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12 p, 1.2 MB |
Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis
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Gao, Yixin (Xuzhou Medical University) ;
Wang, Ting (Xuzhou Medical University) ;
Yu, Xinghao (Xuzhou Medical University) ;
Ferrari, Raffaele (Russell Square House) ;
Hernandez, Dena G. (Queen Square) ;
Nalls, Michael A. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Rohrer, Jonathan D. (Queen Square) ;
Ramasamy, Adaikalavan (University of Oxford) ;
Kwok, John B.J. (University of New South Wales) ;
Dobson-Stone, Carol (University of New South Wales) ;
Brooks, William S. (University of New South Wales) ;
Schofield, Peter R. (Neuroscience Research Australia) ;
Halliday, Glenda M. (Neuroscience Research Australia) ;
Hodges, John R. (Neuroscience Research Australia) ;
Piguet, Olivier (Neuroscience Research Australia) ;
Bartley, Lauren (Neuroscience Research Australia) ;
Thompson, Elizabeth (University of Adelaide) ;
Haan, Eric (University of Adelaide) ;
Hernández, Isabel (Institut Català de Neurociéncies Aplicades) ;
Ruiz, Agustín (Institut Català de Neurociéncies Aplicades) ;
Boada, Mercè (Institut Català de Neurociéncies Aplicades) ;
Borroni, Barbara (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Cruchaga, Carlos (Washington University School of Medicine) ;
Cairns, Nigel J. (Washington University) ;
Benussi, Luisa (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Binetti, Giuliano (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Ghidoni, Roberta (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Forloni, Gianluigi (IRCCS Istituto di Ricerche Farmacologiche. "Mario Negri") ;
Albani, Diego (IRCCS Istituto di Ricerche Farmacologiche. "Mario Negri") ;
Galimberti, Daniela (IRCCS Ospedale Maggiore Policlinico) ;
Fenoglio, Chiara (IRCCS Ospedale Maggiore Policlinico) ;
Serpente, Maria (IRCCS Ospedale Maggiore Policlinico) ;
Scarpini, Elio (University of Milan) ;
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ;
Waldö, Maria Landqvist (Lund University) ;
Nilsson, Karin (Lund University) ;
Nilsson, Christer (Lund University) ;
Mackenzie, Ian R.A. (University of British Columbia) ;
Hsiung, Ging-Yuek R. (University of British Columbia) ;
Mann, David M. A. (Salford Royal Hospital) ;
Grafman, Jordan (Northwestern University) ;
Morris, Christopher M. (Newcastle University) ;
Attems, Johannes (Newcastle University) ;
Griffiths, Timothy D. (Newcastle University Medical School) ;
McKeith, Ian G. (Newcastle University) ;
Thomas, Alan J. (Newcastle University) ;
Pietrini, Pietro (IMT School for Advanced Studies) ;
Huey, Edward D. (Columbia University) ;
Wassermann, Eric M. (National Insititutes of Health) ;
Baborie, Atik (University of Alberta Edmonton) ;
Jaros, Evelyn (Newcastle University) ;
Tierney, Michael C. (National Insititutes of Health) ;
Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Razquin, Cristina (Universidad de Navarra) ;
Ortega-Cubero, Sara (Universidad de Navarra) ;
Alonso, Elena (Universidad de Navarra) ;
Perneczky, Robert (West London Mental Health Trust) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Alexopoulos, Panagiotis (Technische Universität München) ;
Kurz, Alexander (Technische Universität München) ;
Rainero, Innocenzo (A.O. Città della Salute e della Scienza di Torino) ;
Rubino, Elisa (A.O. Città della Salute e della Scienza di Torino) ;
Pinessi, Lorenzo (A.O. Città della Salute e della Scienza di Torino) ;
Rogaeva, Ekaterina (University of Toronto) ;
St George Hyslop, Peter (University of Cambridge) ;
Rossi, Giacomina (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Tagliavini, Fabrizio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Giaccone, Giorgio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Rowe, James B. (Behavioural and Clinical Neuroscience Institute) ;
