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7 p, 663.7 KB |
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort
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Verheijen, Jan (University of Antwerp) ;
van der Zee, Julie (University of Antwerp) ;
Gijselinck, Ilse (University of Antwerp) ;
Van den Bossche, Tobi (University Hospital Antwerp (Bèlgica)) ;
Dillen, Lubina (University of Antwerp) ;
Heeman, Bavo (University of Antwerp) ;
Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ;
Lladó, Albert (Hospital Clínic i Provincial de Barcelona) ;
Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suecia)) ;
Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Pastor, Maria A. (Clínica Universidad de Navarra) ;
Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ;
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
de Mendonça, Alexandre (University of Lisbon) ;
Gelpi, Ellen (Hospital Clínic i Provincial de Barcelona) ;
Tsolaki, Magda (Aristotle University of Thessaloniki) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Nacmias, Benedetta (University of Florence) ;
Almeida, Maria Rosário (University of Coimbra) ;
Borroni, Barbara (University of Brescia) ;
Matej, Radoslav (Thomayer Hospital in Prague) ;
Ruiz, Agustín (Fundació ACE) ;
Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
De Deyn, Peter P. (University Hospital Antwerp (Bèlgica)) ;
Cruts, Marc (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Sleegers, Kristel (University of Antwerp) ;
Goeman, Johan ;
Nuytten, Dirk ;
Vandenbulcke, Mathieu ;
Santens, Patrick 700 1_ ;
Sieben, Anne ;
Dermaut, Bart ;
Versijpt, Jan ;
Michotte, Alex ;
Deryck, Olivier ;
Bergmans, Bruno ;
Willems, Christiana ;
Ivanoiu, Adrian ;
Salmon, Eric ;
Alexopoulos, Panagiotis (Technische Universität München) ;
Sorbi, Sandro ;
Bessi, Valentina ;
Bagnoli, Silvia ;
Santana, Isabel ;
Simões do Couto, Frederico ;
Martins, Madalena ;
Thonberg, Häkan ;
Fratiglioni, Laura ;
Padovani, Alessandro ;
Rohan, Zdenek ;
Razquin, Cristina ;
Lorenzo, Elena ;
Iglesias, Elena ;
Seijo-Martínez, Manuel ;
Rene, Ramon ;
Gascon, Jordi ;
Campdelacreu, Jaume ;
Koutroumani, Maria ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
TANK-binding kinase 1 (TBK1) loss-of-function (LoF) mutations are known to cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), often combined with memory deficits early in the disease course. [...]
2018 -  10.1016/j.neurobiolaging.2017.10.012
Neurobiology of Aging, Vol. 62 (february 2018) , p. 245.e1-245.e7
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15 p, 939.3 KB |
Evaluating the Genetics of Common Variable Immunodeficiency : Monogenetic Model and Beyond
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de Valles-Ibáñez, Guillem (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Esteve-Solé, Ana (Hospital Clínic i Provincial de Barcelona) ;
Piquer, Mònica (Hospital Clínic i Provincial de Barcelona) ;
González-Navarro, E. Azucena (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Hernandez-Rodriguez, Jessica (Universitat Pompeu Fabra) ;
Laayouni, Hafid (Universitat Pompeu Fabra) ;
González-Roca, Eva (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Plaza-Martin, Ana María (Hospital Clínic i Provincial de Barcelona) ;
Deyà-Martínez, Ángela (Hospital Clínic i Provincial de Barcelona) ;
Martín-Nalda, Andrea (Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies) ;
Martínez Gallo, Mónica (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Garcia-Prat, Marina (Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies) ;
del Pino-Molina, Lucía (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Cusco, Ivon (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Codina Solà, Marta (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Batlle-Masó, Laura (Universitat Pompeu Fabra) ;
Solís-Moruno, Manuel (Universitat Pompeu Fabra) ;
Marquès-Bonet, Tomàs (Barcelona Institute of Science and Technology (BIST)) ;
Bosch, Elena (Universitat Pompeu Fabra) ;
López-Granados, Eduardo (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Aróstegui, Juan Ignacio (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Soler-Palacín, Pere (Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies) ;
Colobrán Oriol, Roger (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Yagüe, Jordi (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Alsina Manrique, Laia (Hospital Clínic i Provincial de Barcelona) ;
Juan, Manel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Casals, Ferran (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut)
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis is made based on clinical and immunological criteria, after exclusion of other diseases that can cause similar phenotypes. [...]
