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12 p, 1.3 MB |
Genome-wide association study of Alzheimer's disease CSF biomarkers in the EMIF-AD Multimodal Biomarker Discovery dataset
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Hong, Shengjun (University of Lübeck) ;
Prokopenko, Dmitry (Massachusetts General Hospital) ;
Dobricic, Valerija (University of Lübeck) ;
Kilpert, Fabian (University of Lübeck) ;
Bos, Isabelle (Vrije Universiteit Amsterdam) ;
Vos, Stephanie J.B. (Maastricht University) ;
Tijms, Betty M (Vrije Universiteit Amsterdam) ;
Andreasson, Ulf (Sahlgrenska University Hospital (Suècia)) ;
Blennow, Kaj (Sahlgrenska University Hospital (Suècia)) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
Cleynen, Isabelle (KU Leuven) ;
Gabel, Silvy (KU Leuven) ;
Schaeverbeke, Jolien (KU Leuven) ;
Scheltens, Philip (Vrije Universiteit Amsterdam) ;
Teunissen, Charlotte E. (Vrije Universiteit) ;
Niemantsverdriet, Ellis (University of Antwerp) ;
Engelborghs, Sebastiaan (UZ Brussel and Vrije Universiteit Brussel (VUB)) ;
Frisoni, Giovanni B. (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Blin, Olivier (Aix-Marseille Université) ;
Richardson, Jill C. (GlaxoSmithKline R&D) ;
Bordet, Régis (University of Lille) ;
Molinuevo, José Luis (Hospital Clínic i Provincial de Barcelona) ;
Rami Gonzalez, Lorena (Hospital Clínic i Provincial de Barcelona) ;
Kettunen, Petronella (University of Oxford) ;
Wallin, Anders (University of Gothenburg) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Sala, Isabel (Institut d'Investigació Biomèdica Sant Pau) ;
Popp, Julius (Lausanne University Hospital) ;
Peyratout, Gwendoline (Lausanne University Hospital) ;
Martinez-Lage, Pablo (CITA-Alzheimer Foundation) ;
Tainta, Mikel (CITA-Alzheimer Foundation) ;
Dobson, Richard J.B. (University College London) ;
Legido-Quigley, Cristina (King's College London) ;
Sleegers, Kristel (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp) ;
ten Kate, Mara (Amsterdam Neuroscience) ;
Barkhof, Frederik (University College London) ;
Zetterberg, Henrik (UK Dementia Research Institute) ;
Lovestone, Simon (University of Oxford) ;
Streffer, Johannes (UCB Biopharma SPRL) ;
Wittig, Michael (Christian-Albrechts-University of Kiel) ;
Franke, Andre (Christian-Albrechts-University of Kiel) ;
Tanzi, Rudolph E. (Massachusetts General Hospital) ;
Visser, Pieter Jelle (Vrije Universiteit Amsterdam) ;
Bertram, Lars (University of Oslo) ;
Universitat Autònoma de Barcelona
Alzheimer's disease (AD) is the most prevalent neurodegenerative disorder and the most common form of dementia in the elderly. Susceptibility to AD is considerably determined by genetic factors which hitherto were primarily identified using case-control designs. [...]
