital) ;
Federico, Antonio (University of Siena) ;
Gasser, Thomas (German Center for Neurodegenerative Diseases) ;
Groeschel, Samuel (University Children's Hospital) ;
Hermanns, Sanja (University Hospital of Tübingen (Alemanya)) ;
Klockgether, Thomas (University Hospital Bonn (Bonn, Alemanya)) ;
Krägeloh-Mann, Ingeborg (University Children's Hospital) ;
Landwehrmeyer, G. Bernhard (University of Ulm) ;
Leber, Isabelle (AP-HP - Hôpital Pitié-Salpêtrière) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Mariotti, Caterina (Unit of Medical Genetics and Neurogenetics, Fondazione Instituto de Ricovero e Cura a Carattere Scientifico Istituto Neurologico Carlo Besta) ;
Meissner, Wassilios G. (Department of Medicine, University of Otago, New Zealand Brain Research Institute) ;
Molnar, Maria Judit (Institute of Genomic Medicine and Rare Disorders, Semmelweis University) ;
Nonnekes, Jorik (Department of Rehabilitation, Centre of Expertise for Parkinson and Movement Disorders, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre) ;
Ortigoza Escobar, Juan Dario (Institut de Recerca Sant Joan de Déu) ;
Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Renna Linton, Lori (EuroHSP (França)) ;
Schöls, Ludger (University of Tübingen) ;
Schuele, Rebecca (University of Tübingen) ;
Tijssen, Marina A. J. (University of Groningen) ;
Vandenberghe, Rik (Katholieke Universiteit Leuven) ;
Volkmer, Anna (University College London Hospitals National Health System Foundation Trust National Hospital for Neurology and Neurosurgery) ;
Wolf, Nicole I. (Emma Children's Hospital) ;
Graessner, Holm (University Hospital of Tübingen (Alemanya)) ;
Universitat Autònoma de Barcelona
While rare diseases (RDs) are by definition of low prevalence, the total number of patients suffering from an RD is high, and the majority of them have neurologic manifestations, involving central, peripheral nerve, and muscle. [...]
2021 - 10.3389/fneur.2020.616569
Frontiers in neurology, Vol. 11 (january 2021)
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6.
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15 p, 1.5 MB |
CSF Proteomic Alzheimer's Disease-Predictive Subtypes in Cognitively Intact Amyloid Negative Individuals
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Tijms, Betty Marije (Amsterdam UMC) ;
Gobom, Johan (University of Gothenburg) ;
Teunissen, Charlotte (Amsterdam UMC. University Medical Center) ;
Dobricic, Valerija (University of Lübeck) ;
Tsolaki, Magda (AHEPA University Hospital (Grècia)) ;
Verhey, Frans (Maastricht University) ;
Popp, Julius (University of Zürich) ;
Martinez-Lage, Pablo (Fundación CITA-Alzhéimer Fundazioa) ;
Vandenberghe, Rik (KU Leuven. Department of Neurosciences) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Molinuévo, José Luis (Hospital Clínic i Provincial de Barcelona) ;
Engelborghs, Sebastiaan (Universitair Ziekenhuis Brussel) ;
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 (University of Oslo. Department of Psychology) ;
Lovestone, Simon (University of Oxford) ;
Streffer, Johannes (AC Immune SA) ;
Vos, Stephanie (Maastricht University) ;
Blennow, Kaj (University of Gothenburg) ;
Scheltens, Philip (Amsterdam UMC) ;
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)
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7.
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16 p, 903.0 KB |
Dickkopf-1 Overexpression in vitro Nominates Candidate Blood Biomarkers Relating to Alzheimer's Disease Pathology
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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 Gonzalez, 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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8.
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17 p, 1.3 MB |
Pathophysiological subtypes of Alzheimer's disease based on cerebrospinal fluid proteomics
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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 E (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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9.
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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
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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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10 p, 498.4 KB |
Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort
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Cacace, Rita (University of Antwerp) ;
Van den Bossche, Tobi (University Hospital Antwerp (Bèlgica)) ;
Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ;
Geerts, Nathalie (University of Antwerp) ;
Laureys, Annelies (University of Antwerp) ;
Dillen, Lubina (University of Antwerp) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Thonberg, Håkan (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Chiang, Huei-Hsin (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Pastor, Pau (Instituto de Salud Carlos III) ;
Ortega-Cubero, Sara (Instituto de Salud Carlos III) ;
Pastor, Maria A. (Universidad de Navarra. Facultad de Medicina) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Alexopoulos, Panagiotis (Technische Universität München) ;
Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Nacmias, Benedetta (University of Florence) ;
Sorbi, Sandro (University of Florence) ;
Sanchez-Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Llado Plarrumani, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Almeida, Maria Rosário (University of Coimbra) ;
Santana, Isabel (University of Coimbra) ;
Tsolaki, Magda (Aristotle University of Thessaloniki) ;
Koutroumani, Maria (Aristotle University of Thessaloniki) ;
Clarimón, Jordi (Universitat Autònoma de Barcelona) ;
Lleó Bisa, Alberto (Universitat Autònoma de Barcelona) ;
Fortea, Juan (Universitat Autònoma de Barcelona) ;
de Mendonça, Alexandre (University of Lisbon) ;
Martins, Madalena (University of Lisbon) ;
Borroni, Barbara (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Matej, Radoslav (Thomayer Hospital) ;
Rohan, Zdenek (Third Medical Faculty of Charles University in Prague) ;
Vandenbulcke, Mathieu (University of Leuven) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
De Deyn, Peter Paul (University Hospital Antwerp (Bèlgica)) ;
Cras, Patrick (University Hospital Antwerp (Bèlgica)) ;
van der Zee, Julie (University of Antwerp) ;
Sleegers, Kristel (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp)
Rare variants in the phospholipase D3 gene (PLD3) were associated with increased risk for late-onset Alzheimer disease (LOAD). We identified a missense mutation in PLD3 in whole-genome sequence data of a patient with autopsy confirmed Alzheimer disease (AD) and onset age of 50 years. [...]
2015 - 10.1002/humu.22908
Human mutation, Vol. 36 (october 2015) , p. 1226-1235
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