2018 - 10.3389/fimmu.2018.00636
Frontiers in immunology, Vol. 9 (may 2018)
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18 p, 1.3 MB |
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
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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, M. (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
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
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Salpietro, Vincenzo (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ;
Dixon, Christine L. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Guo, Hui (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ;
Bello, Oscar D. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Vandrovcova, Jana (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Efthymiou, Stephanie (University College London) ;
Maroofian, Reza (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Heimer, Gali (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ;
Burglen, Lydie (Centre de Référence des Malformations et Maladies Congénitales du Cervelet. Département de Génétique et Embryologie Médicale. APHP. Hôpital Trousseau) ;
Valence, Stephanie (Centre de Référence des Malformations et Maladies Congénitales du Cervelet. Service de Neurologie Pédiatrique. APHP. Hôpital Trousseau) ;
Torti, Erin (GeneDx) ;
Hacke, Moritz (Biochemistry Center. Heidelberg University) ;
Rankin, Julia (Royal Devon and Exeter NHS Foundation Trust) ;
Tariq, Huma (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Colin, Estelle (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ;
Procaccio, Vincent (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ;
Striano, Pasquale (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ;
Mankad, Kshitij (Great Ormond Street Hospital for Children (Londres)) ;
Lieb, Andreas (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Chen, Sharon (Division of Medical Genetics. Northwell Health/Hofstra University SOM) ;
Pisani, Laura (Division of Medical Genetics. Northwell Health/Hofstra University SOM) ;
Bettencourt, Conceição (UCL Institute of Neurology (Regne Unit)) ;
Männikkö, Roope (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Manole, Andreea (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Brusco, Alfredo (Department of Medical Sciences. Medical Genetics Unit. University of Torino) ;
Grosso, Enrico (Department of Medical Sciences. Medical Genetics Unit. University of Torino) ;
Ferrero, Giovanni Battista (Department of Public Health and Pediatrics. University of Torino) ;
Armstrong, Judith (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Gueden, Sophie (Unit of Neuropediatrics. University Hospital) ;
Bar-Yosef, Omer (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ;
Tzadok, Michal (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ;
Monaghan, Kristin G. (GeneDx) ;
Santiago-Sim, Teresa (GeneDx) ;
Person, Richard E. (GeneDx) ;
Cho, Megan T. (GeneDx) ;
Willaert, Rebecca (GeneDx) ;
Yoo, Kristin (Department of Biomedical Sciences. Seoul National University) ;
Chae, Jong-Hee (Department of Pediatrics. Seoul National University) ;
Quan, Yingting (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ;
Wu, Huidan (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ;
Wang, Tianyun (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ;
Bernier, Raphael A. (Department of Psychiatry. University of Washington) ;
Xia, Kun (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ;
Blesson, Alyssa (Center for Autism and Related Disorders. Kennedy Krieger Institute) ;
Jain, Mahim (Center for Autism and Related Disorders. Kennedy Krieger Institute) ;
Motazacker, Mohammad M. (Department of Clinical Genetics. University of Amsterdam) ;
Jaeger, Bregje (Department of Pediatric Neurology. Amsterdam UMC) ;
Schneider, Amy L. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ;
Boysen, Katja (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ;
Muir, Alison M. (Department of Pediatrics. University of Washington) ;
Myers, Candance T. (Department of Pediatrics. Division of Genetic Medicine. University of Washington) ;