2020 -  10.1038/s41398-020-01074-z
Translational psychiatry, Vol. 10 Núm. 1 (december 2020) , p. 403
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11 p, 1.4 MB |
APOE ϵ4 genotype-dependent cerebrospinal fluid proteomic signatures in Alzheimer's disease
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Konijnenberg, Elles (Alzheimer Center Amsterdam) ;
Tijms, Betty M. (Alzheimer Center Amsterdam) ;
Gobom, Johan (University of Gothenburg) ;
Dobricic, Valerija (University of Lübeck) ;
Bos, Isabelle (Maastricht University) ;
Vos, Stephanie (Maastricht University) ;
Tsolaki, Magda (AHEPA University Hospital (Grècia)) ;
Verhey, Frans (Maastricht University) ;
Popp, Julius (Lausanne University Hospital) ;
Martinez-Lage, Pablo (CITA-Alzheimer Foundation) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Frölich, Lutz (University of Heidelberg) ;
Lovestone, Simon (Janssen RandD) ;
Streffer, Johannes (Janssen RandD) ;
Bertram, Lars (University of Oslo) ;
Blennow, Kaj (University of Gothenburg) ;
Teunissen, Charlotte E. (Vrije Universiteit Amsterdam) ;
Veerhuis, Robert (Vrije Universiteit Amsterdam) ;
Smit, August B. (Vrije Universiteit Amsterdam) ;
Scheltens, Philip (Vrije Universiteit Amsterdam) ;
Zetterberg, Henrik (UK Dementia Research Institute) ;
Visser, Pieter Jelle (Karolinska Instutet) ;
Universitat Autònoma de Barcelona
Aggregation of amyloid β into plaques in the brain is one of the earliest pathological events in Alzheimer's disease (AD). The exact pathophysiology leading to dementia is still uncertain, but the apolipoprotein E (APOE) ϵ4 genotype plays a major role. [...]
2020 - 10.1186/s13195-020-00628-z
Alzheimer's research & therapy, Vol. 12 Núm. 1 (27 2020) , p. 65
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22 p, 1.4 MB |
Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers
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Jansen, Iris (Vrije Universiteit Amsterdam) ;
van der Lee, Sven J (Vrije Universiteit Amsterdam) ;
Gomez-Fonseca, Duber (Washington University School of Medicine) ;
De Rojas, Itziar (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Dalmasso, Maria Carolina (Neurosciences and Complex Systems Unit (ENyS). CONICET. Hospital El Cruce. National University A. Jauretche (UNAJ)) ;
Grenier-Boley, Benjamin (Université de Lille) ;
Zettergren, Anna (University of Gothenburg) ;
Mishra, Aniket (Université de Bordeaux) ;
Ali, Muhammad (Washington University School of Medicine) ;
Andrade, Victor (University Hospital Bonn. Medical Faculty) ;
Bellenguez, Céline (Université de Lille) ;
Kleineidam, Luca (German Center for Neurodegenerative Diseases (DZNE)) ;
Küçükali, Fahri (University of Antwerp. Department of Biomedical Sciences) ;
Sung, Ju Sung (Washington University School of Medicine) ;
Tesí, Niccolo (Vrije Universiteit Amsterdam) ;
Vromen, Ellen (Amsterdam Neuroscience. Neurodegeneration) ;
Wightman, Douglas P (Vrije Universiteit Amsterdam) ;
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
Alegret, Montserrat (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Alvarez, Ignacio (Fundació per a la Recerca Biomèdica i Social Mútua de Terrassa) ;
Amouyel, Philippe (Université de Lille) ;
Athanasiu, Lavinia (NORMENT Centre. Institute of Clinical Medicine. University of Oslo and Division of Mental Health) ;
Bahrami, Shahram (NORMENT Centre. Institute of Clinical Medicine. University of Oslo and Division of Mental Health) ;
Bailly, Henri (Université Paris Cité) ;
Belbin, Olivia (Institut d'Investigació Biomèdica Sant Pau) ;
Bergh, Sverre (Vestfold Hospital Trust) ;
Bertram, Lars (University of Lübeck) ;
Biessels, Geert Jan (UMC Utrecht Brain Center) ;
Blennow, Kaj (Sahlgrenska University Hospital (Suècia)) ;
Blesa, Rafael (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Boada, Mercè (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Boland, Anne (Université Paris-Saclay. Centre National de Recherche en Génomique Humaine) ;
Buerger, K. (Institute for Stroke and Dementia Research (ISD). University Hospital. LMU Munich) ;
Carracedo, Ángel (Fundación Pública Galega de Medicina Xenómica-CIBERER-IDIS) ;