Schlachetzki, Johannes C. M. (University of California San Diego) ;
Uphill, James (University College London. Institute of Neurology) ;
Collinge, John (University College London. Institute of Neurology) ;
Mead, Simon (University College London. Institute of Neurology) ;
Danek, Adrian (German Center for Neurodegenerative Diseases (DZNE)) ;
Van Deerlin, Vivianna M. (University of Pennsylvania Perelman School of Medicine) ;
Grossman, Murray (University of Pennsylvania Perelman School of Medicine) ;
Trojanowski, John Q. (University of Pennsylvania Perelman School of Medicine) ;
van der Zee, Julie (University of Antwerp) ;
Cruts, Marc (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Cappa, Stefano F. (Vita-Salute University and San Raffaele Scientific Institute) ;
Leber, Isabelle (CNRS UMR 7225) ;
Hannequin, Didier (Rouen University Hospital (França)) ;
Golfier, Véronique (CH Saint Brieuc) ;
Vercelletto, Martine (CHU Nantes) ;
Brice, Alexis (AP-HP. Hôpital de la Salpêtrière) ;
Nacmias, Benedetta (University of Florence) ;
Sorbi, Sandro (University of Florence and IRCCS "Don Carlo Gnocchi" Firenze) ;
Bagnoli, Silvia (University of Florence) ;
Piaceri, Irene (University of Florence) ;
Nielsen, Jørgen E. (Copenhagen University Hospital) ;
Hjermind, Lena E. (University of Copenhagen) ;
Riemenschneider, Matthias (Saarland University) ;
Mayhaus, Manuel (Saarland University) ;
Ibach, Bernd (University Regensburg) ;
Gasparoni, Gilles (Saarland University) ;
Pichler, Sabrina (Saarland University) ;
Gu, Wei (University of Luxembourg) ;
Rossor, Martin N. (Queen Square) ;
Fox, Nick C. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ;
Warren, Jason D. (Queen Square) ;
Spillantini, Maria Grazia (University of Cambridge) ;
Morris, Huw R. (Russell Square House) ;
Rizzu, Patrizia (German Center for Neurodegenerative Diseases-Tübingen) ;
Heutink, Peter (German Center for Neurodegenerative Diseases-Tübingen) ;
Snowden, Julie S. (University of Manchester) ;
Rollinson, Sara (University of Manchester) ;
Richardson, Anna (University of Manchester) ;
Gerhard, Alexander (The University of Manchester) ;
Bruni, Amalia C. (ASPCZ) ;
Maletta, Raffaele (ASPCZ) ;
Frangipane, Francesca (ASPCZ) ;
Cupidi, Chiara (ASPCZ) ;
Bernardi, Livia (ASPCZ) ;
Anfossi, Maria (ASPCZ) ;
Gallo, Maura (ASPCZ) ;
Conidi, Maria Elena (ASPCZ) ;
Smirne, Nicoletta (ASPCZ) ;
Rademakers, Rosa (Mayo Clinic Jacksonville) ;
Baker, Matt (Mayo Clinic Jacksonville) ;
Dickson, Dennis W. (Mayo Clinic Jacksonville) ;
Graff-Radford, Neill R. (Mayo Clinic Jacksonville) ;
Petersen, Ronald C. (Mayo Clinic Rochester) ;
Knopman, David (Mayo Clinic Rochester) ;
Josephs, Keith A. (Mayo Clinic Rochester) ;
Boeve, Bradley (Mayo Clinic Rochester) ;
Parisi, Joseph E. (Mayo Clinic Rochester) ;
Seeley, William W. (University of California) ;
Miller, Bruce L. (University of California) ;
Karydas, Anna M. (University of California) ;
Rosen, Howard (University of California) ;
van Swieten, John C. (VU University Medical Centre) ;
Dopper, Elise G. P. (Erasmus Medical Centre) ;
Seelaar, Harro (Erasmus Medical Centre) ;
Pijnenburg, Yolande A. L. (VU University Medical Centre) ;
Scheltens, Philip (VU University Medical Centre) ;
Logroscino, Giancarlo (University of Bari) ;
Capozzo, Rosa (University of Bari) ;
Novelli, Valeria (Fondazione Policlinico Universitario A. Gemelli) ;
Puca, Annibale A. (University of Salerno) ;
Franceschi, Massimo (IRCCS Multimedica) ;
Postiglione, Alfredo (University of Naples Federico II) ;
Milan, Graziella (Geriatric Center Frullone- ASL Napoli 1 Centro) ;
Sorrentino, Paolo (Geriatric Center Frullone- ASL Napoli 1 Centro) ;
Kristiansen, Mark (Institute of Child Health (ICH)) ;
Chiang, Huei-Hsin (Karolinska University Hospital and Karolinska Institutet (Suecia)) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suecia)) ;
