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Browsing by Author Pujol, Aurora

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Showing results 1 to 11 of 11
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openAccesssciimmunol.abl4340.pdf.jpg19-Aug-2021Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deathsBastard, Paul; Gervais, Adrian; Le Voyer, Tom; Rosain, Jérémie; Philippot, Quentin; Manry, Jérémy; Michailidis, Eleftherios; Hoffmann, Hans-Heinrich; Eto, Shohei; García-Prat, Marina; Bizien, Lucy; Parra-Martínez, Alba; Yang, Rui; Haljasmägi, Liis; Migaud, Mélanie; Särekannu, Karita; Maslovskaja, Julia; Prost, Nicolas de; Tandjaoui-Lambiotte, Yacine; Luyt, Charles-Edouard; Amador-Borrero, Blanco; Gaudet, Alexandre; Poissy, Julien; Morel, Pascal; Richard, Pascale; Cognasse, Fabrice; Troya, Jesús; Trouillet-Assant, Sophie; Belot, Alexandre; Saker, Kahina; Garçon, Pierre; Rivière, Jacques G.; Lagier, Jean-Christophe; Gentile, Stephanie; Rosen, Lindsey B.; Shaw, Elana; Morio, Tomohiro; Tanaka, Junko; Dalmau, David; Tharaux, Pierre-Louis; Sene, Damien; Stépanian, Alain; Mégarbane, Bruno; Triantafyllia, Vasiliki; Fekkar, Arnaud; Heath, James R.; Franco, José Luis; Anaya, Juan Manuel; Solé, Jordi CSIC ORCID; Imberti, Luisa; Biondi, Andrea; Bonfanti, Paolo; Castagnoli, Riccardo; Delmonte, Ottavia M.; Zhang, Yu; Snow, Andrew L.; Holland, Steven M.; Biggs, Catherine M.; Moncada-Velez, Marcela; Arias, Andrés Augusto; Lorenzo, Lazaro; Boucherit, Soraya; Coulibaly, Boubacar; Anglicheau, Dany; Planas, Anna M. CSIC ORCID; Haerynck, Filomeen; Duvlis, Sotirija; Nussbaum, Robert; Ozcelik, Tayfun; Keles, Sevgi; Bousfiha, Ahmed Aziz; El Bakkouri, Jalila; Ramírez-Santana, Carolina; Paul, Stephanie; Pan-Hammarström, Qiang; Hammarström, Lennart; Dupont, Annabelle; Kurolap, Alina; Metz, Christine N.; Aiuti, Alessandro; Casari, Giorgio; Lampasona, Vito; Ciceri, Fabio; Barreiros, Lucila; Domínguez-Garrido, Elena; Vidigal, Mateus; Zatz, Mayana; Beek, Diederik van der; Sahanic, Sabina; Tancevski, Ivan; Stepanovskyy, Yuriy; Boyarchuk, Oksana; Nukui, Yoko; Tsumura, Miyuki; Vidaur, Loreto; Tangye, Stuart G.; Burrel, Sonia; Duffy, Darragh; Quintana-Murci, Lluis; Klocperk, Adam; Kan, Nelli; Shcherbina, Anna; Lau, Yu-Lung; Leung, Daniel; Coulongeat, Matthieu; Marlet, Julien; Koning, Rutger; Reyes, Luis Felipe; Chauvineau-Grenier, Angélique; Venet, Fabienne; Monneret, Guillaume; Nussenzweig, Michel C.; Arrestier, Romain; Boudhabhay, Idris; Baris, Hagit N.; Hagin, David; Wauters, Joost; Meyts, Isabelle; Dyer, Adam; Kennelly, Sean p.; Bourke, Nollaig; Halwani, Rabih; Sharif-Askari, Narjes Saheb; Dorgham, Karim; Sallette, Jerome; Mehlal-Sedkaoui, Souad; Alkhater, Suzan; Rigo-Bonnin, Raúl; Morandeira, Francisco; Roussel, Lucie; Vinh, Donald C.; Ostrowski, Sisse