| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | 2019 | Clinical presentation and proteomic signature of patients with TANGO2 mutations | Mingirulli, 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, Rita | artículo |
| openAccess |  | 2020 | Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia | Verdura, Edgard; Font, Carme; Schlüter, Agatha; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas, Carlos; Castellano, Antonio CSIC ORCID; Pujol, Aurora | artículo |
| openAccess |  | 21-ago-2020 | Expanding the clinical and genetic spectrum of PCYT2-related disorders | Vélez-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, Aurora | artículo |
| openAccess |  | 24-sep-2020 | Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 | Zhang, 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 Nur | artículo |
| openAccess |  | 17-jul-2023 | RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia | Launay, Nathalie; Ruiz, Montserrat; Planas-Serra, Laura; Verdura, Edgard; Rodríguez-Palmero, Agustí; Schlüter, Agatha; Goicoechea, Leire CSIC ORCID; Guilera, Cristina; Casas, Josefina CSIC ORCID ; Campelo, Felix; Jouanguy, Emmanuelle; Casanova, Jean-Laurent; Boespflug-Tanguy, Odile; Vazquez Cancela, Maria; Gutiérrez-Solana, Luis González; Casasnovas, Carlos; Area-Gomez, Estela CSIC ORCID; Pujol, Aurora | artículo |
| closedAccess |  | 2016 | Targeted activation of CREB in reactive astrocytes is neuroprotective in focal acute cortical injury | Pardo, Luis A.; Schlüter, Agatha; Valor, Luis Miguel CSIC ORCID; Barco, Ángel CSIC ORCID ; Giralt, Mercedes; Golbano, Arantxa; Hidalgo, Juan; Jia, Peilin; Zhao, Zhongming; Jové, Mariona; Portero-Otín, Manuel; Ruiz, Montserrat; Giménez-Llort, Lydia; Masgrau, Roser; Pujol, Aurora; Galea, Elena | artículo |
| openAccess |  | 20-may-2020 | The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy | Coppa, 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, Aurora | artículo |