Cervera Carles, Laura (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Chene, Geneviève (Department of Neurology. CHU de Bordeaux) ;
Claassen, Jurgen (Donders Center for Medical Neuroscience) ;
Debette, Stephanie (University School of Medicine) ;
Deleuze, Jean‑Francois (Université Paris-Saclay. Centre National de Recherche en Génomique Humaine) ;
De Deyn, Peter Paul (University Medical Center Groningen. Department of Neurology and Alzheimer Center Groningen.) ;
Diehl-Schmid, Janine (kbo-Inn-Salzach-Hospital) ;
Djurovic, Srdjan (University of Bergen. Department of Clinical Science. NORMENT Centre.) ;
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Dufouil, Carole (Pôle de Santé Publique) ;
Duron, Emmanuelle (Univerisité Paris-Saclay) ;
Düzel, Emrah (Otto-von-Guericke University Magdeburg. Institute of Cognitive Neurology and Dementia Research) ;
Fladby, Tormod (Akershus University Hospital. Department of Neurology.) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Frölich, Lutz (Medical Faculty Mannheim. Department of Geriatric Psychiatry. Central Institute of Mental Health.) ;
García-González, Pablo (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Garcia-Martinez, María (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Giegling, Ina (Medical University of Vienna) ;
Goldhardt, Oliver (Technical University of Munich) ;
Gobom, Johan (Sahlgrenska University Hospital (Suècia)) ;
Grimmer, Timo (Technical University of Munich) ;
Haapasalo, Annakaisa (University of Eastern Finland A.I. Virtanen Institute for Molecular Sciences) ;
Hampel, Harald (Neurology Business Group. Eisai Inc) ;
Hanon, Olivier (Service gériatrie. Centre Mémoire de Ressources et Recherches Ile de France-Broca. AP-HP. Hôpital Broca) ;
Hausner, Lucrezia (Central Institute of Mental Health. Department of Geriatric Psychiatry) ;
Heilmann-Heimbach, Stefanie (Institute of Human Genetics. University of Bonn. School of Medicine and University Hospital Bonn) ;
Helisalmi, Seppo (University of Eastern Finland. Institute of Clinical Medicine) ;
Heneka, Michael (German Center for Neurodegenerative Diseases (DZNE)) ;
Hernández, Isabel (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Herukka, Sanna‑Kaisa (University of Eastern Finland. Department of Neurology. Institute of Clinical Medicine) ;
Holstege, Henne (Vrije Universiteit Amsterdam. Section Genomics of Neurodegenerative Diseases and Aging) ;
Jarholm, Jonas (Akershus University Hospital. Department of Neurology.) ;
Kern, Silke (Sahlgrenska University Hospital. Psychiatry. Cognition and Old Age Psychiatry Clinic) ;
Knapskog, Anne‑Brita (Oslo University Hospital. Department of Geriatric Medicine) ;
Koivisto, A.M. (Department of Neurology. Helsinki University Hospital) ;
Kornhuber, Johannes (Friedrich-Alexander Universität Erlangen-Nürnberg) ;
Kuulasmaa, Teemu (University of Eastern Finland) ;
Lage, Carmen (University of California) ;
Laske, Christoph (University of Tübingen. Hertie Institute for Clinical Brain Research and Department of Psychiatry and Psychotherapy.) ;
Leinonen, Ville (Kuopio University Hospita. Department of Neurosurgery.) ;
Lewczuk, Piotr (Medical University of Białystok. Department of Neurodegeneration Diagnostics.) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
López de Munain, Adolfo (University of The Basque Country) ;
López-Garcia, Sara (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Maier, Wolfgang (University Hospital Bonn. Department of Neurodegenerative Diseases and Geriatric Psychiatry) ;
Marquié, Marta (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Mol, Merel O. (Erasmus Medical Centre. Department of Neurology) ;
Montrreal, Laura (Universitat Internacional de Catalunya. Ace Alzheimer Center Barcelona) ;
Moreno, Fermin (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Moreno-Grau, Sonia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Nicolas, Gael (Normandie Univ. UNIROUEN. Department of Genetics and CNR-MAJ) ;
Nöthen, Markus M. (Institute of Human Genetics. University of Bonn. School of Medicine and University Hospital Bonn) ;
