Resultats globals: 8 registres trobats en 0.03 segons.
Articles, 8 registres trobats
Articles 8 registres trobats  
1.
11 p, 708.4 KB DYRK1A and Activity-Dependent Neuroprotective Protein Comparative Diagnosis Interest in Cerebrospinal Fluid and Plasma in the Context of Alzheimer-Related Cognitive Impairment in Down Syndrome Patients / Moreau, Manon (Université Paris Cité) ; Carmona Iragui, María (Institut d'Investigació Biomèdica Sant Pau) ; Altuna-Azkargorta, Miren (Institut d'Investigació Biomèdica Sant Pau) ; Dalzon, Lorraine (Université Paris Cité) ; Barroeta, Isabel (Institut d'Investigació Biomèdica Sant Pau) ; Vilaire, Marie (Institut Médical Jérôme Lejeune) ; Durand, Sophie (Institut Médical Jérôme Lejeune) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Rebillat, Anne-Sophie (Institut Médical Jérôme Lejeune) ; Janel, Nathalie (Université Paris Cité) ; Universitat Autònoma de Barcelona
Down syndrome (DS) is a complex genetic condition due to an additional copy of human chromosome 21, which results in the deregulation of many genes. In addition to the intellectual disability associated with DS, adults with DS also have an ultrahigh risk of developing early onset Alzheimer's disease dementia. [...]
2022 - 10.3390/biomedicines10061380
Biomedicines, Vol. 10 (june 2022)  
2.
23 p, 1.1 MB The Behavioral and Psychological Symptoms of Dementia in down Syndrome Scale (BPSD-DS II) : Optimization and Further Validation / Dekker, Alain D. (Department of Practice-oriented Scientific Research (PWO). Alliade Care Group) ; Ulgiati, Aurora M. (Department of Practice-oriented Scientific Research (PWO). Alliade Care Group) ; Groen, Henk (Department of Epidemiology. University of Groningen. University Medical Center Groningen) ; Boxelaar, Vicent A. (Center for Information Technology. University of Groningen) ; Sacco, Silvia (Institut Jérôme Lejeune) ; Falquero, Ségolène (Institut Jérôme Lejeune) ; Carfi, Angelo (Policlinico Universitario Agostino Gemelli IRCCS (Roma, Itàlia)) ; Di Paola, Antonella (Department of Geriatrics. Fondazione Policlinico Universitario Gemelli Irccs) ; Benejam, Bessy (Barcelona Down Medical Center. Fundació Catalana Síndrome de Down) ; Valldeneu, Silvia (Institut d'Investigació Biomèdica Sant Pau) ; Fopma, Roelie (Department of Practice-oriented Scientific Research (PWO). Alliade Care Group) ; Oosterik, Marjo (Aveleijn) ; Hermelink, Marloes (De Twentse Zorgcentra) ; Beugelsdijk, Gonny (Ipse de Bruggen) ; Schippers, Mieke (Ipse de Bruggen) ; Henstra, Hepie (Nieuw Woelwijck) ; Scholten-Kuiper, Martine (Philadelphia Zorg) ; Willink-Vos, Judith (Severinus) ; De Ruiter, Lisa (Sherpa) ; Willems, Liesbeth (Sprank) ; Loonstra-De Jong, Anneke (Vanboeijen) ; Coppus, Antonia (Dichterbij) ; Tollenaere, Marleen (Department of Neurology and Memory Clinic. Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Onder, Graziano (Department of Cardiovascular. Endocrine-metabolic Diseases and Aging. Istituto Superiore di Sanitá) ; Rebillat, Anne-Sophie (Institut Jérôme Lejeune) ; Van Dam, Debby (Laboratory of Neurochemistry and Behavior. Department of Biomedical Sciences and Institute Born-Bunge. University of Antwerp) ; De Deyn, Peter Paul (University Hospital Antwerp (Bèlgica))
Background: People with Down syndrome (DS) are at high risk to develop Alzheimer's disease dementia (AD). Behavioral and psychological symptoms of dementia (BPSD) are common and may also serve as early signals for dementia. [...]
2021 - 10.3233/JAD-201427
Journal of Alzheimer's disease, Vol. 81 Núm. 4 (2021) , p. 1505-1527  
3.
10 p, 344.1 KB Markers of early changes in cognition across cohorts of adults with down syndrome at risk of alzheimer's disease / Aschenbrenner, A.J. (Washington University in St. Louis. Department of Neurology) ; Asaad Baksh, R. (The London Down Syndrome (LonDownS) Consortium) ; Benejam, Bessy (Barcelona Down Medical Center. Fundació Catalana Síndrome de Down) ; Beresford-Webb, J.A. (Cambridge Intellectual and Developmental Disabilities Research Group. Department of Psychiatry. University of Cambridge) ; Coppus, Antonia (Department of Primary and Community Care. Radboud University Medical Center) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Handen, Benjamin L (Department of Psychiatry. University of Pittsburgh) ; Hartley, S. (Department of Human Development & Family Studies. University of Wisconsin-Madison) ; Head, E. (Department of Pathology & Laboratory Medicine. University of California) ; Jaeger, J. (Deptment of Psychiatry and Behavioral Sciences. Albert Einstein College of Medicine) ; Levin, J. (Munich Cluster for Systems Neurology (SyNergy)) ; Loosli, S.V. (Department of Neurology. Ludwig-Maximilians-UniversitätMünchen) ; Rebillat, A.S. (Jerome Lejeune Institute) ; Sacco, S. (Jerome Lejeune Institute) ; Schmitt, F.A. (Departments of Neurology. Neurosurgery. Behavioral Science. Psychology. Psychiatry. University of Kentucky) ; Thurlow, K.E. (King's College London. Institute of Psychiatry, Psychology & Neuroscience) ; Zaman, S. (Cambridgeshire & Peterborough NHS Foundation Trust) ; Hassenstab, J. (Washington University in St. Louis. Department of Neurology) ; Strydom, A. (South London and the Maudsley NHS Foundation Trust)
Introduction: Down syndrome (DS), a genetic variant of early onset Alzheimer's disease (AD), lacks a suitable outcome measure for prevention trials targeting predementia stages. Methods: We used cognitive test data collected in several longitudinal aging studies internationally from 312 participants with DS without dementia to identify composites that were sensitive to change over time. [...]
