Resultats globals: 2 registres trobats en 0.02 segons.
Articles, 2 registres trobats
Articles 2 registres trobats  
1.
17 p, 2.5 MB Autoantibodies against type I IFNs in patients with life-threatening COVID-19 / Bastard, Paul (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ; Rosen, Lindsey B. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Zhang, Qian (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ; Michailidis, Eleftherios (The Rockefeller University. Laboratory of Virology and Infectious Disease) ; Hoffmann, Hans-Heinrich (The Rockefeller University. Laboratory of Virology and Infectious Disease) ; Zhang, Yu (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Dorgham, Karim (Sorbonne Université. Centre d'Immunologie et des Maladies Infectieuses) ; Philippot, Quentin (University of Paris. Imagine Institute) ; Rosain, Jérémie (University of Paris. Imagine Institute) ; Béziat, Vivien (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ; Manry, Jeremy (University of Paris. Imagine Institute) ; Shaw, Elana (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Haljasmägi, Liis (University of Tartu. Institute of Biomedicine and Translational Medicine) ; Peterson, Pärt (University of Tartu. Institute of Biomedicine and Translational Medicine) ; Lorenzo, Lazaro (University of Paris. Imagine Institute) ; Bizien, Lucy (University of Paris. Imagine Institute) ; Trouillet-Assant, Sophie (Lyon University. International Center of Research in Infectiology) ; Dobbs, Kerry (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Almeida de Jesus, Adriana (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Belot, Alexandre (Lyon Immunopathology Federation. Hospices Civils de Lyon) ; Kallaste, Anne (Internal Medicine Clinic. Tartu University Hospital) ; Catherinot, Emilie (Hôpital Foch) ; Tandjaoui-Lambiotte, Yacine (Avicenne Hospital. Assistance Publique Hôpitaux de Paris) ; Le Pen, Jérémie (The Rockefeller University. Laboratory of Virology and Infectious Disease) ; Kerner, Gaspard (University of Paris. Imagine Institute) ; Bigio, Benedetta (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ; Seeleuthner, Yoann (University of Paris. Imagine Institute) ; Yang, Rui (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ; Bolze, Alexandre (Helix) ; Spaan, András N. (University Medical Center Utrecht) ; Delmonte, Ottavia M. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Abers, Michael S. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Aiuti, Alessandro (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ; Casari, Giorgio (Medical Genetics. IRCCS Ospedale San Raffaele) ; Lampasona, Vito (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ; Piemonti, Lorenzo (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ; Ciceri, Fabio (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ; Bilguvar, Kaya (Yale University School of Medicine. Department of Genetics) ; Lifton, Richard P. (Rockefeller University. Laboratory of Human Genetics and Genomics) ; Vasse, Marc (Consorcio Hospital. General Universitario) ; Smadja, David M. (Paris University. European Georges Pompidou Hospital) ; Migaud, Mélanie (University of Paris. Imagine Institute) ; Hadjadj, Jérome (Hôpital Cochin. Department of Internal Medicine) ; Terrier, Benjamin (Université de Paris. Department of Internal Medicine) ; Duffy, Darragh (Pasteur Institute) ; Quintana-Murci, Lluis (Institut Pasteur. Collège de France) ; van de Beek, Diederik (Amsterdam UMC. University Medical Center) ; Roussel, Lucie (McGill University Health Centre) ; Vinh, Donald C. (McGill University Health Centre) ; Tangye, Stuart (Garvan Institute of Medical Research (Darlinghurst, Austràlia)) ; Haerynck, Filomeen (Ghent University Hospital. (Bèlgica)) ; Dalmau, David (Fundació Docència i Recerca Mútua Terrassa) ; Martínez Picado, Francisco Javier (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Brodin, Petter (Karolinska Institutet (Estocolm, Suècia)) ; Nussenzweig, Michel (Howard Hughes Medical Institute) ; Boisson-Dupuis, Stephanie (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ; Rodríguez-Gallego, Carlos (Hospital Universitario de Gran Canaria Dr. Negrín) ; Vogt, Guillaume (University of Paris. Neglected Human Genetics Laboratory) ; Mogensen, Trine Hyrup (Aarhus University) ; Oler, Andrew J. (Bioinformatics and Computational Biosciences Branch. Office of Cyber Infrastructure and Computational Biology. NIAID. NIH) ; Gu, Jingwen (Bioinformatics and Computational Biosciences Branch. Office of Cyber Infrastructure and Computational Biology. NIAID. NIH) ; Burbelo, Peter D. (Division of Intramural Research. National Institute of Dental Craniofacial Research (NIDCR). NIH) ; Cohen, Jeffrey I. (Laboratory of Infectious Diseases. Division of Intramural Research. NIAID. NIH) ; Biondi, Andrea (Pediatric Department. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBMOspedale) ; Bettini, Laura Rachele (Pediatric Department. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBMOspedale) ; D'Angio, Mariella (University of Milano-Bicocca. Pediatric Department) ; Bonfanti, Paolo (University of Milano-Bicocca. Department of Infectious Diseases) ; Rossignol, Patrick (University of Lorraine. Plurithematic Clinical Investigation Centre) ; Mayaux, Julien (APHP Pitié-Salpêtrière Hospital) ; Rieux-Laucat, Frédéric (Laboratory of Immunogenetics of Pediatric Autoimmune Diseases. INSERM. UMR 1163. University of Paris. Imagine Institute) ; Husebye, Eystein (Karolinska Institutet (Estocolm, Suècia). Department of Medicine) ; Fusco, Francesca (Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso'. IGB-CNR) ; Ursini, Matilde Valeria (Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso'. IGB-CNR) ; Imberti, Luisa (Centro di Ricerca Emato-oncologica AIL (CREA) Laboratory. Diagnostic Department. ASST Spedali Civili di Brescia) ; Sottini, Alessandra (Centro di Ricerca Emato-oncologica AIL (CREA) Laboratory. Diagnostic Department. ASST Spedali Civili di Brescia) ; Paghera, Simone (Centro di Ricerca Emato-oncologica AIL (CREA) Laboratory. Diagnostic Department. ASST Spedali Civili di Brescia) ; Quiros-Roldan, Eugenia (Department of Infectious and Tropical Diseases. University of Brescia. ASST Spedali di Brescia) ; Rossi, Camillo (Direzione Sanitaria. ASST Spedali Civili di Brescia) ; Castagnoli, Riccardo (Department of Pediatrics. Fondazione IRCCS Policlinico San Matteo. University of Pavia) ; Montagna, Daniela (Department of Clinical. Surgical. Diagnostic and Pediatric Sciences. University of Pavia) ; Licari, Amelia (Department of Pediatrics. Fondazione IRCCS Policlinico San Matteo. University of Pavia) ; Marseglia, Gian Luigi (Department of Pediatrics. Fondazione IRCCS Policlinico San Matteo. University of Pavia) ; Duval, Xavier (Centre d'Investigation Clinique. Inserm CIC 1425. Hôpital Bichat Claude Bernard. APHP) ; Ghosn, Jade (Hôpital Bichat) ; Tsang, John S. (Multiscale Systems Biology Section. Laboratory of Immune System Biology. NIAID. NIH) ; Goldbach-Mansky, Raphaela (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Kisand, Kai (Institute of Biomedicine and Translational Medicine. University of Tartu) ; Lionakis, Michail S. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Puel, Anne (St. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. The Rockefeller University) ; Zhang, Shein-Ying (St. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. The Rockefeller University) ; Holland, Steven M. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Gorochov, Guy (Département d'Immunologie. AP-HP. Hôpital Pitié-Salpétrière) ; Jouanguy, Emmanuelle (St. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. The Rockefeller University) ; Rice, Charles M. (Laboratory of Virology and Infectious Disease. The Rockefeller University) ; Cobat, Aurélie (St. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. The Rockefeller University) ; Notarangelo, Luigi (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Abel, Laurent (St. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. The Rockefeller University) ; Su, Helen C. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ; Casanova, Jean-Laurent (Pediatric Hematology and Immunology Unit. Necker Hospital for Sick Children. AP-HP) ; The University of Hong Kong HGID Lab ; The University of Hong Kong NIAID-USUHS Immune Response to COVID Group ; COVID Clinicians ; COVID-STORM Clinicians ; Imagine COVID Group ; French COVID Cohort Study Group ; The Milieu Intérieur Consortium ; CoV-Contact Cohort ; Amsterdam UMC Covid-19 Biobank ; COVID Human Genetic Effort ; Universitat Autònoma de Barcelona
Interindividual clinical variability in the course of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is vast. We report that at least 101 of 987 patients with life-threatening coronavirus disease 2019 (COVID-19) pneumonia had neutralizing immunoglobulin G (IgG) autoantibodies (auto-Abs) against interferon-w (IFN-w) (13 patients), against the 13 types of IFN-a (36), or against both (52) at the onset of critical disease; a few also had auto-Abs against the other three type I IFNs. [...]
2020 - 10.1126/science.abd4585
Science, Vol. 370 Núm. 6515 (september 2020) , p. eabd4585  
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  

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