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Articles, 3 records found
Articles 3 records found  
1.
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  
2.
16 p, 3.4 MB AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders / 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  
3.
36 p, 10.5 MB Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism / 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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