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TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer's disease biomarker levels
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Hong, S. (Lübeck Interdisciplinary Platform for Genome Analytics (LIGA). University of Lübeck) ;
Dobricic, Valerija (Lübeck Interdisciplinary Platform for Genome Analytics (LIGA). University of Lübeck) ;
Ohlei, O. (Lübeck Interdisciplinary Platform for Genome Analytics (LIGA). University of Lübeck) ;
Bos, I. (Alzheimer Center Amsterdam. Department of Neurology. Amsterdam Neuroscience. Vrije Universiteit Amsterdam) ;
Vos, S.J.B. (Alzheimer Center Amsterdam. Department of Neurology. Amsterdam Neuroscience. Vrije Universiteit Amsterdam) ;
Prokopenko, D. (Genetics and Aging Unit and McCance Center for Brain Health. Department of Neurology. Massachusetts General Hospital) ;
Tijms, B.M. (Alzheimer Center Amsterdam. Department of Neurology. Amsterdam Neuroscience. Vrije Universiteit Amsterdam) ;
Andreasson, U. (Clinical Neurochemistry Laboratory. Sahlgrenska University Hospital) ;
Blennow, K. (Clinical Neurochemistry Laboratory. Sahlgrenska University Hospital) ;
Vandenberghe, R. (Neurology Service. University Hospital Leuven) ;
Gabel, Silvy (Laboratory for Cognitive Neurology. Department of Neurosciences. KU Leuven) ;
Scheltens, P. (Alzheimer Center Amsterdam. Department of Neurology. Amsterdam Neuroscience. Vrije Universiteit Amsterdam) ;
Teunissen, C.E. (Neurochemistry Laboratory. Department of Clinical Chemistry. Amsterdam Neuroscience. Amsterdam University Medical Centers. Vrije Universiteit) ;
Engelborghs, S. (Department of Neurology and Center for Neurosciences. UZ Brussel and Vrije Universiteit Brussel (VUB)) ;
Frisoni, G. (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Blin, O. (AIX Marseille University. INS. Ap-hm) ;
Richardson, J.C. (Neurosciences Therapeutic Area. GlaxoSmithKline R&D) ;
Bordet, R. (Inserm. CHU Lille. University of Lille) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
Popp, J. (Old Age Psychiatry. Department of Psychiatry. University Hospital of Lausanne) ;
Clark, C. (Centre for Gerontopsychiatric Medicine. Department of Geriatric Psychiatry. University Hospital of Psychiatry Zurich) ;
Peyratout, G. (Old Age Psychiatry. Department of Psychiatry. University Hospital of Lausanne) ;
Martinez-Lage, P. (Department of Neurology. Center for Research and Advanced Therapies. CITA-Alzheimer Foundation) ;
Tainta, M. (Department of Neurology. Center for Research and Advanced Therapies. CITA-Alzheimer Foundation) ;
Dobson, R.J.B. (The National Institute for Health Research University College London Hospitals Biomedical Research Centre. University College London) ;
Legido-Quigley, C. (Steno Diabetes Center. Copenhagen. Denmark and Institute of Pharmaceutical Sciences. King's College London) ;
Sleegers, K. (Department of Biomedical Sciences. University of Antwerp) ;
Van Broeckhoven, C. (Department of Biomedical Sciences. University of Antwerp) ;
Tanzi, R.E. (Genetics and Aging Unit and McCance Center for Brain Health. Department of Neurology. Massachusetts General Hospital) ;
ten Kate, M. (Department of Radiology and Nuclear Medicine. Amsterdam University Medical Centers. Amsterdam Neuroscience) ;
Wittig, M. (Institute of Clinical Molecular Biology. Christian-Albrechts-University of Kiel) ;
Franke, A. (Institute of Clinical Molecular Biology. Christian-Albrechts-University of Kiel) ;
Lill, C.M. (Ageing Epidemiology Research Unit. School of Public Health. Imperial College) ;
Barkhof, F. (Institutes of Neurology and Healthcare Engineering. University College London) ;
Lovestone, Simon (Department of Psychiatry. University of Oxford) ;
Streffer, J. (Translational Medicine Neuroscience. UCB Biopharma SPRL. Braine l'Alleud) ;
Zetterberg, H. (UCL Institute of Neurology (Regne Unit). UK Dementia Research Institute) ;
Visser, P.J. (Department of Neurobiology. Care Sciences and Society. Division of Neurogeriatrics. Karolinska Instutet) ;
Bertram, L. (Department of Psychology. University of Oslo)
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, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, Centre National de Recherche en Génomique Humaine Evry) ;
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, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, Centre National de Recherche en Génomique Humaine Evry) ;
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, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
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 Mutua de Terrassa. Memory Disorders Unit, Department of Neurology) ;