Gavrilova, Ralitza H. (Department of Clinical Genomics. Mayo Clinic) ;
Gunderson, Lauren (Department of Clinical Genomics. Mayo Clinic) ;
Schultz-Rogers, Laura (Department of Clinical Genomics. Mayo Clinic) ;
Klee, Eric W. (Department of Clinical Genomics. Mayo Clinic) ;
Dyment, David (Children's Hospital of Eastern Ontario Research Institute. University of Ottawa) ;
Osmond, Matthew (Genome Québec Innovation Center) ;
Parellada, Mara (Hospital General Universitario Gregorio Marañón) ;
Llorente, Cloe (Hospital General Universitario Gregorio Marañón) ;
González-Peñas, Javier (Hospital General Universitario Gregorio Marañón) ;
Carracedo, Ángel (Fundación Pública Galega de Medicina Xenómica) ;
Van Haeringen, Arie (Department of Clinical Genetics. Leiden University Medical Center) ;
Ruivenkamp, Claudia (Department of Clinical Genetics. Leiden University Medical Center) ;
Nava, Caroline (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ;
Heron, Delphine (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ;
Nardello, Rosaria (Department of Health Promotion,Mother and Child Care. Internal Medicine and Medical Specialities "G. D'Alessandro". University of Palermo) ;
Iacomino, Michele (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Minetti, Carlo (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ;
Skabar, Aldo (Institute for Maternal and Child Health. IRCCS "Burlo Garofolo". University of Trieste) ;
Fabretto, Antonella (Institute for Maternal and Child Health. IRCCS "Burlo Garofolo". University of Trieste) ;
Hanna, Michael (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Bugiardini, Enrico (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Hostettler, Isabel Charlotte (UCL Queen Square Institute of Neurology (Regne Unit)) ;
O'Callaghan, Benjamin (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Khan, Alaa (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Cortese, Andrea (UCL Queen Square Institute of Neurology (Regne Unit)) ;
O'Connor, Emer (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Yau, Wai Y. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Bourinaris, Thomas (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Kaiyrzhanov, Rauan (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Chelban, Viorica (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Madej, Monika (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Diana, Maria C. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ;
Vari, Maria S. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ;
Pedemonte, Marina (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ;
Bruno, Claudio (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ;
Balagura, Ganna (University of Genoa. Department of Neurosciences) ;
Scala, Marcello (University of Genoa. Department of Neurosciences) ;
Fiorillo, Chiara (University of Genoa. Department of Neurosciences) ;
Nobili, Lino (University of Genoa. Department of Neurosciences) ;
Malintan, Nancy T. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Zanetti, Maria N. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Krishnakumar, Shyam S. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Lignani, Gabriele (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Jepson, James E. C. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Broda, Paolo (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Baldassari, Simona (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Rossi, Pia (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Fruscione, Floriana (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Madia, Francesca (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Traverso, Monica (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
De-Marco, Patrizia (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron) ;
Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron) ;
Kriouile, Yamna (Children's Hospital of Rabat. University of Rabat) ;
El-Khorassani, Mohamed (Children's Hospital of Rabat. University of Rabat) ;
Karashova, Blagovesta (Department of Paediatrics. Medical University of Sofia) ;
Avdjieva, Daniela (Department of Paediatrics. Medical University of Sofia) ;