Orellana, Adelina (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Pålhaugen, Lene (Akershus University Hospital. Department of Neurology) ;
Papma, Janne M. (Erasmus MC University Medical Center. Department of Neurology and Alzheimer Center Erasmus MC) ;
Pasquier, Florence (Université Lille) ;
Perneczky, Robert (Imperial College London. Ageing Epidemiology Research Unit) ;
Peters, Oliver (German Center for Neurodegenerative Diseases (DZNE)) ;
Pijnenburg, Yolande A.L. (Amsterdam Neuroscience. Neurodegeneration) ;
Popp, Julius (University Hospital of Lausanne. Department of Psychiatry) ;
Posthuma, Danielle (Vrije Universiteit Amsterdam) ;
Pozueta, Ana (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Priller, Josef (Technical University Munich. Department of Psychiatry and Psychotherapy) ;
Puerta, Raquel (Universitat Internacional de Catalunya. Ace Alzheimer Center Barcelona) ;
Quintela, Inés (Grupo de Medicina Xenómica. Centro Nacional de Genotipado (CEGEN-PRB3-ISCIII). Universidade de Santiago de Compostela) ;
Ramakers, Inez (Maastricht University. Department of Psychiatry and Neuropsychologie) ;
Rodríguez-Rodríguez, Eloy (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Rujescu, Dan (Medical University of Vienna. Department of Psychiatry and Psychotherapy) ;
Saltvedt, Ingvild (University Hospital of Trondheim. Department of Geriatrics) ;
Sánchez-Juan, Pascual (Alzheimer's Centre Reina Sofia-CIEN Foundation-ISCIII) ;
Scheltens, Philip (Amsterdam Neuroscience. Neurodegeneration) ;
Scherbaum, Norbert (University of Duisburg-Essen) ;
Schmid, Matthias (University Hospital of Bonn. Institute of Medical Biometry) ;
Schneider, Anja (German Center for Neurodegenerative Diseases (DZNE)) ;
Selbæk, Geir (Oslo University Hospital.Department of Geriatric Medicine) ;
Selnes, Per (Akershus University Hospital. Department of Neurology) ;
Shadrin, Alexey (University of Oslo and Division of Mental Health. Institute of Clinical Medicine) ;
Skoog, Ingmar (Sahlgrenska University Hospital (Suècia)) ;
Soininen, Hilkka (University of Eastern Finland. Institute of Clinical Medicine.) ;
Tárraga, Lluís (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Teipel, Stefan (Rostock University Medical Center. Department of Psychosomatic Medicine) ;
Tijms, Betty M (Amsterdam Neuroscience. Neurodegeneration) ;
Tsolaki, Magda (Aristotle University of Thessaloniki) ;
Van Broeckhoven, Christine (Neurodegenerative Brain Diseases Group. VIB Center for Molecular Neurology. VIB) ;
Van Dongen, Jasper (University of Antwerp. Department of Biomedical Sciences) ;
van Swieten, John C. (Erasmus MC University Medical Center) ;
Vandenberghe, Rik (Leuven Brain Institute. Department of Neurosciences.) ;
Vidal, Jean‑Sébastien (Université Paris Cité) ;
Visser, Pieter J. (Division of Neurogeriatrics Karolinska Institutet. Department of Neurobiology) ;
Vogelgsang, Jonathan (Harvard Medical School. Department of Psychiatry) ;
Waern, Margda (Sahlgrenska University Hospital (Suècia)) ;
Wagner, Michael (German Center for Neurodegenerative Diseases (DZNE)) ;
Wiltfang, Jens W (Medical Science Department. iBiMED) ;
Wittens, Mandy M.J. (Vrije Universiteit Brussel) ;
Zetterberg, Henrik (Hong Kong Center for Neurodegenerative Diseases) ;
Zulaica, Miren (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
van Duijn, Cornelia M. (Nuffield Department of Population Health. Oxford University) ;
Bjerke, Maria (Universitair Ziekenhuis Brussel) ;
Engelborghs, Sebastiaan (Universitair Ziekenhuis Brussel. Department of Neurology) ;
Jessen, Frank (University of Cologne) ;
Teunissen, Charlotte E. (Vrije Universiteit Amsterdam) ;
Pastor, Pau (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Hiltunen, Mikko (University of Eastern Finland. Institute of Biomedicine) ;
Ingelsson, Martin (University of Toronto. Department of Medicine) ;
Andreassen, Ole A (Oslo University Hospital (Oslo, Noruega)) ;
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Sleegers, Kristel (University of Antwerp. Department of Biomedical Sciences) ;
Ruiz, Agustín (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Ramirez, Alfredo (Department of Psychiatry. Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases) ;
