Browsing by Author Pujol Onofre, Aurora
Showing results 1 to 11 of 11
| Issue Date | Title | Author(s) |
|---|---|---|
| 1-Jan-2020 | A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases | Verdura, Edgard; Schlüter, Agatha; Fernández Eulate, Gorka; Ramos-Martín, Raquel; Zulaica, Miren; Planas Serra, Laura; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas Pons, Carlos; López de Munain, Adolfo; Pujol Onofre, Aurora |
| 19-Apr-2022 | Accelerated biological aging in COVID-19 patients | Cao, Xue; Li, Wenjuan; Wang, Ting; Ran, Dongzhi; Davalos, Veronica; Planas Serra, Laura; Pujol Onofre, Aurora; Esteller, Manel; Wang, Xiaolin; Yu, Huichuan |
| 6-Aug-2020 | Case Report: Benign Infantile Seizures Temporally Associated With COVID-19 | García Howard, Marcos; Herranz Aguirre, Mercedes; Moreno Galarraga, Laura; Urretavizcaya Martínez, María; Alegría Echauri, Josune; Gorría Redondo, Nerea; Planas Serra, Laura; Schlüter, Agatha; Gut, Marta; Pujol Onofre, Aurora; Aguilera Albesa, Sergio |
| 13-Aug-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 Ignacio; García Cazorla, Àngels; Gross, Claudia; O'Callaghan, Maria; Santra, Saikat; Preece, Maryanne A.; Champion, Michael; Korenev, Sergei; Chronopoulou, Efsthatia; Anirban, Majumdar; Pierre, Germaine; McArthur, Daniel; Thompson, Kyle; Navas, Placido; Ribes Rubió, Maria Antònia; Tort, Frederic; Schlüter, Agatha; Pujol Onofre, Aurora; Montero, Raquel; Sarquella, Georgia; Lochmüller, Hanns; Jiménez Mallebrera, Cecilia; Taylor, Robert W.; Artuch Iriberri, Rafael; Kirschner, Janbernd; Grünert, Sarah C.; Roos, Andreas; Horvath, Rita |
| 2020 | Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia | Verdura, Edgard; Fons, Carme; Schlüter, Agatha; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas Pons, Carlos; Castellano, Antonio; Pujol Onofre, Aurora |
| 1-Jan-2015 | Deregulation of purine metabolism in Alzheimer's disease | Ansoleaga, Belén; Jove, Mariona; Schlüter, Agatha; Garcia Esparcia, Paula; Moreno Castro, Jesús; Pujol Onofre, Aurora; Pamplona, Reinald; Portero Otin, Manuel; Ferrer, Isidro (Ferrer Abizanda) |
| 10-Feb-2023 | Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children | Lee, Danyel; Le Pen, Jérémie; Yatim, Ahmad; Dong, Beihua; Aquino, Yann; Ogishi, Masato; Pescarmona, Rémi; Talouarn, Estelle; Rinchai, Darawan; Zhang, Peng; Perret, Magali; Dalgard, Clifford L.; Bustamante, Jacinta; Puel, Anne; Boisson-Dupuis, Stéphanie; Boisson, Bertrand; Maniatis, Tom; Zhang, Qian; Bastard, Paul; Notarangelo, Luigi D.; Béziat, Vivien; Perez De Diego, Rebeca; Rodriguez Gallego, Carlos; Su, Helen C.; Lifton, Richard P.; Jouanguy, Emmanuelle; Cobat, Aurélie; Alsina, Laia; Keles, Sevgi; Haddad, Elie; Casanova, Jean-Laurent; Abel, Laurent; Belot, Alexandre; Zhang, Shen-Ying; Quintana Murci, Lluis; Silverman, Robert H.; Rice, Charles M.; Liu, Zhiyong; Jordan Garcia, Iolanda; Elmas Bozdemir, Sefika; Bayhan, Gulsum Iclal; Beaufils, Camille; Bizien, Lucy; Bisiaux, Aurelie; Lei, Weite; Hasan, Milena; Chen, Jie; Gaughan, Christina; Asthana, Abhishek; Libri, Valentina; Luna, Joseph M.; Jaffré, Fabrice; Hoffmann, Heinrich H.; Michailidis, Eleftherios; Moreews, Marion; Seeleuthner, Yoann; Bilguvar, Kaya; Mane, Shrikant; Flores, Carlos; Zhang, Yu; Arias, Andrés A.; Bailey, Rasheed; Schlüter, Agatha; Milisavljevic, Baptiste; Bigio, Benedetta; Anton Lopez, Jordi; Le Voyer, Tom; Materna, Marie; Gervais, Adrian; Moncada Velez, Marcela; Pala, Francesca; Lazarov, Tomi; Levy, Romain; Neehus, Anna-Lena; Rosain, Jérémie; Peel, Jessica; Chan, Yi-Hao; Morin, Marie-Paule; Pino Ramírez, Rosa Maria; Belkaya, Serkan; Lorenzo, Lazaro; Delafontaine, Selket; Toubiana, Julie; Bajolle, Fanny; Fumadó, Victoria; DeDiego, Marta L.; Fidouh, Nadhira; Rozenberg, Flore; Pérez Tur, Jordi; Chen, Shuibing; Evans, Todd; Geissmann, Frédéric; Lebon, Pierre; Weiss, Susan R.; Bonnet, Damien; Duval, Xavier; CoV-Contact Cohort; COVID Human Genetic Effort; Pan-Hammarström, Qiang; Planas Obradors, Anna M.; Meyts, Isabelle; Haerynck, Filomeen; Pujol Onofre, Aurora; Sancho Shimizu, Vanessa |
| 16-Jun-2021 | Regulation of lipid and redox metabolism in X-linked Adrenoleukodystrophy (X-ALD): therapeutic implications | Goicoechea Barrenechea, Leire |
| 23-May-2023 | Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity | Planas Serra, Laura; Launay, Nathalie; Goicoechea, Leire; Heron, Bénédicte; Jou, Cristina; Juliá Palacios, Natalia; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas Pons, Carlos; Torre, Carolina de la; Gelot, Antoinette; Marsal, Maria; Loza Álvarez, Pablo; García Cazorla, Àngels; Fatemi, Ali; Ferrer, Isidro (Ferrer Abizanda); Portero Otin, Manuel; Area Gómez, Estela; Pujol Onofre, Aurora |
| Feb-2017 | Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy | Launay, Nathalie; Ruiz, Montserrat; Grau, Laia; Ortega González, Fco. Javier; Ilieva, Ekaterina V.; Martínez, Juan José; Galea, Elena; Ferrer, Isidro (Ferrer Abizanda); Knecht, Erwin; Pujol Onofre, Aurora; Fourcade, Stéphane |
| 14-Jun-2022 | Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs | Bastard, Paul; Rocamora Blanch, Gemma; Pujol Onofre, Aurora; Martinez Picado, Javier; Solanich, Xavier; Anderson, Mark S.; Casanova, Jean Laurent; Derisi, Joseph L.; Antolí, Arnau |