Kathom, Hadil (Department of Paediatrics. Medical University of Sofia) ;
Tincheva, Radka (Department of Paediatrics. Medical University of Sofia) ;
Van-Maldergem, Lionel (Centre of Human Genetics. University Hospital Liege) ;
Nachbauer, Wolfgang (Department of Neurology. Medical University Innsbruck) ;
Boesch, Sylvia (Department of Neurology. Medical University Innsbruck) ;
Gagliano, Antonella (Ospedale Pediatrico "A. Cao". Department of Biomedical Sciences. University of Cagliari) ;
Amadori, Elisabetta (Child and Adolescent Neuropsychiatry. University of Campania "Luigi Vanvitelli") ;
Goraya, Jatinder S. (Division of Paediatric Neurology. Dayanand Medical College & Hospital) ;
Sultan, Tipu (Department of Paediatric Neurology. Children's Hospital of Lahore) ;
Kirmani, Salman (Department of Medical Genetics. Aga Khan University Hospital. Karachi) ;
Ibrahim, Shahnaz (Department of Paediatric Neurology. Aga Khan University Hospital. Karachi) ;
Jan, Farida (Department of Paediatric Neurology. Aga Khan University Hospital. Karachi) ;
Mine, Jun (Department of Pediatrics. Shimane University School of Medicine) ;
Banu, Selina (Institute of Child Health and Shishu Shastho Foundation Hospital) ;
Veggiotti, Pierangelo (Vittore Buzzi Children's Hospital) ;
Zuccotti, Gian V. (Vittore Buzzi Children's Hospital) ;
Ferrari, Michel D.. (Leiden University Medical Center) ;
Van Den Maagdenberg, Arn M. J. (Leiden University Medical Center) ;
Verrotti, Alberto (Paediatric Department. San Salvatore Hospital. University of L'Aquila) ;
Marseglia, Gian Luigi (Department of Pediatrics. University of Pavia. IRCCS Policlinico "San Matteo") ;
Savasta, Salvatore (Department of Pediatrics. University of Pavia. IRCCS Policlinico "San Matteo") ;
Soler, Miguel A. (Computational Modelling of Nanoscale and Biophysical systems Laboratory. Italian Institute of Technology) ;
Scuderi, Carmela (Laboratorio di Neuropatologia Clinica. U.O.S. Malattie. Neuromuscolari Associazione OASI Maria SS. ONLUS - IRCCS) ;
Borgione, Eugenia (Laboratorio di Neuropatologia Clinica. U.O.S. Malattie. Neuromuscolari Associazione OASI Maria SS. ONLUS - IRCCS) ;
Chimenz, Roberto (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Gitto, Eloisa (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Dipasquale, Valeria (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Sallemi, Alessia (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Fusco, Monica (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Cuppari, Caterina (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Cutrupi, Maria C. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Ruggieri, Martino (Department of Clinical and Experimental Medicine. Section of Pediatrics and Child Neuropsychiatry. University of Catania) ;
Cama, Armando (Department of Neurosurgery. IRCCS Istituto Giannina Gaslini) ;
Capra, Valeria (Department of Neurosurgery. IRCCS Istituto Giannina Gaslini) ;
Mencacci, Niccolò Emanuele (Department of Neurology. Northwestern University Feinberg School of Medicine) ;
Boles, Richard (Courtagen Life Sciences) ;
Gupta, Neerja (All India Institute of Medical Sciences (Nova Delhi, Índia)) ;
Kabra, Madhulika (All India Institute of Medical Sciences (Nova Delhi, Índia)) ;
Papacostas, Savvas (The Cyprus Institute of Neurology and Genetics) ;
Zamba-Papanicolaou, Eleni (The Cyprus Institute of Neurology and Genetics) ;
Dardiotis, Efthimios (General University Hospital of Larissa (Grècia)) ;
Maqbool, Shazia (Department of Developmental and Behavioral Pediatrics. Children Hospital Complex and Institute of Child Health) ;
Rana, Nuzhat (Department of Pediatric Neurology. Children Hospital Complex and Institute of Child Health) ;
Atawneh, Osama (Hilal Pediatric Hospital Hebron. Hebron. West Bank) ;
Lim, Shen Y. (Department of Biomedical Science. Faculty of Medicine. University of Malaysia) ;
Shaikh, Mohmad Farooq (Jeffrey Cheah School of Medicine and Health Sciences. Monash University Malaysia) ;
Koutsis, George (Neurogenetics Unit. Neurology Department. Eginition Hospital. National and Kapodistrian University) ;