2021 - 10.1002/dad2.12184
Alzheimer's & Dementia : Diagnosis, Assessment & Disease Monitoring, Vol. 13 Núm. 1 (2021) , p. e12184  
4.
28 p, 1.9 MB The clinical and neuropathological features of sporadic (Late-onset) and genetic forms of alzheimer's disease / Rujeedawa, T. (Cambridge Intellectual & Developmental Disabilities Research Group. Department of Psychiatry. University of Cambridge) ; Félez, E.C. (Cambridge Intellectual & Developmental Disabilities Research Group. Department of Psychiatry. University of Cambridge) ; Clare, I.C.H. (Cambridgeshire and Peterborough Foundation NHS Trust) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Strydom, A. (South London and the Maudsley NHS Foundation Trust. The LonDowns Consortium) ; Rebillat, A.S. (Geriatrics. Institut Jérôme Lejeune) ; Coppus, Antonia (Department of Primary and Community Care (149 ELG). Radboud University Nijmegen Medical Center) ; Levin, J. (Munich Cluster for Systems Neurology (SyNergy)) ; Zaman, S.H. (Cambridgeshire and Peterborough Foundation NHS Trust) ; Universitat Autònoma de Barcelona
The purpose of this review is to compare and highlight the clinical and pathological aspects of genetic versus acquired Alzheimer's disease: Down syndrome-associated Alzheimer's disease in (DSAD) and Autosomal Dominant Alzheimer's disease (ADAD) are compared with the late-onset form of the disease (LOAD). [...]
2021 - 10.3390/jcm10194582
Journal of clinical medicine, Vol. 10 Núm. 19 (October 2021) , p. 4582  
5.
18 p, 1.3 MB Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 / Zhang, Qian (St. Rockefeller University) ; Liu, Zhiyong (Rockefeller University) ; Moncada-Velez, Marcela (Rockefeller University) ; Chen, Jie (Rockefeller University) ; Ogishi, Masato (Rockefeller University) ; Bigio, Benedetta (Rockefeller University) ; Yang, Rui (Rockefeller University) ; Arias, Andrés Augusto (Universidad de Antioquia) ; Zhou, Qinhua (Rockefeller University) ; Han, Ji Eun (Rockefeller University) ; Ugurbil, Aileen Camille (Rockefeller University) ; Zhang, Peng (Rockefeller University) ; Rapaport, Franck (Rockefeller University) ; Li, Juan (Rockefeller University) ; Spaan, András N. (University Medical Center Utrecht) ; Boisson, Bertrand (University of Paris) ; Boisson-Dupuis, S. (University of Paris) ; Bustamante, J. (Necker Hospital for Sick Children) ; Puel, A. (University of Paris) ; Ciancanelli, Michael J (Turnstone Biologics) ; Zhang, Shen-Ying (University of Paris) ; Béziat, V. (University of Paris) ; Jouanguy, E. (University of Paris) ; Abel, Laurent (INSERM U1163. University of Paris) ; Cobat, A. (University of Paris) ; Casanova, Jean-Laurent (Rockefeller University) ; Bastard, Paul (University of Paris) ; Korol, Cecilia (Necker Hospital for Sick Children, Paris) ; Rosain, Jérémie (University of Paris) ; Philippot, Q. (APHP Tenon Hospital) ; Chbihi, Marwa (University of Paris. Imagine Institute) ; Lorenzo, L. (University of Paris. Imagine Institute) ; Bizien, L. (University of Paris. Imagine Institute) ; Neehus, A. L. (University of Paris. Imagine Institute) ; Kerner, G. (University of Paris. Imagine Institute) ; Seeleuthner, Y. (University of Paris. Imagine Institute) ; Manry, J. (University of Paris. Imagine Institute) ; Le Voyer, T. (University of Paris. Imagine Institute) ; Boisson, Bertrand (University of Paris. Imagine Institute) ; Boisson-Dupuis, S. (University of Paris. Imagine Institute) ; Bustamante, J. (Necker Hospital for Sick Children. AP-HP) ; Puel, A. (University of Paris. Imagine Institute) ; Zhang, S. Y. (University of Paris. Imagine Institute) ; Béziat, V. (University of Paris. Imagine Institute) ; Jouanguy, E. (University of Paris) ; Abel, Laurent (University of Paris) ; Cobat, A. (University of Paris) ; Bastard, Paul (University of Paris) ; Rosain, J. (University of Paris) ; Philippot, Q. (APHP Tenon Hospital) ; Chbihi, M. (University of Paris) ; Lorenzo, L. (University of Paris) ; Bizien, L. (University of Paris) ; Neehus, A. L. (University of Paris) ; Kerner, G. (University of Paris) ; Seeleuthner, Y. (University of Paris) ; Manry, J. (University of Paris) ; Le Voyer, T. (University of Paris) ; Boisson, Bertrand (University of Paris) ; Boisson-Dupuis, S. (University of Paris) ; Bustamante, J. (Necker Hospital for Sick Children) ; Puel, A. (University of Paris) ; Zhang, S. Y. (University of Paris) ; Béziat, Vivien (University of Paris) ; Jouanguy, Emmanuelle (University of Paris) ; Abel, Laurent (INSERM U1163. University of Paris) ; Cobat, Aurélie (University of Paris) ; Le Pen, Jérémie (Rockefeller University) ; Schneider, W. M. (Rockefeller University) ; Razooky, B. S. (Rockefeller University) ; Hoffmann, Hans-Heinrich (Rockefeller University) ; Michailidis, E. (Rockefeller University) ; Rice, Charles M. (Rockefeller University) ; Sabli, Ira K. D. (Imperial College London) ; Hodeib, Stephanie (Imperial College London) ; Sancho Shimizu, Vanessa (Imperial College London) ; Bilguvar, Kaya (Yale School of Medicine) ; Ye, Junqiang (Columbia University) ; Bolze, Alexandre (Helix) ; Zhang, Y. (NIAID Clinical Genomics Program) ; Notarangelo, Luigi (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ; Su, H. C. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ; Zhang, Y. (NIAID Clinical Genomics Program) ; Notarangelo, L. D. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ; Su, H. C. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ; Onodi, Fanny (Université de Paris) ; Korniotis, Sarantis (Université de Paris) ; Karpf, Léa (Université de Paris. Institut de Recherche Saint-Louis. INSERM U976. Hôpital Saint-Louis) ; Soumelis, V. (AP-HP. Hôpital Saint-Louis. Laboratoire d'Immunologie) ; Bonnet-Madin, Lucie (Université de Paris. Institut de Recherche Saint-Louis) ; Amara, A. (Université de Paris. Institut de Recherche Saint-Louis) ; Dorgham, Karim (Sorbonne Université. Inserm. Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI PARIS). Assistance Publique-Hôpitaux de Paris (AP-HP). Hôpital Pitié-Salpêtrière) ; Gorochov, Guy (Sorbonne Université) ; Smith, N. (Institut Pasteur) ; Duffy, Darragh (Institut Pasteur) ; Moens, L. (University Hospitals Leuven (Bèlgica)) ; Meyts, I. (KU Leuven. Department of Immunology. Microbiology and Transplantation) ; Meade, P. (Department of Microbiology) ; Garcia-Sastre, Adolfo (Tisch Cancer Institute) ; Krammer, Florian (Department of Microbiology) ; Corneau, A. (Sorbonne Université) ; Masson, C. (Imagine Institute) ; Schmitt, Y. (Imagine Institute) ; Schluter, A. (Neurometabolic Diseases Laboratory) ; Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ; Khan, T. (Sidra Medicine) ; Marr, Nico (Hamad Bin Khalifa University) ; Fellay, Jacques (Swiss Federal Institute of Technology Lausanne) ; Roussel, L. (McGill University Health Centre) ; Vinh, D. C. (McGill University Health Centre) ; Shahrooei, M. (Saeed Pathobiology and Genetic Lab) ; Alosaimi, M. F. (College of Medicine. King Saud University) ; Alsohime, F. ; Hasanato, R. (Department of Pathology and Laboratory Medicine. College of Medicine. King Saud University) ; Mansouri, D. (Shahid Beheshti University of Medical Sciences) ; Al-Saud, H. (National Center of Genomics Technology. King Abdulaziz City for Science and Technology) ; Almourfi, F. (National Center of Genomics Technology. King Abdulaziz City for Science and Technology) ; Al-Mulla, F. (Kuwait University) ; Al-Muhsen, S. Z. (Immunology Research Laboratory. Department of Pediatrics. College of Medicine. King Saud University Medical City. King Saud University) ; Al Turki, S. (Cancer & Blood Research. King Abdullah International Medical Research Center) ; van de Beek, D. (Amsterdam UMC. University Medical Center) ; Biondi, A. (Pediatric Departement. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale) ; Bettini, L. R. (Pediatric Departement. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale) ; D'Angio, Mariella (Pediatric Departement. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale) ; Bonfanti, Paolo (Department of Infectious Diseases. San Gerardo Hospital. University of Milano-Bicocca) ; Imberti, L. (CREA Laboratory. Diagnostic Laboratory. ASST Spedali Civili di Brescia) ; Sottini, A. (CREA Laboratory. Diagnostic Laboratory. ASST Spedali Civili di Brescia) ; Paghera, S. (CREA Laboratory. Diagnostic Laboratory. ASST Spedali Civili di Brescia) ; Quiros-Roldan, E. (Department of Infectious and Tropical Diseases. University of Brescia. ASST Spedali di Brescia) ; Rossi, C. (Medical Officer. ASST Spedali Civili di Brescia) ; Oler, A. J. (Bioinformatics and Computational Biosciences Branch. Office of Cyber Infrastructure and Computational Biology. NIAID. NIH) ; Tompkins, M. F. (PRIMER. Uniformed Services University of the Health Sciences) ; Alba, Camille (PRIMER. Uniformed Services University of the Health Sciences) ; Dalgard, C. L. (American Genome Center. Uniformed Services University of the Health Sciences) ; Vandernoot, Isabelle (Center of Human Genetics. Hôpital Erasme. Université Libre de Bruxelles) ; Smits, Guillaume (Center of Human Genetics. Hôpital Erasme. Université Libre de Bruxelles) ; Goffard, Jean-Christope (Department of Internal Medicine. Hôpital Erasme. Université Libre de Bruxelles) ; Migeotte, Isabelle (Hôpital Erasme) ; Haerynck, Filomeen (Department of Paediatric Immunology and Pulmonology. Centre for Primary Immunodeficiency Ghent (CPIG). PID Research Lab. Jeffrey Modell Diagnosis and Research Centre. Ghent University Hospital) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ; Morange, Pierre-Emmanuel (Aix Marseille Univ) ; Keles, Sevgi (Meram Medical Faculty. Necmettin Erbakan University. Meram Medical Faculty) ; Çölkesen, Fatma (Department of Infectious Diseases and Clinical Microbiology. Konya Training and Research Hospital) ; Ozcelik, Tayfun (Bilkent University) ; Yasar, Tayfun Kart (Departments of Infectious Diseases and Clinical Microbiology. Bakirkoy Dr. Sadi Konuk Training and Research Hospital. University of Health Sciences) ; Senoglu, Sevtap (Departments of Infectious Diseases and Clinical Microbiology. Bakirkoy Dr. Sadi Konuk Training and Research Hospital. University of Health Sciences) ; Karabela, Şemsi Nur (Departments of Infectious Diseases and Clinical Microbiology. Bakirkoy Dr. Sadi Konuk Training and Research Hospital. University of Health Sciences) ; Rodríguez-Gallego, Carlos (Hospital Universitario de Gran Canaria Dr. Negrín) ; Novelli, Giuseppe (University of Rome "Tor Vergata) ; Hraiech, Sami (Intensive Care