Cruchaga, Carlos (Washington University School of Medicine. Hope Center for Neurological Disorders) ;
Lambert, Jean-Charles (Institut Pasteur de Lille) ;
van der Flier, Wiesje M (Amsterdam Neuroscience. Neurodegeneration) ;
Universitat Autònoma de Barcelona
Amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau) levels in cerebrospinal fluid (CSF) reflect core features of the pathogenesis of Alzheimer's disease (AD) more directly than clinical diagnosis. Initiated by the European Alzheimer & Dementia Biobank (EADB), the largest collaborative effort on genetics underlying CSF biomarkers was established, including 31 cohorts with a total of 13,116 individuals (discovery n = 8074; replication n = 5042 individuals). [...]
2022 - 10.1007/s00401-022-02454-z
Acta Neuropathologica, Vol. 144 Núm. 5 (november 2022) , p. 821-842
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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, 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. 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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23 p, 7.9 MB |
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease
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Holstege, Henne (Delft Bioinformatics Lab, Delft University of Technology) ;
Hulsman, Marc (Delft Bioinformatics Lab, Delft University of Technology) ;
Charbonnier, Camille (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Grenier-Boley, Benjamin (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement) ;
Quenez, Olivier (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Grozeva, Detelina (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
van Rooij, Jeroen G. J. (Erasmus Medical Centre. Department of Internal Medicine) ;
Sims, Rebecca (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
Ahmad, Shahzad (Leiden Academic Centre for Drug Research) ;
Amin, Najaf (Nuffield Department of Population Health Oxford University) ;
Norsworthy, Penny J. (Medical Research Council Prion Unit at University College London, University College London Institute of Prion Diseases) ;
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Hummerich, Holger (Medical Research Council Prion Unit at University College London, University College London Institute of Prion Diseases) ;
Kawalia, Amit (Faculty of Medicine and University Hospital Cologne, University of Cologne. Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy) ;
Amouyel, Philippe (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement) ;
Beecham, Gary W. (The John P. Hussman Institute for Human Genomics, University of Miami) ;
Berr, Claudine (Université Montpellier, INSERM, Institute for Neurosciences of Montpellier) ;
Bis, Joshua C. (University of Washington. Cardiovascular Health Research Unit, Department of Medicine) ;
Boland, Anne (Université Paris-Saclay. Centre National de Recherche en Génomique Humaine) ;
Bossù, Paola (Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia Foundation. Experimental Neuro-psychobiology Laboratory, Department of Clinical and Behavioral Neurology) ;
Bouwman, Femke (Amsterdam Neuroscience, Neurodegeneration) ;
Bras, Jose (Michigan State University College of Human Medicine. Division of Psychiatry and Behavioral Medicine) ;
Campion, Dominique (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Cochran, J. Nicholas (HudsonAlpha Institute for Biotechnology) ;
Daniele, Antonio (Catholic University of Sacred Heart, Fondazione Policlinico Universitario A. Gemelli Istituto di Ricovero e Cura a Carattere Scientifico. Department of Neuroscience) ;
Dartigues, Jean-François (Université Bordeaux, INSERM, Bordeaux Population Health Research Center) ;
Debette, Stéphanie (Bordeaux University Hospital. Department of Neurology) ;
Deleuze, Jean-François (Université Paris-Saclay. Centre National de Recherche en Génomique Humaine) ;
Denning, Nicola (Cardiff University. UKDRI Cardiff, School of Medicine) ;
DeStefano, Anita L. (Boston University School of Medicine. Department of Neurology) ;