Breza, Marianthi (Neurogenetics Unit. Neurology Department. Eginition Hospital. National and Kapodistrian University) ;
Coviello, Domenico (Laboratorio di Genetica Umana. IRCCS Istituto Giannina Gaslini) ;
Dauvilliers, Yves (University Hospital of Montpellier (França)) ;
AlKhawaja, Issam (Albashir University Hospital) ;
AlKhawaja, Mariam (Prince Hamzah Hospital. Ministry of Health) ;
Al-Mutairi, Fuad (King Saud University) ;
Stojkovic, Tanya (Institute of Myology. Hôpital La Pitié Salpêtrière) ;
Ferrucci, Veronica (CEINGE. Biotecnologie Avanzate S.c.a.rl.) ;
Zollo, Massimo (CEINGE. Biotecnologie Avanzate S.c.a.rl.) ;
Alkuraya, Fowzan S (King Faisal Specialist Hospital and Research Centre (Aràbia Saudita)) ;
Kinali, Maria (The Portland Hospital) ;
Sherifa, Hamed (Assiut University Hospital) ;
Benrhouma, Hanene (Research Unit UR12 SP24. Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology) ;
Turki, Ilhem B. Y. (Research Unit UR12 SP24. Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology) ;
Tazir, Meriem (Laboratoire de Recherche en Neurosciences. Service de Neurologie) ;
Obeid, Makram (Department of Anatomy. Cell Biology and Physiology. American University of Beirut Medical Center) ;
Bakhtadze, Sophia (Department of Child Neurology. Tbilisi State Medical University) ;
Saadi, Marianthi W. (Baghdad College of Medicine. Children Welfare Teaching Hospital) ;
Zaki, Maha (Human Genetics and Genome Research Division. National Research Centre) ;
Triki, Chahnez C. (Child Neurology Department. Hedi Chaker hospital- Sfax Tunisia) ;
Benfenati, Fabio (Istituto Italiano di Tecnologia) ;
Gustincich, Stefano (Istituto Italiano di Tecnologia) ;
Kara, Majdi (Paediatric Neurology Unit. Department of Pediatrics. University of Tripoli) ;
Belcastro, Vincenzo (Neurology Unit. S. Anna Hospital) ;
Specchio, Nicola (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia)) ;
Capovilla, Giuseppe (Child Neuropsychiatry Department. Epilepsy Center. C. Poma Hospital) ;
Karimiani, Ehsan G. (Genetics Research Centre. Molecular and Clinical Sciences Institute. St George's. University of London. Cranmer Terrace) ;
Salih, Ahmed M. (Medical University of Duhok) ;
Okubadejo, Njideka (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ;
Ojo, Oluwadamilola (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ;
Oshinaike, Olajumoke O. (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ;
Oguntunde, Olapeju (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ;
Wahab, Kolawole Wasiu (University of Ilorin Teaching Hospital (UITH)) ;
Bello, Abiodun H. (University of Ilorin Teaching Hospital (UITH)) ;
Abubakar, Sanni (Ahmadu Bello University) ;
Obiabo, Yahaya (Delta State University Teaching Hospital) ;
Nwazor, Ernest (Federal Medical Centre) ;
Ekenze, Oluchi (University of Nigeria Teaching Hospital) ;
Williams, Uduak (University of Calabar Teaching Hospital) ;
Iyagba, Alagoma (University of Port Harcourt Teaching Hospital) ;
Taiwo, Lolade (Babcock University. Ilishan. Remo & Federal Medical Centre) ;
Komolafe, Morenikeji (Obafemi Awolowo University Teaching Hospital (OAUTH)) ;
Senkevich, Konstantin (Pavlov First Saint Petersburg State Medical University) ;
Shashkin, Chingiz (Kazakh National State University) ;
Zharkynbekova, Nazira (Shymkent Medical Academy) ;
Koneyev, Kairgali (Kazakh National State University) ;
Manizha, Ganieva (Avicenna Tajik State Medical University) ;
Isrofilov, Maksud (Avicenna Tajik State Medical University) ;
Guliyeva, Ulviyya (Mediclub clinic) ;
Salayev, Kamran (Azerbaijan State Medical University) ;
Khachatryan, Samson G. ("Somnus" Neurology Clinic Sleep and Movement Disorders Center) ;
Rossi, Salvatore (Department of Neurology. Università Cattolica del Sacro Cuore) ;
Silvestri, Gabriella (Department of Neurology. Università Cattolica del Sacro Cuore) ;
Haridy, Nourelhoda A. (Department of Neurology and Psychiatry. Assuit University Hospital) ;
Ramenghi, Luca A. (Neonatal Intensive Care Unit. Istituto Giannina Gaslini) ;
Xiromerisiou, Georgia (Department of Neurology. Medical School. University of Thessaly) ;
David, Emanuele (Radiology Unit. Papardo Hospital. Viale Ferdinando Stagno d'Alcontres. Contrada Papardo) ;