Unit) ; Tandjaoui-Lambiotte, Yacine (Avicenne Hospital) ; Duval, Xavier (Hôpital Bichat Claude Bernard) ; Laouénan, Cédric (Hôpital Bichat) ; Duval, X. (Hôpital Bichat Claude Bernard) ; Snow, Andrew (Uniformed Services University of the Health Sciences, Bethesda) ; Dalgard, Clifton L. (American Genome Center) ; Milner, Joshua D. (Columbia University) ; Mogensen, Trine Hyrup (Aarhus University) ; Spaan, András N. (Univer-sity Medical Center Utrecht) ; Bustamante, Jacinta (Necker Hospital for Sick Children) ; Ciancanelli, Michael J. (Turnstone Biologics) ; Maniatis, Tom (New York Genome Center) ; Soumelis, Vassili (Hôpital Saint-Louis, Paris) ; Nussenzweig, Michel (Howard Hughes Medical Institute) ; Garcia-Sastre, Adolfo (Icahn School of Medicine) ; Lifton, Richard P. (Yale School of Medicine) ; Foti, Giuseppe (University of Milano-Bicocca) ; Bellani, G. (University of Milano-Bicocca) ; Citerio, Giuseppe (University of Milano-Bicocca) ; Contro, E. (University of Milano-Bicocca) ; Pesci, Alberto (University of Milano-Bicocca.) ; Valsecchi, M. G. (University of Milano-Bicocca) ; Cazzaniga, M. (University of Milano-Bicocca) ; Abad Capa, Jorge (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Blanco Guillermo, Ignacio (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Rodrigo, C. (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Aguilera-Albesa, Sergio (Complejo Hospitalario de Navarra) ; Akcan, O. M. (Necmettin Erbakan University) ; Darazam, I. A. (Shahid Beheshti University of Medical Sciences) ; Aldave, J. C. (Hospital Nacional Edgardo Rebagliati Martins) ; Ramos, M. A. (Parc Sanitari Sant Joan de Déu) ; Nadji, S. A. (Shahid Beheshti University of Medical Sciences) ; Alkan, G. (Selcuk University) ; Allardet-Servent, J. (Hôpital Européen) ; Allende-Martinez, Luis M (Hospital Universitario 12 de Octubre (Madrid)) ; Alsina, L. (Hospital Sant Joan de Déu (Manresa)) ; Alyanakian, M. A. (Necker Hospital for Sick Children) ; Amador-Borrero, B. (Université de Paris) ; Mouly, S. (Internal Medicine Department. Hôpital Lariboisière. APHP. Université de Paris) ; Sene, D. (Internal Medicine Department. Hôpital Lariboisière. APHP. Université de Paris) ; Amoura, Zahir (Internal Medicine Department. Pitié-Salpétrière Hospital) ; Mathian, Alexis (Internal Medicine Department. Pitié-Salpétrière Hospital) ; Antolí, Arnau (Hospital Universitari de Bellvitge) ; Blanch, G. R. (Hospital Universitari de Bellvitge) ; Riera, J. S. (Hospital Universitari de Bellvitge) ; Moreno, X. S. (Hospital Universitari de Bellvitge) ; Arslan, S. (Necmettin Erbakan University) ; Assant, S. (Lyon Sud Hospital) ; Auguet, Teresa (Hospital Universitari Joan XXIII de Tarragona) ; Azot, A. (Private Practice) ; Bajolle, F. (Necker Hospital for Sick Children) ; Bustamante, J. (Necker Hospital for Sick Children) ; Lévy, R. (Necker Hospital for Sick Children) ; Oualha, M. (Necker Hospital for Sick Children) ; Baldolli, A. (Department of Infectious Diseases) ; Ballester Devis, Maria (Consorcio Hospital General Universitario) ; Feldman, H. B. (Tel Aviv University) ; Barrou, B. (Sorbonne Université.) ; Beurton, Alexandra (Hôpital Pitié-Salpêtrière) ; Bilbao, A. (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Blanchard-Rohner, G. (Geneva University Hospitals (Suïssa)) ; Blandinières, A. (Georges Pompidou Hospital) ; Rivet, N. (Georges Pompidou Hospital) ; Blázquez-Gamero, Daniel (Hospital Universitario 12 de Octubre (Madrid)) ; Bloomfield, M. (Motol University Hospital) ; Bolivar-Prados, Mireia (Hospital de Mataró. Consorci Sanitari del Maresme) ; Clavé i Civit, Pere (rie, R.) ; Bosteels, C. (Universitair Ziekenhuis Gent) ; Lambrecht, B. N. (Universitair Ziekenhuis Gent) ; van Braeckel, E. (Universitair Ziekenhuis Gent) ; Bousfiha, Ahmed A (Averroes University Hospital D'Inflammation et d'Allergie. Hassann II University) ; Bouvattier, C. (Endocrinology Unit. APHP Hôpitaux Universitaires Paris-Sud) ; Vincent, A. (Endocrinology Unit. APHP Hôpitaux Universitaires Paris-Sud) ; Boyarchuk, O. (I. Horbachevsky Ternopil National Medical University) ; Bueno, M. R. P. (University of São Paulo) ; Castro, M. V. (University of São Paulo) ; Matos, L. R. B. (University of São Paulo) ; Zatz, M. (Human Genome and Stem-Cell Research Center. University of São Paulo) ; Agra, J. J. C. (Hospital Universitario Insular de Gran Canaria) ; Calimli, S. (Konya State Hospital) ; Capra, R. (Spedali Civili) ; Carrabba, M. (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico) ; Fabio, G. (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico) ; Casasnovas, Carlos (Hospital Universitari de Bellvitge) ; Vélez-Santamaria, V. (Hospital Universitari de Bellvitge) ; Caseris, M. (Hopital Robert Debré) ; Falck, A. (Hopital Robert Debré) ; Poncelet, G. (Hopital Robert Debré) ; Castelle, M. (Necker Enfants Malades Hospital) ; Castelli, F. (University of Brescia) ; de Vera, M. C. (Canarian Health System) ; Catherinot, E. (Hôpital Foch) ; Chalumeau, M. (Necker Hospital for Sick Children) ; Toubiana, J. (Necker Hospital for Sick Children) ; Charbit, B. (Pasteur Institute) ; Li, Z. (Pasteur Institute) ; Pellegrini, S. (Pasteur Institute) ; Cheng, M. P. (McGill University Health Centre) ; Clotet Sala, Bonaventura (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Codina, A. (Institut de Recerca Sant Joan de Déu) ; Çölkesen, F. (Necmettin Erbakan University) ; Çölkesen, F. (Konya Training and Research Hospital) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ; Comarmond, C. (Pitié-Salpêtrière Hospital) ; Dalmau, David (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Darley, D. R. (Vincent's Hospital Darlinghurst) ; Dauby, N. (Université Libre de Bruxelles) ; Dauger, S. (Robert-Debré University Hospital) ; Le Bourgeois, F. (Robert-Debré University Hospital) ; Levy, M. (Robert-Debré University Hospital) ; de Pontual, L. (Hôpital Jean Verdier) ; Dehban, A. (Sina Medical Complex) ; Delplancq, G. (Centre de Génétique Humaine) ; Demoule, A. (Sorbonne Université Médecine) ; Diehl, J. L. (Georges Pompidou Hospital) ; Dobbelaere, S. (AZ Delta) ; Durand, Sophie (Institut Jérôme Lejeune) ; Mircher, C. (Institut Jérôme Lejeune) ; Rebillat, A. S. (Institut Jérôme Lejeune) ; Vilaire, M. E. (Institut Jérôme Lejeune) ; Eldars, W. (DMansoura University) ; Elgamal, M. (Mansoura University) ; Elnagdy, M. H. (Mansoura University) ; Emiroglu, M. (Selcuk University) ; Erdeniz, E. H. (Ondokuz Mayıs University) ; Aytekin, S. E. (Necmettin Erbakan University) ; Euvrard, R. (Centre Hospitalier Fleyriat) ; Evcen, R. (Necmettin Erbakan University) ; Faivre, L. (CHU Dijon) ; Fartoukh, M. (APHP Tenon Hospital) ; Philippot, Q. (APHP Tenon Hospital) ; Faure, M. (Sorbonne Universités) ; Arquero, M. F. (Hospital Clínico San Carlos (Madrid)) ; Flores, Carlos (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ; Francois, B. (CHU Limoges) ; Fumadó, Victoria (Universitat de Barcelona) ; Fusco, Francesca (Institute of Genetics and Biophysics "Adriano Buzzati-Traverso) ; Ursini, M. V. (Institute of Genetics and Biophysics "Adriano Buzzati-Traverso) ; Solis, B. G. (Hospital Universitario La Paz (Madrid)) ; de Diego, R. P. (Hospital Universitario La Paz (Madrid)) ; van Den Rym, A. M. (Hospital Universitario La Paz (Madrid)) ; Gaussem, P. (Department of Hematology. APHP. Hopital Européen Georges Pompidou. Inserm UMR-S1140) ; Gil-Herrera, J. (Hos-pital General Universitario. Instituto de Investigación Sanitaria "Gregorio Marañón) ; Gilardin, L. (Bégin Military Hospital) ; Girona-Alarcón, Mònica (Hospital Sant Joan de Déu (Manresa)) ; Goffard, J. C. (Université Libre de Bruxelles) ; Gok, F. (Necmettin Erbakan University) ; Yosunkaya, A. (Necmettin Erbakan University) ; Thy, M. (Center for Clinical Investigation. Assistance Publique-Hôpitaux de Paris. Bichat-Claude Bernard University Hospital) ; van Agtmael, Michiel (Department of Infectious Diseases. Amsterdam UMC) ; Bomers, Marije (Department of Infectious Diseases. Amsterdam UMC) ; Chouchane, Osoul (Department of Infectious Diseases. Amsterdam UMC) ; Geerlings, Suzanne (Department of Infectious Diseases. Amsterdam UMC) ; Goorhuis, Bram (Department of Infectious Diseases. Amsterdam UMC) ; Grobusch, Martin P. (Department of Infectious Diseases. Amsterdam UMC) ; Harris, Vanessa (Department of Infectious Diseases. Amsterdam UMC) ; Hermans, Sabine M. (Department of Infectious Diseases. Amsterdam UMC) ; Hovius, Joppe W. (Department of Infectious Diseases. Amsterdam UMC) ; Nellen, Jeaninne (Department of Infectious Diseases. Amsterdam UMC) ; Peters, Edgar (Department of Infectious Diseases. Amsterdam UMC) ; van der Poll, Tom (Department of Infectious Diseases. Amsterdam UMC) ; Prins, Jan M. (Department of Infectious Diseases. Amsterdam UMC) ; Reijnders, Tom (Department of Infectious Diseases. Amsterdam UMC) ; Schinkel, Michiel (Department of Infectious Diseases. Amsterdam UMC) ; Sigaloff, Kim (Department of Infectious Diseases. Amsterdam UMC) ; Stijnis, Cornelis S. (Department of Infectious Diseases. Amsterdam UMC) ; van der Valk, Marc (Department of Infectious Diseases. Amsterdam UMC) ; van Vugt, Michèle (Department of Infectious Diseases. Amsterdam UMC) ; Joost Wiersinga, W. (Department of Infectious Diseases. Amsterdam UMC) ; Algera, Anna Geke (Department of Intensive Care. Amsterdam UMC) ; van Baarle, Frank (Department of Intensive Care. Amsterdam UMC) ; Bos, Lieuwe D.. (Department of Intensive Care. Amsterdam UMC) ; Botta, Michela (Department of Intensive Care. Amsterdam UMC) ; de Bruin, Sanne (Department of Intensive Care. Amsterdam UMC) ; Bulle, Esther (Department of Intensive Care. Amsterdam UMC) ; Elbers, Paul (Department of Intensive Care. Amsterdam UMC) ; Fleuren, Lucas (Department of Intensive Care. Amsterdam UMC) ; Girbes, Armand (Department of Intensive Care. Amsterdam UMC) ; Hagens, Laura (Department of Intensive Care. Amsterdam UMC) ; Heunks, Leo (Department of Intensive Care. Amsterdam UMC) ; Horn, Janneke (Department of Intensive Care. Amsterdam UMC) ; van Mourik, Niels (Department of Intensive Care. Amsterdam UMC) ; Paulus, Frederique (Department of Intensive Care. Amsterdam UMC) ; Raasveld, Jorinde (Department of Intensive Care. Amsterdam UMC) ; Schultz, Marcus J. (Department of Intensive Care. Amsterdam UMC) ; Smit, Marry (Department of Intensive Care. Amsterdam UMC) ; Stilma, Willemke (Department of Intensive Care. Amsterdam UMC) ; Thoral, Patrick (Department of Intensive Care. Amsterdam UMC) ; Tsonas, Anissa M (Department of Intensive Care. Amsterdam