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 (Neurology Service, Marqués de Valdecilla University Hospital (University of Cantabria and IDIVAL)) ;
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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15 p, 2.1 MB |
Sex-specific metabolic pathways were associated with alzheimer's disease (Ad) endophenotypes in the european medical information framework for ad multimodal biomarker discovery cohort
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Xu, J. (King's College London) ;
Green, R. (King's College London) ;
Kim, M. (Steno Diabetes Center) ;
Lord, J. (King's College London) ;
Ebshiana, A. (King's College London) ;
Westwood, S. (Department of Psychiatry. University of Oxford) ;
Baird, A. L. (Department of Psychiatry. University of Oxford) ;
Nevado-Holgado, Alejo (Department of Psychiatry. University of Oxford) ;
Shi, L. (Department of Psychiatry. University of Oxford) ;
Hye, Abdul (King's College London) ;
Snowden, S. G. (King's College London) ;
Bos, I. (Amsterdam UMC. University Medical Center) ;
Vos, S. J. B. (Maastricht University) ;
Vandenberghe, R. (Alzheimer Center. VU University Medical Center) ;
Teunissen, C. E. (Department of Radiology and Nuclear Medicine. VU University Medical Center) ;
Kate, M. T. (Department of Radiology and Nuclear Medicine. VU University Medical Center) ;
Scheltens, P. (Alzheimer Center. VU University Medical Center) ;
Gabel, Silvy (University Hospitals Leuven (Bèlgica)) ;
Meersmans, K. (University Hospitals Leuven (Bèlgica)) ;
Blin, Olivier (Clinical Pharmacology & Pharmacovigilance Department. Aix-Marseille University-CNRS) ;
Richardson, J. (Neurosciences Therapeutic Area. GlaxoSmithKline R&D) ;
De Roeck, E. E. (Reference Center for Biological Markers of Dementia (BIODEM). Institute Born-Bunge. University of Antwerp) ;
Engelborghs, S. (Reference Center for Biological Markers of Dementia (BIODEM). Institute Born-Bunge. University of Antwerp) ;
Sleegers, K. (Complex Genetics of Alzheimer's Disease Group. VIB Center for Molecular Neurology. VIB) ;
Bordet, Régis (Department of Medical Pharmacology. Université de Lille) ;
Rami, L. (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Kettunen, Petronella (Institute of Neuroscience and Physiology. Sahlgrenska Academy. University of Gothenburg) ;
Tsolaki, M. (AHEPA University Hospital (Grècia)) ;
Verhey, F. R. J. (Department of Psychiatry and Neuropsychology. School for Mental Health and Neuroscience. Alzheimer Centrum Limburg. Maastricht University) ;
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Peyratout, G. (Lausanne University Hospital) ;
Tainta, Mikel (Fundación CITA-Alzhéimer Fundazioa) ;
Johannsen, P. (Danish Dementia Research Centre. Rigshospitalet) ;
Freund-Levi, Y. (King's College London) ;
Frölich, L. (Department of Geriatric Psychiatry. Central Institute of Mental Health. Medical Faculty Mannheim. University of Heidelberg) ;
Dobricic, Valerija (Lübeck Interdisciplinary Platform for Genome Analytics. Institutes of Neurogenetics and Cardiogenetics. University of Lübeck) ;
Frisoni, G. B. (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Molinuevo, J. L. (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Wallin, A. (Institute of Neuroscience and Physiology. Sahlgrenska Academy. University of Gothenburg) ;
Popp, J. (Department of Geriatric Psychiatry. University Hospital of Psychiatry Zürich) ;
Martinez-Lage, P. (Center for Research and Advanced Therapies. CITA-Alzheimer Foundation) ;
Bertram, L. (Department of Psychology. University of Oslo) ;
Blennow, K. (Department of Psychiatry and Neurochemistry. Institute of Neuroscience and Physiology. Sahlgrenska Academy. University of Gothenburg) ;
Zetterberg, Henrik (Department of Neurodegenerative Disease. UCL Institute of Neurology) ;
Streffer, J. (Reference Center for Biological Markers of Dementia (BIODEM). Institute Born-Bunge. University of Antwerp) ;
Jelle Visser, P. (Department of Psychiatry and Neuropsychology. School for Mental Health and Neuroscience. Alzheimer Centrum Limburg. Maastricht University) ;
Lovestone, Simon (Janssen-Cilag UK Ltd.) ;
Proitsi, P. (King's College London) ;
Legido-Quigley, C. (Steno Diabetes Center) ;
Universitat Autònoma de Barcelona
Background: physiological differences between males and females could contribute to the development of Alzheimer's Disease (AD). Here, we examined metabolic pathways that may lead to precision medicine initiatives. [...]
2021 - 10.3390/biomedicines9111610
Biomedicines, Vol. 9 Núm. 11 (november 2021) , p. 1610
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