Pasquier, Florence (Univ Lille) ;
Rollin, Adeline (Univ Lille) ;
Deramecourt, Vincent (Univ Lille) ;
Lebouvier, Thibaud (Univ Lille) ;
Kapogiannis, Dimitrios (National Institute on Aging (NIA/NIH)) ;
Ferrucci, Luigi (National Institute on Aging (Baltimore, Estats Units d'Amèrica)) ;
Pickering-Brown, S. (University of Manchester) ;
Singleton, Andrew B. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Hardy, John (Russell Square House) ;
Momeni, Parastoo (Texas Tech University Health Science Center) ;
Zhao, Huashuo (Xuzhou Medical University) ;
Zeng, Ping (Xuzhou Medical University) ;
Universitat Autònoma de Barcelona
We employed Mendelian randomization (MR) to evaluate the causal relationship between leukocyte telomere length (LTL) and amyotrophic lateral sclerosis (ALS) with summary statistics from genome-wide association studies (n = ~ 38,000 for LTL and ~ 81,000 for ALS in the European population; n = ~ 23,000 for LTL and ~ 4,100 for ALS in the Asian population). [...]
2020 -  10.1038/s41598-020-68848-9
Scientific reports, Vol. 10 Núm. 1 (january 2020) , p. 12184
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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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12 p, 2.0 MB |
A multicentre validation study of the diagnostic value of plasma neurofilament light
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Ashton, Nicholas J. (NIHR Biomedical Research Centre for Mental Health (Londres, Regne Unit)) ;
Janelidze, Shorena (Clinical Memory Research Unit. Department of Clinical Sciences Malmö. Lund University) ;
Al Khleifat, Ahmad (Department of Basic and Clinical Neuroscience. Maurice Wohl Clinical Neuroscience Institute. King's College London) ;
Leuzy, Antoine (Clinical Memory Research Unit. Department of Clinical Sciences Malmö. Lund University) ;
van der Ende, Emma L. (Alzheimer Center Rotterdam and Dept. of Neurology. Erasmus University Medical Center) ;
Karikari, Thomas K (Department of Psychiatry and Neurochemistry. Institute of Neuroscience & Physiology. The Sahlgrenska Academy at the University of Gothenburg) ;
Benedet, AndreaL. (Montreal Neurological Institute) ;
Pascoal, Tharick A. (Montreal Neurological Institute) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Parnetti, Lucilla (Laboratory of Clinical Neurochemistry. Neurology Clinic. University of Perugia) ;
Galimberti, Daniela (University of Milan) ;
Bonanni, Laura (Department of Neuroscience. Imaging and Clinical Sciences. University G.d'Annunzio of Chieti-Pescara) ;
Pilotto, Andrea (Parkinson's Disease Rehabilitation Centre. FERB ONLUS) ;
Padovani, Alessandro (Neurology Unit. Department of Clinical and Experimental Sciences. University of Brescia) ;
Lycke, Jan (Sahlgrenska University Hospital (Suècia)) ;
Novakova, Lenka (Sahlgrenska University Hospital (Suècia)) ;
Axelsson, Markus (Sahlgrenska University Hospital (Suècia)) ;
Velayudhan, Latha (Department of Health Sciences. University of Leicester) ;
Rabinovici, Gil D. (Department of Radiology & Biomedical Imaging. University of California) ;
Miller, Bruce L. (University of California San Francisco. Memory and Aging Center) ;
Pariante, Carmine M (Stress. Psychiatry and Immunology Lab & Perinatal Psychiatry. Maurice Wohl Clinical Neuroscience Institute. King's College London) ;
Nikkheslat, Naghmeh (King's College London (Regne Unit)) ;
Resnick, Susan M. (Brain Aging and Behavior Section. Laboratory of Behavioral Neuroscience. National Institute on Aging. National Institutes of Health) ;
Thambisetty, Madhav (Clinical and Translational Neuroscience Section. Laboratory of Behavioral Neuroscience. National Institute on Aging. National Institutes of Health) ;
Schöll, Michael (Department of Neurodegenerative Disease. Queen Square Institute of Neurology. University College London) ;