Farrer, Lindsay A. (Boston University. Department of Medicine (Biomedical Genetics)) ;
Fernández, Maria Victoria (Washington University School of Medicine. Hope Center for Neurological Disorders) ;
Fox, Nick C. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ;
Galimberti, Daniela (University of Milan) ;
Genin, Emmanuelle (Université Brest, INSERM, Etablissement Français du Sang, Centre Hospitalier Universitaire Brest, Unité Mixte de Recherche 1078, GGB, Brest, France) ;
Gille, Johan J. P. (VU University, AmsterdamUMC (location VUmc). Genome Diagnostics, Department of Human Genetics) ;
Le Guen, Yann (Stanford University. Department of Neurology and Neurological Sciences) ;
Guerreiro, Rita (Michigan State University College of Human Medicine. Division of Psychiatry and Behavioral Medicine) ;
Haines, Jonathan L. (Case Western Reserve University. Department of Epidemiology and Biostatistics) ;
Holmes, Clive (University of Southampton. Clinical and Experimental Science, Faculty of Medicine) ;
Ikram, M. Arfan (Erasmus Medical Centre. Department of Epidemiology) ;
Ikram, M. Kamran (Erasmus Medical Centre. Department of Epidemiology) ;
Jansen, Iris E. (Vrije University. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ;
Kraaij, Robert (Erasmus Medical Centre. Department of Internal Medicine) ;
Lathrop, Marc (McGill University and Genome Quebec Innovation Centre) ;
Lemstra, Afina W. (Amsterdam Neuroscience, Neurodegeneration) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Luckcuck, Lauren (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics) ;
Mannens, Marcel M. A. M. (University of Amsterdam, Amsterdam Reproduction and Development Research Institute. Department of Human Genetics, Amsterdam UMC) ;
Marshall, Rachel (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
Martin, Eden R. (University of Miami. Dr. John T. Macdonald Foundation Department of Human Genetics) ;
Masullo, Carlo (Institute of Neurology, Catholic University of the Sacred Heart) ;
Mayeux, Richard (Columbia University. Gertrude H. Sergievsky Center) ;
Mecocci, Patrizia (University of Perugia. Institute of Gerontology and Geriatrics, Department of Medicine and Surgery) ;
Meggy, Alun (Cardiff University. UKDRI Cardiff, School of Medicine) ;
Mol, Merel O. (Erasmus Medical Centre. Department of Neurology) ;
Morgan, Kevin (University of Nottingham. Human Genetics, School of Life Sciences) ;
Myers, Richard M. (HudsonAlpha Institute for Biotechnology) ;
Nacmias, Benedetta (IRCCS Fondazione Don Carlo Gnocchi) ;
Naj, Adam C. (University of Pennsylvania Perelman School of Medicine. Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine) ;
Napolioni, Valerio (Genomic and Molecular Epidemiology Laboratory, School of Biosciences and Veterinary Medicine, University of Camerino) ;
Pasquier, Florence (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, UMR1172, Resources and Research Memory Center (MRRC) of Distalz, Licend) ;
Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Pericak-Vance, Margaret A. (University of Miami. Dr. John T. Macdonald Foundation Department of Human Genetics) ;
Raybould, Rachel (Cardiff University. UKDRI Cardiff, School of Medicine) ;
Redon, Richard (Université de Nantes, Centre Hospitalier Universitaire Nantes, Centre National de la Recherche Scientifique, INSERM, l'institut du Thorax) ;
Reinders, Marcel J. T. (Delft Bioinformatics Lab, Delft University of Technology) ;
Richard, Anne-Claire (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Riedel-Heller, Steffi G. (Institute of Social Medicine, Occupational Health and Public Health, University of Leipzig) ;
Rivadeneira, Fernando (Erasmus Medical Centre. Department of Internal Medicine) ;
Rousseau, Stéphane (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Ryan, Natalie S. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ;
Saad, Salha (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
Sánchez-Juan, Pascual (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Schellenberg, Gerard D. (University of Pennsylvania Perelman School of Medicine. Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine) ;