Aguennouz, M'hammed (Unit of Neurology and Neuromuscular Diseases. Department of Clinical and Experimental Medicine. University of Messina) ;
Fidani, Lliana (Department of Biology. Medical School. Aristotle University) ;
Spanaki, Cleanthe (Department of Neurology. Medical School. University of Crete) ;
Tucci, Arianna (William Harvey Research Institute. The NIHR Biomedical Research Centre at Barts. Queen Mary University London) ;
Raspall-Chaure, Miquel (Hospital Universitari Vall d'Hebron) ;
Chez, Michael (Neuroscience Medical Group. 1625 Stockton Boulevard. Suite 104) ;
Tsai, Anne (Department of Genetics and Inherited Metabolic diseases. Children's Hospital Colorado) ;
Fassi, Emily (Department of Pediatrics. Washington University School of Medicine) ;
Shinawi, Marwan (Department of Pediatrics. Washington University School of Medicine) ;
Constantino, John N. (William Greenleaf Eliot Division of Child & Adolescent Psychiatry. Department of Psychiatry. Washington University School of Medicine) ;
De Zorzi, Rita (Department of Chemical and Pharmaceutical Sciences. University of Trieste) ;
Fortuna, Sara (Department of Chemical and Pharmaceutical Sciences. University of Trieste) ;
Kok, Fernando (Mendelics Genomic Analysis) ;
Keren, Boris (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ;
Bonneau, Dominique (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ;
Choi, Murim (Department of Biomedical Sciences. Seoul National University) ;
Benzeev, Bruria (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ;
Zara, Federico (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Mefford, Heather C. (Department of Pediatrics. University of Washington) ;
Scheffer, Ingrid E. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ;
Clayton-Smith, Jill (Division of Evolution and Genomic Sciences. School of Biological Sciences. University of Manchester) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ;
Rothman, James E. (Department of Cell Biology. Yale University School of Medicine) ;
Eichler, Evan E (Howard Hughes Medical Institute. University of Washington) ;
Kullmann, Dimitri M. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Houlden, Henry (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Universitat Autònoma de Barcelona
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca-impermeable, with a linear relationship between current and trans-membrane voltage. [...]
2019 - 10.1038/s41467-019-10910-w
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 3094
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36 p, 10.5 MB |
Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism
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Malone, Samuel Andrew (Jean-Pierre Aubert Research Center) ;
Papadakis, Georgios E. (Lausanne University Hospital) ;
Messina, Andrea (Lausanne University Hospital) ;
Mimouni, Nour El Houda (Jean-Pierre Aubert Research Center) ;
Trova, Sara (Jean-Pierre Aubert Research Center) ;
Imbernon, Monica (Jean-Pierre Aubert Research Center) ;
Allet, Cecile (Jean-Pierre Aubert Research Center) ;
Cimino, Irene (Jean-Pierre Aubert Research Center) ;
Acierno, James (Lausanne University Hospital) ;
Cassatella, Daniele (Lausanne University Hospital) ;
Xu, Cheng (Lausanne University Hospital) ;
Quinton, Richard (University of Newcastle-upon-Tyne. Institute of Genetic Medicine) ;
Szinnai, Gabor (University Children's Hospital Basel (Basilea, Suïssa)) ;
Pigny, Pascal (Centre de Biologie Pathologie Génétique. Service Hormonologie Métabolisme Nutrition Oncologie) ;
Alonso-Cotchico, Lur (Universitat Autònoma de Barcelona. Departament de Química) ;
Masgrau, Laura (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Maréchal, Jean-Didier (Universitat Autònoma de Barcelona. Departament de Química) ;
Prevot, V. (Jean-Pierre Aubert Research Center) ;
Pitteloud, Nelly (Lausanne University Hospital) ;
Giacobini, Polo (Jean-Pierre Aubert Research Center)
Congenital hypogonadotropic hypogonadism (CHH) is a condition characterized by absent puberty and infertility due to gonadotropin releasing hormone (GnRH) deficiency, which is often associated with anosmia (Kallmann syndrome, KS). [...]