Fernández-Eulate, Gorka (Department of Neurology. Donostia University Hospital. Osakidetza) ;
Gil-Bea, Francisco J. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
López de Munain, Adolfo (Universidad del País Vasco. Departamento de Neurociencias) ;
Al-Chalabi, Ammar (King's College Hospital NHS Foundation Trust) ;
Rosa-Neto, Pedro (Montreal Neurological Institute) ;
Strydom, Andre (London Down Syndrome Consortium (LonDowns)) ;
Svenningsson, Per (Karolinska Institutet (Estocolm, Suècia). Department of Clinical Neuroscience) ;
Stomrud, Erik (Skåne University Hospital (Suècia)) ;
Santillo, Alexander (Lund University. Department of Clinical Sciences Malmö) ;
Aarsland, Dag (Stavanger University Hospital) ;
van Swieten, John C. (Erasmus University Medical Center) ;
Palmqvist, Sebastian (Lund University. Skåne University Hospital) ;
Zetterberg, Henrik (University College London. UK Dementia Research Institute) ;
Blennow, Kaj (Sahlgrenska University Hospital (Suècia)) ;
Hye, Abdul (Stavanger University Hospital) ;
Hansson, Oskar (Skåne University Hospital (Suècia))
Increased cerebrospinal fluid neurofilament light (NfL) is a recognized biomarker for neurodegeneration that can also be assessed in blood. Here, we investigate plasma NfL as a marker of neurodegeneration in 13 neurodegenerative disorders, Down syndrome, depression and cognitively unimpaired controls from two multicenter cohorts: King's College London (n = 805) and the Swedish BioFINDER study (n = 1,464). [...]
2021 - 10.1038/s41467-021-23620-z
Nature communications, Vol. 12 Núm. 1 (january 2021) , p. 3400
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5 p, 501.6 KB |
CSF sTREM2 is elevated in a subset in GRN-related frontotemporal dementia
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van der Ende, Emma L (Alzheimer Center Rotterdam and Dept. of Neurology. Erasmus University Medical Center) ;
Morenas-Rodriguez, Estrella (Ludwig-Maximilians-Universität München) ;
McMillan, Corey T. (Penn Frontotemporal Degeneration Center. University of Pennsylvania Perelman School of Medicine) ;
Grossman, Murray (Penn Frontotemporal Degeneration Center. University of Pennsylvania Perelman School of Medicine) ;
Irwin, David J. (Penn Frontotemporal Degeneration Center. University of Pennsylvania Perelman School of Medicine) ;
Sanchez-Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Graff, Caroline (Unit of Hereditary Dementia. Theme Aging. Karolinska University Hospital-Solna) ;
Vandenberghe, Rik (Laboratory for Cognitive Neurology. Department of Neurosciences. Leuven Brain Institute) ;
Pijnenburg, Yolande (Alzheimer Center Amsterdam. Department of Neurology. Amsterdam Neuroscience. Vrije Universiteit Amsterdam) ;
Laforce, Robert Jr (Clinique Interdisciplinaire de Mémoire du CHU de Québec. département des Sciences Neurologiques. Université Laval) ;
Le Ber, Isabelle (Sorbonne Université. Paris Brain Institute. Institut du Cerveau. ICM. Inserm U1127. CNRS UMR 7225. APHP. Hôpital Pitié-Salpêtrière) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Haass, Christian (Munich Cluster for Systems Neurology (SyNergy)) ;
Suárez-Calvet, Marc (German Center for Neurodegenerative Diseases (DZNE) Munich) ;
van Swieten, John Cornelis (Alzheimer Center Rotterdam and Dept. of Neurology. Erasmus University Medical Center) ;
Seelaar, Harro (Alzheimer Center Rotterdam and Dept. of Neurology. Erasmus University Medical Center)
Excessive microglial activation might be a central pathological process in GRN-related frontotemporal dementia (FTD-GRN). We measured soluble triggering receptor expressed on myeloid cells 2 (sTREM2), which is shed from disease-associated microglia following cleavage of TREM2, in cerebrospinal fluid of 34 presymptomatic and 35 symptomatic GRN mutation carriers, 6 presymptomatic and 32 symptomatic C9orf72 mutation carriers and 67 healthy noncarriers by ELISA. [...]