UMC) ; de Vries, Heder (Department of Intensive Care. Amsterdam UMC) ; Bax, Diane (Experimental Immunology. Amsterdam UMC) ; Cloherty, Alex (Experimental Immunology. Amsterdam UMC) ; Beudel, Martijn (Department of Neurology. Amsterdam UMC. Amsterdam Neuroscience) ; Brouwer, Matthijs C. (Department of Neurology. Amsterdam UMC. Amsterdam Neuroscience) ; Koning, Rutger (Department of Neurology. Amsterdam UMC. Amsterdam Neuroscience) ; van de Beek, Diederik (Amsterdam UMC. University Medical Center) ; Bogaard, H. J. (Department of Pulmonology. Amsterdam UMC) ; de Brabander, J. (Department of Infectious Diseases. Amsterdam UMC) ; de Bree, G. (Department of Infectious Diseases. Amsterdam UMC) ; Bugiani, Marianna (Department of Pathology. Amsterdam UMC) ; Geerts, Bart (Department of Anesthesiology. Amsterdam UMC) ; Hollmann, Markus W. (Department of Anesthesiology. Amsterdam UMC) ; Preckel, Benedikt (Department of Anesthesiology. Amsterdam UMC) ; Veelo, Denise (Department of Anesthesiology. Amsterdam UMC) ; Geijtenbeek, Theo (Department of Experimental Immunology. Amsterdam UMC) ; Hafkamp, Florianne (Department of Experimental Immunology. Amsterdam UMC) ; Hamann, Jorg (Amsterdam UMC Biobank Core Facility. Amsterdam UMC) ; Hemke, Robert (Department of Radiology. Amsterdam UMC) ; de Jong, Menno D. (Department of Medical Microbiology. Amsterdam UMC) ; Schuurman, Alex (Department of Internal Medicine. Amsterdam UMC) ; Teunissen, Charlotte (Neurochemical Laboratory. Amsterdam UMC) ; Vlaar, Alexander P. J. (Department of Intensive Care. Amsterdam UMC) ; Wouters, Dorien (Department of Clinical Chemistry. Amsterdam UMC) ; Zwinderman, A. H. (Department of Clinical Epidemiology. Biostatistics and Bioinformatics. Amsterdam UMC) ; Abel, Laurent (INSERM U1163. University of Paris. Imagine Institute) ; Aiuti, Alessandro (San Raffaele Telethon Institute for Gene Therapy. IRCCS Ospedale San Raffaele) ; Muhsen, Saleh Al (King Saud University) ; Al-Mulla, Fahd (Kuwait University) ; Anderson, Mark S. (University of California. San Francisco) ; Feldman, Hagit Baris (Genetics Institute. Tel Aviv Sourasky Medical Center. Sackler Faculty of Medicine. Tel Aviv University) ; Bogunovic, Dusan (Icahn School of Medicine) ; Itan, Yuval (Icahn School of Medicine) ; Bolze, Alexandre (Helix) ; Cirulli, Elizabeth (Helix) ; Barrett, Kelly Schiabor . (Helix) ; Washington, Nicole (Helix) ; Bondarenko, Anastasiia (Shupyk National Medical Academy for Postgraduate Education) ; Bousfiha, Ahmed A. (Clinical Immunology Unit. Pediatric Infectious Disease Departement. Faculty of Medicine and Pharmacy. Averroes University Hospital. LICIA Laboratoire d'Immunologie Clinique. D'Inflammation et d'Allergie. Hassann II University) ; Brodin, Petter (Karolinska Institutet (Estocolm, Suècia)) ; Bryceson, Yenan (Karolinska Institutet (Estocolm, Suècia)) ; Bustamante, Carlos D. (Stanford University) ; Butte, Manish J (University of California) ; Casari, Giorgio (Medical Genetics. IRCCS Ospedale San Raffaele) ; Chakravorty, Samya (Emory University. Department of Pediatrics. Children's Healthcare of Atlanta) ; Christodoulou, John (Murdoch Children's Research Institute) ; Le Mestre, S. (University of São Paulo) ; Condino-Neto, Antonio (University of São Paulo) ; Cooper, Megan A. (Washington University School of Medicine) ; Dalgard, Clifton L. (American Genome Center. Uniformed Services University of the Health Sciences) ; David, Alessia (Centre for Bioinformatics and System Biology. Department of Life Sciences. Imperial College London. South Kensington Campus) ; DeRisi, Joseph L. (Chan Zuckerberg Biohub) ; Desai, Murkesh (Bai Jerbai Wadia Hospital for Children) ; Drolet, Beth A. (School of Medicine and Public Health. University of Wisconsin) ; Espinosa, Sara (Instituto Nacional de Pediatria. (National Institute of Pediatrics)) ; Fellay, Jacques (Swiss Federal Institute of Technology Lausanne) ; Flores, Carlos (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ; Franco, Jose Luis (University of Antioquia) ; Gregersen, Peter K. (Feinstein Institute for Medical Research. Northwell Health USA) ; Haerynck, Filomeen (Department of Paediatric Immunology and Pulmonology. Centre for Primary Immunodeficiency Ghent (CPIG). PID Research Lab. Jeffrey Modell Diagnosis and Research Centre. Ghent University Hospital) ; Hagin, David (Genetics Institute. Tel Aviv Sourasky Medical Center) ; Halwani, Rabih (Sharjah Institute of Medical Research. College of Medicine. University of Sharjah) ; Heath, Jim (Institute for Systems Biology) ; Henrickson, Sarah E. (Children's Hospital of Philadelphia (Pennsilvània)) ; Hsieh, Elena (Anschutz Medical Campus) ; Imai, Kohsuke (Riken) ; Karamitros, Timokratis (Hellenic Pasteur Institute) ; Kisand, Kai (University of Tartu) ; Ku, Cheng-Lung. (Chang Gung University) ; Lau, Yu-Lung (University of Hong Kong) ; Ling, Yun (Shanghai Public Health Clinical Center. Fudan University) ; Lucas, Carrie L. (Yale School of Medicine) ; Mansouri, Davoud (Shahid Beheshti University of Medical Sciences) ; Marodi, Laszlo (Semmelweis University Budapest) ; Milner, Joshua (Columbia University Medical Center) ; Mironska, Kristina (University Clinic for Children's Diseases) ; Morio, Tomohiro (Tokyo Medical & Dental University Hospital) ; Notarangelo, Luigi (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ; Su, Helen C. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ; Novelli, Antonio (Bambino Gesù Children's Hospital) ; Novelli, Giuseppe (Department of Biomedicine and Prevention. University of Rome "Tor Vergata) ; O'Farrelly, Cliona (Trinity College) ; Okada, Satoshi (Hiroshima University) ; Ozcelik, Tayfun (Bilkent University) ; Perez de Diego, Rebeca (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Planas, Anna M. (IIBB-CSIC. IDIBAPS) ; Prando, Carolina (Faculdades Pequeno Príncipe. Instituto de Pesquisa Pelé Pequeno Príncipe) ; Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ; Quintana-Murci, Luis (Institut Pasteur. CNRS. UMR 2000. Collège de France) ; Renia, Laurent (Infectious Diseases Horizontal Technology Center. Singapore Immunology Network. Agency for Science Technology (A*STAR)) ; Renieri, Alessandra (Medical Genetics. University of Siena) ; Rodríguez-Gallego, Carlos (Hospital Universitario de Gran Canaria Dr. Negrín) ; Sancho Shimizu, Vanessa (Imperial College London) ; Sankaran, Vijay (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ; Shahrooei, Mohammed (Saeed Pathobiology and Genetic Lab) ; Snow, Andrew (Uniformed Services University of the Health Sciences) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ; Tangye, Stuart (Garvan Institute of Medical Research (Darlinghurst, Austràlia)) ; Turvey, Stuart (University of British Columbia) ; Uddin, Furkan (Holy Family Red Crescent Medical College. Centre for Precision Therapeutics. NeuroGen Children's Healthcare. Genetics and Genomic Medicine Centre. NeuroGen Children's Healthcare) ; Uddin, Mohammed J. (Centre for Applied Genomics. Department of Genetics and Genome Biology. Hospital for Sick Children) ; van de Beek, Diederik (Amsterdam UMC. University Medical Center) ; Vazquez, Sara E. (University of California) ; Vinh, Donald C. (McGill University Health Centre) ; von Bernuth, Horst (Charité-Berlin University Hospital Center) ; Zawadzki, Pawel (Molecular Biophysics Division. Faculty of Physics. A. Mickiewicz University) ; Jing, H. (NIAID Clinical Genomics Program. National Institutes of Health) ; Tung, W. (NIAID Clinical Genomics Program. National Institutes of Health) ; Meguro, K. (NIAID Clinical Genomics Program. National Institutes of Health) ; Shaw, E. (NIAID Clinical Genomics Program. National Institutes of Health) ; Jing, Huie (NIAID Clinical Genomics Program. National Institutes of Health) ; Tung, Wesley (NIAID Clinical Genomics Program. National Institutes of Health) ; Shafer, S. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Zheng, L. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Zhang, Z. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Kubo, S. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Chauvin, S. D. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Meguro, K. (NIAID Clinical Genomics Program. National Institutes of Health) ; Shaw, Elana (NIAID Clinical Genomics Program. National Institutes of Health) ; Lenardo, M. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Luthers, Christopher R. (Department of Pharmacology & Molecular Therapeutics. Uniformed Services University of the Health Sciences) ; Bauman, Bradly M. (Department of Pharmacology & Molecular Therapeutics. Uniformed Services University of the Health Sciences) ; Shafer, Samantha (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Zheng, Lixin (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Zhang, Zinan (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Kubo, Satoshi (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Chauvin, Samuel D. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Lenardo, Michael (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Lack, Justin (NIAID Collaborative Bioinformatics Resource. Frederick National Laboratory for Cancer Research. Leidos Biomedical Research. Inc.) ; Karlins, Eric (Bioinformatics and Computational Biosciences Branch. Office of Cyber Infrastructure and Computational Biology. NIAID. NIH) ; Hupalo, Daniel M. (American Genome Center. Uniformed Services University of the Health Sciences) ; Rosenberger, John (American Genome Center. Uniformed Services University of the Health Sciences) ; Sukumar, Gauthaman (American Genome Center. Uniformed Services University of the Health Sciences) ; Wilkerson, Matthew D. (American Genome Center. Uniformed Services University of the Health Sciences) ; Zhang, Xijun (American Genome Center. Uniformed Services University of the Health Sciences) ; Universitat Autònoma de Barcelona
Clinical outcome upon infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ranges from silent infection to lethal coronavirus disease 2019 (COVID-19). We have found an enrichment in rare variants predicted to be loss-of-function (LOF) at the 13 human loci known to govern Toll-like receptor 3 (TLR3)- and interferon regulatory factor 7 (IRF7)-dependent type I interferon (IFN) immunity to influenza virus in 659 patients with life-threatening COVID-19 pneumonia relative to 534 subjects with asymptomatic or benign infection. [...]
2020 - 10.1126/science.abd4570
Science, Vol. 370 Núm. 6515 (23 2020) , p. eabd4570  
6.