Rye; Condino-Neto, Antonio; Prando, Carolina; Bondarenko, Anastasiia; Spaan, András N.; Gilardin, Laurent; Fellay, Jacques; Lyonnet, Stanislas; Bilguvar, Kaya; Lifton, Richard P.; Mane, Shrikant M.; HGID Lab; COVID Clinicians; COVID-STORM Clinicians; NIAID Immune Response to COVID Group; NH-COVAIR Study Group; Danish CHGE; Danish Blood Donor Study; St. James's Hospital; SARS CoV2 Interest Group; French COVID Cohort Study Group; Imagine COVID Group; The Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19 Biobank; COVID Human Genetic Effort; Constances Cohort; 3C Dijon Study; Cerba HealthCare; Etablissement du Sang Study Group; Anderson, MarK S.; Boisson, Bertrand; Béziat, Vivien; Zhang, Shen-Ying; Andreakos, Evangelos; Hermine, Olivier; Pujol, Aurora; Peterson, Pärt; Mogensen, Trine; Rowen, Lee; Mond, James; Debette, Stephanie; Lamballerie, Xavier de; Duval, Xavier; Mentre, France; Zins, Marie; Soler-Palacín, Pere; Colobran, Roger; Gorochov, Guy; Solanich, Xavier; Susen, Sophie; Martínez-Picado, Javier; Raoult, Didier; Vasse, Marc; Gregersen, Peter K.; Piemonti, Lorenzo; Rodríguez-Gallego, Carlos; Notarangelo, Luigi D.; Su, Helen C.; Kisand, Kai; Okada, Satoshi; Puel, Anne; Jouanguy, Emmanuelle; Rice, Charles M.; Tiberghien, Pierre; Zhang, Qian; Cobat, Aurélie; Abel, Laurent; Casanova, Jean-Laurentartículo
closedAccessaccesoRestringido.pdf.jpg2019Clinical presentation and proteomic signature of patients with TANGO2 mutationsMingirulli, Nadja; Pyle, Angela; Hathazi, Denisa; Alston, Charlotte L.; Kohlschmidt, Nicolai; O'Grady, Gina; Waddell, Leigh; Evesson, Frances; Cooper, Sandra B. T.; Turner, Christian; Duff, Jennifer; Topf, Ana; Yubero, Delia; Jou, Cristina; Nascimento, Andrés; Ortez, Carlos; García‐Cazorla, Angels; Gross, Claudia; O'Callaghan, María; Santra, Saikat; Preece, Maryanne A.; Champion, Michael; Korenev, Sergei; Chronopoulou, Efsthatia; Anirban, Majumdar; Pierre, Germaine; McArthur, Daniel; Kyle, Thompson; Navas, Plácido CSIC ORCID; Ribes, Antonia; Tort, Frederic; Schlüter, Agatha; Pujol, Aurora; Montero, Raquel; Sarquella, Georgia; Lochmüller, Hanns; Jiménez‐Mallebrera, Cecilia; Taylor, Robert W.; Artuch, Rafael; Kirschner, Janbernd; Grünert, Sarah C.; Roos, Andreas; Horvath, Ritaartículo
openAccessKCNA1_activity.pdf.jpg2020Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesiaVerdura, Edgard; Font, Carme; Schlüter, Agatha; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas, Carlos; Castellano, Antonio; Pujol, Auroraartículo