2021 - 10.1016/j.neurobiolaging.2021.02.024
Neurobiology of Aging, Vol. 103 (july 2021) , p. 158.e1-158.e5
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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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18 p, 2.0 MB |
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics
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Nicolas, Gaël (Normandie University) ;
Sévigny, Myriam (Laval University) ;
Lecoquierre, François (Normandie University) ;
Marguet, Florent (Normandie University) ;
Deschênes, Andréanne (Laval University) ;
del Pelaez, Maria Carment (Laval University) ;
Feuillette, Sébastien (Normandie University) ;
Audebrand, Anaïs (Laval University) ;
Lecourtois, Magalie (Normandie University) ;
Rousseau, Stéphane (Normandie University) ;
Richard, Anne-Claire (Normandie University) ;
Cassinari, Kévin (Normandie University) ;
Deramecourt, Vincent (University of Lille) ;
Duyckaerts, Charles (Hôpital de la Pitié-Salpêtrière) ;
Boland, Anne (Université Paris-Saclay) ;
Deleuze, Jean-François (Université Paris-Saclay) ;
Meyer, Vincent (Université Paris-Saclay) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Gelpi, Ellen (Medical University of Vienna) ;
Akiyama, Haruhiko (Tokyo Metropolitan Institute of Medical Science) ;
Hasegawa, Masato (Tokyo Metropolitan Institute of Medical Science) ;
Kawakami, Ito (Tokyo Metropolitan Institute of Medical Science) ;
Wong, Tsz H. (Erasmus Medical Center) ;
Van Rooij, Jeroen G. J. (Erasmus Medical Center) ;
Van Swieten, John C. (Erasmus Medical Center) ;
Campion, Dominique (Normandie University) ;
Dutchak, Paul A. (Laval University) ;
Wallon, David (Normandie University) ;
Lavoie-Cardinal, Flavie (Laval University) ;
Laquerrière, Annie (Normandie University) ;
Rovelet-Lecrux, Anne (Normandie University) ;
Sephton, Chantelle F. (Laval University) ;
Universitat Autònoma de Barcelona
Frontotemporal dementia (FTD) is a heterogeneous clinical disorder characterized by progressive abnormalities in behavior, executive functions, personality, language and/or motricity. A neuropathological subtype of FTD, frontotem‑poral lobar degeneration (FTLD)-FET, is characterized by protein aggregates consisting of the RNA-binding protein fused in sarcoma (FUS). [...]
2022 - 10.1186/s40478-022-01314-x
Acta neuropathologica communications, Vol. 10 (february 2022)
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15 p, 570.6 KB |
C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts
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Costa, Beatrice ;
Manzoni, Claudia ;
Bernal-Quiros, Manuel ;
Kia, Demis A. ;
Aguilar Barberà, Miquel ;
Alvarez, Ignacio ;
Alvarez, Victoria ;
Andreassen, Ole A. ;
Anfossi, Maria ;
Bagnoli, Silvia ;
Benussi, Luisa ;
Bernardi, Livia ;
Binetti, Giuliano ;
Blackburn, Daniel ;
Boada, Mercè ;
Borroni, Barbara ;
Bowns, Lucy ;
Bråthen, Geir ;
Bruni, Amalia ;
Chiang, Huei-Hsin ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Colville, Shuna ;
Conidi, Maria E. ;
Cope, Tom E. ;
Cruchaga, Carlos ;
Cupidi, Chiara ;
Di Battista, Maria Elena ;
Diehl-Schmid, Janine ;
Diez-Fairen, Monica ;
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Durante, Elisabetta ;
Flisar, Dušan ;
Frangipane, Francesca ;
Galimberti, Daniela ;
Gallo, Maura ;
Gallucci, Maurizio ;
Ghidoni, Roberta ;
Graff, Caroline ;
Grafman, Jordan H. ;
Grossman, Murray ;
Hardy, John ;
Hernández, Isabel ;
Holloway, Guy J. T. ;
Huey, Edward D. ;
Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ;
Karydas, Anna ;
Khoshnood, Behzad ;
Kramberger, Milica G. ;
Kristiansen, Mark ;
Lewis, Patrick ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Madhan, Gaganjit K. ;
Maletta, Raffaele ;
Maver, Aleš ;
Menendez-Gonzalez, Manuel ;
Milan, Graziella ;
Miller, Bruce L. ;
Mol, Merel O. ;
Momeni, Parastoo ;
Moreno-Grau, Sonia ;
Morris, Chris M. ;
Nacmias, Benedetta ;
Nilsson, Christer ;
Novelli, Valeria ;
Öijerstedt, Linn ;
Padovani, Alessandro ;
Pal, Suvankar ;
Panchbhaya, Yasmin ;
Pastor, Pau ;
Peterlin, Borut ;
Piaceri, Irene ;
Pickering-Brown, S. ;
Pijnenburg, Yolande ;
Puca, Annibale A. ;
Rainero, Innocenzo ;
Rendina, Antonella ;
Richardson, Anna M. T. ;