13 p, 1.5 MB Medical vulnerability of individuals with Down syndrome to severe COVID-19-data from the Trisomy 21 Research Society and the UK ISARIC4C survey / Hüls, Anke (Department of Epidemiology and Gangarosa Department of Environmental Health, Rollins School of Public Health, Emory University, Atlanta, Georgia, USA) ; Costa, Alberto C. S. (Departments of Pediatrics and of Psychiatry, School of Medicine, Case Western Reserve University, Cleveland, Ohio, USA) ; Dierssen, Mara (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Baksh, R. Asaad (The London Down Syndrome (LonDownS) Consortium, London, United Kingdom) ; Bargagna, Stefania (Fondazione Stella Maris IRCCS, Pisa, Italy) ; Baumer, Nicole (Harvard Medical School) ; Brandão, Ana Claudia (Hospital Israelita Albert Einstein (Sao Paolo, Brasil)) ; Carfi, Angelo (Policlinico Universitario Agostino Gemelli IRCCS (Roma, Itàlia)) ; Carmona Iragui, María (Institut d'Investigació Biomèdica Sant Pau) ; Chicoine, Brian (Advocate Medical Group Adult Down Syndrome Center, Park Ridge, IL, USA) ; Ghosh, Sujay (Cytogenetics and Genomics Reserach Unit. Department of Zoology, University of Calcutta.Kolkata. West Bengal, India) ; Lakhanpaul, Monica (Whttington NHS Trust, London, United Kingdom; Down Syndrome Medical Interest Group, London, United Kingdom) ; Manso, Coral (CM: DOWN ESPAÑA, Madrid, Spain) ; Mayer, Miguel-Angel (Institut Hospital del Mar d'Investigacions Mèdiques) ; Ortega, Maria del Carmen (Hospital Universitario 12 de Octubre (Madrid)) ; de Asua, Diego Real (Instituto de Investigación Hospital Universitario de la Princesa) ; Rebillat, Anne-Sophie (Institut Jérôme Lejeune, Paris, France) ; Russell, Lauren Ashley (Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia, USA) ; Sgandurra, Giuseppina (Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy) ; Valentini, Diletta (Bambino Gesù Children's Hospital) ; Sherman, Stephanie L. (Department of Human Genetics, School of Medicine, Emory University, Atlanta, Georgia, USA) ; Strydom, Andre (South London and the Maudsley NHS Foundation Trust) ; Universitat Autònoma de Barcelona
Health conditions, immune dysfunction, and premature aging associated with trisomy 21 (Down syndrome, DS) may impact the clinical course of COVID-19. The T21RS COVID-19 Initiative launched an international survey for clinicians or caregivers on patients with COVID-19 and DS. [...]
2021 - 10.1016/j.eclinm.2021.100769
EClinicalMedicine, february 2021  
7.
11 p, 1.2 MB Alzheimer's disease in Down syndrome : An overlooked population for prevention trials / Strydom, André (South London and Maudsley NHS Foundation Trust) ; Coppus, Antonia (Department of Primary and Community Care, Radboud University Medical Center, Nijmegen) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ; Danek, Adrian (Ludwig-Maximilians-Universität München) ; Fortea, Juan (Fundació Catalana Síndrome de Down) ; Hardy, John (Reta Lila Weston Institute, Institute of Neurology, University College London) ; Levin, Johannes (German Center for Neurodegenerative Diseases (DZNE) site Munich) ; Nuebling, Georg (Ludwig-Maximilians-Universität München) ; Rebillat, Anne-Sophie (Institut Jérôme Lejeune) ; Ritchie, Craig (Centre for Clinical Brain Sciences. University of Edinburgh) ; van Duijn, Cornelia (Department of Epidemiology, Erasmus Medical Centre, Rotterdam) ; Zaman, Shahid (Cambridge University Hospitals NHS Foundation Trust (Regne Unit)) ; Zetterberg, Henrik (Sahlgrenska University Hospital (Suècia)) ; Universitat Autònoma de Barcelona
The discovery that adults with Down syndrome (DS) have neuropathological features identical to individuals with sporadic Alzheimer's disease (AD) played a key role in the identification of the amyloid precursor protein gene on chromosome 21 and resulted in the amyloid cascade hypothesis. [...]
2018 - 10.1016/j.trci.2018.10.006
Alzheimer's & dementia, Vol. 4 (december 2018) , p. 703-713  
8.
23 p, 1.3 MB The behavioral and psychological symptoms of dementia in Down syndrome (BPSD-DS) scale : comprehensive assessment of psychopathology in Down syndrome / Dekker, Alain D. (Universitair Medisch Centrum Groningen) ; Sacco, Silvia (Institut Jérôme Lejeune) ; Carfi, Angelo (Universitá Cattolica del Sacro Cuore) ; Benejam, Bessy (Fundació Catalana Síndrome de Down) ; Vermeiren, Yannick (Universitair Medisch Centrum Groningen) ; Beugelsdijk, Gonny (Ipse de Bruggen) ; Schippers, Mieke (Ipse de Bruggen) ; Hassefras, Lyanne (Ipse de Bruggen) ; Eleveld, José (Cosis (Groningen)) ; Grefelman, Sharina (Cosis (Groningen)) ; Fopma, Roelie (Talant (Heerenveen)) ; Bomer-Veenboer, Monique (Pameijer (Rotterdam)) ; Botí, M (Fundació Catalana Síndrome de Down) ; Oosterling, G. Danielle E. (Aveleijn (Borne)) ; Scholten, Esther (Elver (Nieuw-Wehl)) ; Tollenaere, Marleen (Institute Born-Bunge) ; Checkley, Laura (University College London. Division of Psychiatry) ; Strydom, André (University College London. Division of Psychiatry) ; Van Goethem, Gert (Het GielsBos (Gierle)) ; Onder, Graziano (Universitá Cattolica del Sacro Cuore) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ; zu Eulenburg, Christine (Universitair Medisch Centrum Groningen) ; Coppus, Antonia (Dichterbij (Gennep)) ; Rebillat, Anne-Sophie (Institut Jérôme Lejeune) ; Fortea, Juan (Fundació Catalana Síndrome de Down) ; De Deyn, Peter Paul (Universitair Medisch Centrum Groningen) ; Universitat Autònoma de Barcelona
People with Down syndrome (DS) are prone to develop Alzheimer's disease (AD). Behavioral and psychological symptoms of dementia (BPSD) are core features, but have not been comprehensively evaluated in DS. [...]
2018 - 10.3233/JAD-170920
Journal of Alzheimer's disease, Vol. 63, issue 2 (2018) , p. 797-819  

Vegeu també: autors amb noms similars
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