openAccessPIIS2352396421001328.pdf.jpg17-Apr-2021Epigenome-wide association study of COVID-19 severity with respiratory failureCastro de Moura, Manuel; Davalos, Veronica; Planas-Serra, Laura; Álvarez-Errico, Damiana; Arribas, Carles; Ruiz, Montserrat; Aguilera-Albesa, Sergio; Troya, Jesús; Valencia-Ramos, Juan; Vélez-Santamaría, Valentina; Rodríguez-Palmero, Agustí; Villar-García, Judit; Horcajada, Juan Pablo; Albu, Sergiu; Casasnovas, Carlos; Rull, Anna; Reverté, Laia; Dietl, Beatriz; Dalmau, David; Arranz, Maria J.; Llucià-Carol, Laia; Planas, Anna M. CSIC ORCID; Pérez-Tur, Jordi CSIC ORCID ; Fernández-Cadenas, Israel; Villares, Paula; Tenorio, Jair; Colobran, Roger; Martin-Nalda, Andrea; Soler-Palacín, Pere; Vidal, Francesc; Pujol, Aurora; Esteller, Manelartículo
closedAccessaccesoRestringido.pdf.jpgMar-2015Essential role of hypodermal PMP-4 in regulating axon morphology and locomotion in a Caenorhabditis elegans modelo of X-ALDCoppa, Andrea; Guha, Sanjib K.; Miranda-Vizuete, Antonio CSIC ORCID; Ruiz, Montserrat; Fourcade, Stéphane; Pujol, Aurora; Dalfó, Esthercomunicación de congreso
openAccessawaa229_supplementary_material.pdf.jpg21-Aug-2020Expanding the clinical and genetic spectrum of PCYT2-related disordersVélez-Santamaría, Valentina; Ventura, Edgar; Macmurdo, Colleen; Planas-Serra, Laura; Schlüter, Agatha; Casas, Josefina CSIC ORCID ; Martínez, Juan José; Casasnovas, Carlos; Si, Yue; Thompson, Stephanie S.; Maroofian, Reza; Pujol, Auroraartículo
closedAccessaccesoRestringido.pdf.jpg8-Jun-2021Harnessing Type I IFN Immunity Against SARS-CoV-2 with Early Administration of IFN-βVinh, Donald C.; Abel, Laurent; Bastard, Paul; Cheng, Matthew P.; Condino-Neto, Antonio; Gregersen, Peter K.; Haerynck, Filomeen; Cicalese, Maria P.; Hagin, David; Soler-Palacín, Pere; Planas, Anna M. CSIC ORCID; Pujol, Aurora; Notarangelo, Luigi D.; Zhang, Qian; Su, Helen C.; Casanova, Jean-Laurent; Meyts, Isabelle; COVID Human Genetic Effortcomentario
closedAccessaccesoRestringido.pdf.jpg2013Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophyLópez-Erauskin, Jone; Galino, Jorge; Ruiz, Montserrat; Cuezva, José M. CSIC ORCID; Fabregat, Isabel; Cacabelos, D.; Boada, J.; Martínez, J.; Ferrer, Isidro; Pamplona, Reinald; Villarroya, Francesc; Portero-Otín, Manuel; Fourcadeand, S.; Pujol, Auroraartículo
openAccessInborn errors of type I IFN immunity in patients with life-threatening COVID-19.pdf.jpg24-Sep-2020Inborn errors of type I IFN immunity in patients with life-threatening COVID-19Zhang, Qian; Bastard, Paul; Liu, Zhiyong; Le Pen, Jeremie; Moncada-Velez, Marcela; Chen, Jie; Ogishi, Masato; Sabli, Ira K. D.; Hodeib, Stephanie; Korol, Cecilia; Rosain, Jérémie; Rodríguez-Gallego, Carlos; Novelli, Giuseppe; Hraiech, Sami; COVID Human Genetic Effort; Tandjaoui-Lambiotte, Yacine; Duval, Xavier; Ciancanelli, Michael J.; Laouénan, Cédric; COVID-STORM Clinicians; COVID Clinicians; Gorochov, Guy; Imagine COVID Group; French COVID Cohort Study Group; NIAID-USUHS/TAGC COVID Immunity Group; Snow, Andrew L.; Dalgard, Clifton L.; Milner, Joshua D.; Vinh, Donald