Rogaeva, Ekaterina ;
Rogelj, Boris ;
Rollinson, Sara ;
Rossi, Giacomina ;
Rossmeier, Carola ;
Rowe, James B. ;
Rubino, Elisa ;
Ruiz, Agustín ;
Sanchez-Valle, Raquel ;
Sando, Sigrid B. ;
Santillo, Alexander F. ;
Saxon, Jennifer ;
Scarpini, Elio ;
Serpente, Maria ;
Smirne, Nicoletta ;
Sorbi, Sandro ;
Suh, EunRan ;
Tagliavini, Fabrizio ;
Thompson, Jennifer C. ;
Trojanowski, John Q. ;
Van Deerlin, Vivianna M. ;
Van der Zee, Julie ;
Van Broeckhoven, Christine ;
van Rooij, Jeroen ;
Van Swieten, John C. ;
Veronesi, Arianna ;
Vitale, Emilia ;
Waldö, Maria L. ;
Woodward, Cathy ;
Yokoyama, Jennifer ;
Escott-Price, Valentina ;
Polke, James M. ;
Ferrari, Raffaele ;
Universitat Autònoma de Barcelona
We sought to characterize C9orf72 expansions in relation to genetic ancestry and age at onset (AAO) and to use these measures to discriminate the behavioral from the language variant syndrome in a large pan-European cohort of frontotemporal lobar degeneration (FTLD) cases. [...]
2020 - 10.1212/WNL.0000000000010914
Neurology, Vol. 95 (december 2020) , p. e3288-e3302
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13 p, 722.8 KB |
A C6orf10 / LOC101929163 locus is associated with age of onset in C9orf72 carriers
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Zhang, Ming (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Ferrari, Raffaele (University College London. Institute of Neurology) ;
Tartaglia, Maria Carmela (Department of Medicine, Division of Neurology, University of Toronto, Toronto, ON, Canada) ;
Keith, Julia (Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, Canada) ;
Surace, Ezequiel I (Instituto de Investigaciones Neurológicas Dr. Raúl Carrea (Buenos Aires, Argentina)) ;
Wolf, Uri (University of Toronto. Department of Psychiatry) ;
Sato, Christine (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Grinberg, Mark (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Liang, Yan (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Xi, Zhengrui (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Dupont, Kyle (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
McGoldrick, Philip (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Weichert, Anna (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
McKeever, Paul M. (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Schneider, Raphael (Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, Canada) ;
McCorkindale, Michael D. (University College London. Institute of Neurology) ;
Manzoni, Claudia (School of Pharmacy, University of Reading, Whiteknights, Reading, UK) ;
Rademakers, Rosa (Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA) ;
Graff-Radford, Neill R. (Department of Neurology, Mayo Clinic, Jacksonville, FL, USA) ;
Dickson, Dennis W. (Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA) ;
Parisi, Joseph E. (Department of Laboratory Medicine and Pathology and Department of Neurology, Mayo Clinic, Rochester, MN, USA) ;
Boeve, Bradley (Department of Neurology, Mayo Clinic, Rochester, MN, USA) ;
Petersen, Ronald C. (Department of Neurology, Mayo Clinic, Rochester, MN, USA) ;
Miller, Bruce L. (Department of Neurology, University of California San Francisco Memory and Aging Center, San Francisco, CA, USA) ;
Seeley, William W. (Department of Neurology and Department of Pathology, University of California San Francisco Memory and Aging Center, San Francisco, CA, USA) ;
van Swieten, John C. (Department of Neurology, Erasmus MC, Rotterdam, The Netherlands) ;
van Rooij, Jeroen (Department of Neurology, Erasmus MC, Rotterdam, The Netherlands) ;
Pijnenburg, Yolande (Amsterdam UMC. University Medical Center) ;
van der Zee, Julie (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ;
Van Broeckhoven, Christine (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ;
Le Ber, Isabelle (Reference Center for Rare and Young Dementias, Institute of Memory and Alzheimer's Disease (IM2A), Department of Neurology, Hopital Pitié-Salpêtrière, Paris, France) ;
Van Deerlin, Vivianna (University of Pennsylvania) ;
Suh, EunRan (University of Pennsylvania) ;
Rohrer, Jonathan D. (University College London. Institute of Neurology) ;