2019 - 10.7554/eLife.47198
eLife, Vol. 8 (2019) , art. e47198
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13 p, 1.2 MB |
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease
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De Roeck, Arne (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Van den Bossche, Tobi (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
van der Zee, Julie (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Verheijen, Jan (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
De Coster, Wouter (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Van Dongen, Jasper (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Dillen, Lubina (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Baradaran-Heravi, Yalda (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Heeman, Bavo (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ;
Llado Plarrumani, Albert (Hospital Clínic i Provincial de Barcelona) ;
Nacmias, Benedetta (University of Florence) ;
Sorbi, Sandro (University of Florence) ;
Gelpi, Ellen (Hospital Clínic i Provincial de Barcelona) ;
Grau-Rivera, Oriol (Hospital Clínic i Provincial de Barcelona) ;
Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ;
Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Ortega-Cubero, Sara (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Pastor, Maria A. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Graff, Caroline (Karolinska Institutet (Estocolm, Suècia). Center for Alzheimer Research) ;
Thonberg, Håkan (Karolinska Institutet (Estocolm, Suècia). Center for Alzheimer Research) ;
Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ;
Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ;
Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ;
de Mendonça, Alexandre (University of Lisbon, Portugal) ;
Martins, Madalena (University of Lisbon, Portugal) ;
Borroni, Barbara (Centre for Neurodegenerative Disorders, University of Brescia, Italy.) ;
Padovani, Alessandro (Centre for Neurodegenerative Disorders, University of Brescia, Brescia, Italy) ;
Almeida, Maria Rosário (Center for Neuroscience and Cell Biology, University of Coimbra, Portugal) ;
Santana, Isabel (University of Coimbra) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Alexopoulos, Panagiotis (Technische Universität München) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó, Alberto (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Fortea, Juan (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Tsolaki, Magda (Aristotle University of Thessaloniki) ;
Koutroumani, Maria (Aristotle University of Thessaloniki) ;
Matej, Radoslav (Charles University, Prague, Czech Republic) ;
Rohan, Zdenek (Charles University, Prague, Czech Republic) ;
De Deyn, Peter Paul (Institute Born-Bunge, University of Antwerp, Belgium) ;
Engelborghs, Sebastiaan (Institute Born-Bunge, University of Antwerp, Belgium) ;
Cras, Patrick (Institute Born-Bunge, University of Antwerp, Belgium) ;
Van Broeckhoven, Christine (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Sleegers, Kristel (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ;
Universitat Autònoma de Barcelona
Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk factor for late-onset Alzheimer's disease (LOAD). [...]
2017 - 10.1007/s00401-017-1714-x
Acta Neuropathologica, Vol. 134 (april 2017) , p. 475-487
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12 p, 849.5 KB |
A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease
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Verheijen, Jan (University of Antwerp. Institute Born-Bunge) ;
Van den Bossche, Tobi (University Hospital Antwerp (Bèlgica)) ;
van der Zee, Julie (University of Antwerp. Institute Born-Bunge) ;
Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ;
Sánchez Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Llado Plarrumani, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Thonberg, Håkan (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Ortega-Cubero, Sara (Complejo Asistencial Universitario de Palencia. Departamento de Neurología) ;
Pastor, Maria A. (Clínica Universidad de Navarra) ;
Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli (Brescia, Itàlia)) ;
Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli (Brescia, Itàlia)) ;
Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli (Brescia, Itàlia)) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Lleó Bisa, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
de Mendonça, Alexandre (University of Lisbon. Faculty of Medicine and Institute of Molecular Medicine) ;
Martins, Madalena (University of Lisbon. Faculty of Medicine and Institute of Molecular Medicine) ;
Grau-Rivera, Oriol (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Bettens, Karolien (University of Antwerp. Institute Born-Bunge) ;
Mateiu, Ligia (University of Antwerp. VIB) ;
Dillen, Lubina (University of Antwerp. Institute Born-Bunge) ;
Cras, Patrick (University Hospital Antwerp (Bèlgica)) ;
De Deyn, Peter Paul (University Hospital Antwerp (Bèlgica)) ;
Van Broeckhoven, Christine (University of Antwerp. Institute Born-Bunge) ;
Sleegers, Kristel (University of Antwerp. Institute Born-Bunge) ;
Universitat Autònoma de Barcelona
The sortilin-related receptor 1 (SORL1) gene has been associated with increased risk for Alzheimer's disease (AD). Rare genetic variants in the SORL1 gene have also been implicated in autosomal dominant early-onset AD (EOAD). [...]
2016 - 10.1007/s00401-016-1566-9
Acta Neuropathologica, Vol. 132 (march 2016) , p. 213-224
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