Scheltens, Philip (Amsterdam Neuroscience, Neurodegeneration) ;
Schott, Jonathan M. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ;
Seripa, Davide (Laboratory for Advanced Hematological Diagnostics, Department of Hematology and Stem Cell Transplant, Lecce, Italy) ;
Seshadri, Sudha (Department of Psychiatry and Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, San Antonio, TX USA) ;
Sie, Daoud (VU University, AmsterdamUMC (location VUmc). Genome Diagnostics, Department of Human Genetics) ;
Sistermans, Erik A. (VU University, AmsterdamUMC (location VUmc). Genome Diagnostics, Department of Human Genetics) ;
Sorbi, Sandro (IRCCS Fondazione Don Carlo Gnocchi) ;
van Spaendonk, Resie (VU University, AmsterdamUMC (location VUmc). Genome Diagnostics, Department of Human Genetics) ;
Spalletta, Gianfranco (Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia Foundation. Laboratory of Neuropsychiatry, Department of Clinical and Behavioral Neurology) ;
Tesi, Niccolo (Delft Bioinformatics Lab, Delft University of Technology) ;
Tijms, Betty (Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc. Alzheimer Center Amsterdam, Neurology) ;
Uitterlinden, André G. (Erasmus Medical Centre. Department of Internal Medicine) ;
van der Lee, Sven J. (Delft Bioinformatics Lab, Delft University of Technology) ;
Visser, Pieter Jelle (Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc. Alzheimer Center Amsterdam, Neurology) ;
Wagner, Michael (German Center for Neurodegenerative Diseases) ;
Wallon, David (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Neurology and CNRMAJ) ;
Wang, Li-San (University of Pennsylvania Perelman School of Medicine. Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine) ;
Zarea, Aline (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Neurology and CNRMAJ) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
van Swieten, John C. (Erasmus Medical Centre. Department of Neurology) ;
Greicius, Michael D. (Stanford University. Department of Neurology and Neurological Sciences) ;
Yokoyama, Jennifer S. (University of California. Memory and Aging Center, Department of Neurology) ;
Cruchaga, Carlos (Washington University School of Medicine. Hope Center for Neurological Disorders) ;
Hardy, John (University College London Institute of Neurology. Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience) ;
Ramirez, Alfredo (University of Cologne. Cluster of Excellence Cellular Stress Responses in Aging-Associated Diseases) ;
Mead, Simon (University College London. Institute of Prion Diseases) ;
van der Flier, Wiesje M. (Amsterdam Neuroscience, Neurodegeneration) ;
van Duijn, Cornelia M. (Nuffield Department of Population Health Oxford University) ;
Williams, Julie (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
Nicolas, Gaël (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Bellenguez, Céline (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement) ;
Lambert, Jean-Charles (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement) ;
Universitat Autònoma de Barcelona
Alzheimer's disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70% . The genetic component of AD has been mainly assessed using genome-wide association studies, which do not capture the risk contributed by rare variants . [...]
2022 - 10.1038/s41588-022-01208-7
Nature genetics, Vol. 54 (november 2022) , p. 1786-1794
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6.
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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 Luis (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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7.
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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 E (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) ;
Molinuevo, 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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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 Luis (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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