C.; Meyts, Isabelle; Mogensen, Trine; Marr, Nico; Béziat, Vivien; Bilguvar, Kaya; Spaan, András N.; Boisson, Bertrand; Boisson-Dupuis, Stéphanie; Bustamante, Jacinta; Maniatis, Tom; Soumelis, Vassili; Amara, Ali; Ye, Junqiang; Nussenzweig, Michel C.; Jouanguy, Emmanuelle; García-Sastre, Adolfo; Krammer, Florian; Smith, Nikaïa; Pujol, Aurora; Duffy, Darragh; Lifton, Richard P.; Zhang, Shen-Ying; Bolze, Alexandre; Sancho-Shimizu, Vanessa; Rice, Charles M.; Schneider, William M.; Abel, Laurent; Notarangelo, Luigi D.; Cobat, Aurélie; Zhang, Peng; Su, Helen C.; Casanova, Jean-Laurent; Bigio, Benedetta; Yang, Rui; Arias, Andrés Augusto; Zhou, Qinhua; Zhang, Yu; Razooky, Brandon S.; Onodi, Fanny; Korniotis, Sarantis; Rapaport, Franck; Karpf, Lea; Philippot, Quentin; Chbihi, Marwa; Bonnet-Madin, Lucie; Dorgham, Karim; Hoffmann, Hans-Heinrich; Michailidis, Eleftherios; Moens, Leen; Han, Jin Eun; Lorenzo, Lazaro; Seeleuthner, Yoann; Bizien, Lucy; Meade, Philip; Biondi, Andrea; Neehus, Anna-Lena; Ugurbil, Aileen Camille; Corneau, Aurélien; Kerner, Gaspard; Manry, Jérémy; Masson, Cecile; Schmitt, Yoann; Bettini, Laura Rachele; Schlüter, Agatha; Le Voyer, Tom; Khan, Taushif; Smits, Guillaume; Li, Juan; Fellay, Jacques; Roussel, Lucie; Shahrooei, Mohammad; Alosaimi, Mohammed F.; Mansouri, Davood; Al-Saud, Haya; D'Angio, Mariella; Al-Mulla, Fahd; Almourfi, Feras; Migeotte, Isabelle; Al-Muhsen, Saleh Zaid; Alsohime, Fahad; Al Turki, Saeed; Hasanato, Rana; Beek, Diederik van der; Bonfanti, Paolo; Imberti, Luisa; Sottini, Alessandra; Paghera, Simone; Quiros-Roldan, Eugenia; Haerynck, Filomeen; Rossi, Camillo; Oler, Andrew J.; CoV-Contact Cohort; Tompkins, Miranda F.; Alba, Camille; Vandernoot, Isabelle; Goffard, Jean-Christophe; Soler-Palacín, Pere; Martin-Nalda, Andrea; Colobran, Roger; Amsterdam UMC Covid-19 Biobank; Morange, Pierre-Emmanuel; Keles, Sevgi; Çölkesen, Fatma; Puel, Anne; Ozcelik, Tayfun; Yasar, Kadriye Kart; Senoglu, Sevtap; Karabela, Şemsi Nurartículo
openAccessFRBM_2019_1867_Revision 1_V0_R1.pdf.jpg20-May-2020The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophyCoppa, Andrea; Guha, Sanjib K.; Fourcade, Stéphane; Parameswaran, Janani; Ruiz, Montserrat; Moser, Ann B.; Schlüter, Agatha; Murphy, Michael P.; Lizcano, J. M.; Miranda-Vizuete, Antonio CSIC ORCID; Dalfó, Esther; Pujol, Auroraartículo
openAccess; openAccessValue_Murillo_PV_Art2020.pdf.jpg14-Oct-2020The Value of Mouse Models of Rare Diseases: A Spanish ExperienceMurillo-Cuesta, Silvia CSIC ORCID; Artuch, Rafael; Asensio, Fernando; Villa, Pedro de la; Dierssen, M.; Enríquez, José Antonio; Fillat, Cristina; Fourcade, Stéphane; Ibáñez, Borja; Montoliu, Lluís CSIC ORCID ; Oliver, Eduardo; Pujol, Aurora; Salido, Eduardo; Vallejo, Mario CSIC ORCID; Varela-Nieto, Isabel CSIC ORCID artículo