Mead, Simon (University College London. Institute of Prion Diseases) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Öijerstedt, Linn (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Pickering-Brown, S. (Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, University of Manchester, UK) ;
Rollinson, Sara (Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, University of Manchester, UK) ;
Rossi, Giacomina (Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy) ;
Tagliavini, Fabrizio (Scientific Directorate, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy) ;
Brooks, William S. (Neuroscience Research Australia and Prince of Wales Clinical School, University of New South Wales, Sydney, Australia) ;
Dobson-Stone, Carol (School of Medical Sciences, University of New South Wales, Sydney, Australia) ;
Halliday, Glenda M. (University of Sydney. Brain and Mind Centre) ;
Hodges, John R. (Australian Research Council Centre of Excellence in Cognition and its Disorders, Sydney, Australia) ;
Piguet, Olivier (School of Psychology and Brain and Mind Centre, University of Sydney, Sydney, Australia) ;
Binetti, Giuliano (MAC Memory Center, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy) ;
Benussi, Luisa (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy) ;
Ghidoni, Roberta (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy) ;
Nacmias, Benedetta (Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy) ;
Sorbi, Sandro (IRCCS Don Gnocchi, Florence, Italy) ;
Bruni, Amalia (Regional Neurogenetic Centre, Lamezia Terme, Azienda Sanitaria Provinciale Catanzaro, Italy) ;
Galimberti, Daniela (Neurodegenerative Disease Unit, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy) ;
Scarpini, Elio (Neurodegenerative Disease Unit, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy) ;
Rainero, Innocenzo (Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy) ;
Rubino, Elisa (Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó, Alberto (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Ruiz, Agustin (Institut Català de Neurociènces Aplicades) ;
Hernández, Isabel (Institut Català de Neurociènces Aplicades) ;
Pastor, Pau (Fundació per la Recerca Biomèdica i Social Mútua de Terrassa) ;
Diez-Fairen, Monica (Fundació per la Recerca Biomèdica i Social Mútua de Terrassa) ;
Borroni, Barbara (Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy) ;
Pasquier, Florence (Centre Hospitalier Régional Universitaire de Lille) ;
Deramecourt, Vincent (Centre Hospitalier Régional Universitaire de Lille) ;
Lebouvier, Thibaud (Centre Hospitalier Régional Universitaire de Lille) ;
Perneczky, Robert (Imperial College London. School of Public Health) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Grafman, Jordan (Weinberg College of Arts and Sciences Northwestern University (Chicago, Estats Units d'Amèrica)) ;
Huey, Edward D. (The Taub Institute for Research on Alzheimer's Disease and the Aging Brain (Columbia, Estats Units d'Amèrica)) ;
Mayeux, Richard (The Gertrude H. Sergievsky Center, The Departments of Neurology, Psychiatry, Epidemiology, School of Public Health, Columbia University, New York, NY, USA) ;
Nalls, Michael A.. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Hernandez, Dena (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Singleton, Andrew B (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Momeni, Parastoo (Rona Holdings, Silicon Valley, CA, USA) ;
Zeng, Zhen (Merck & Co., Inc, Kenilworth, NJ, USA) ;
Hardy, John (University College London. Institute of Neurology) ;
Robertson, Janice (Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada) ;
Zinman, Lorne (Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, Canada) ;
Rogaeva, Ekaterina (Department of Medicine, Division of Neurology, University of Toronto, Toronto, ON, Canada)
Discovery of disease age-of-onset modifiers is important for clinical trials and drug design. Zhang et al. perform a genome-wide analysis of epigenetic functional polymorphisms and identify an association between the C6orf10/LOC101929163 locus and age of FTD/ALS onset. [...]
2018 - 10.1093/brain/awy238
Brain, Vol. 141 (september 2018) , p. 2895-2907
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