Browsing by Author Pujol Onofre, Aurora
Showing results 9 to 28 of 46
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| Issue Date | Title | Author(s) |
|---|---|---|
| 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 |
| Jul-2010 | Current and Future Pharmacological Treatment Strategies in X-linked Adrenoleukodystrophy | Berger, Johannes; Pujol Onofre, Aurora; Aubourg, Patrick; Forss-Petter, Sonja |
| 1-May-2013 | Cyclophilin D as a potential target for antioxidants in neurodegeneration: the X-ALD case | López Erauskin, Jone; Ferrer, Isidro (Ferrer Abizanda); Galea, Elena; 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) |
| 3-Jan-2018 | Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia | Guissart, Claire; Latypova, Xenia; Rollier, Paul; Khan, Tahir N.; Stamberger, Hannah; McWalter, Kirsty; Cho, Megan T.; Kjaergaard, Susanne; Weckhuysen, Sarah; Lesca, Gaetan; Besnard, Thomas; Õunap, Katrin; Schema, Lynn; Chiocchetti, Andreas G.; Mcdonald, Marie; Bellescize, Julitta de; Vincent, Marie; Van Esch, Hilde; Sattler, Shannon; Forghani, Irman; Thiffault, Isabelle; Freitag, Christine M.; Barbouth, Deborah Sara; Cadieux-Dion, Maxime; Willaert, Rebecca; Guillen Sacoto, Maria J.; Safina, Nicole P.; Dubourg, Christèle; Grote, Lauren; Carre, Wilfrid; Saunders, Carol; Pajusalu, Sander; Farrow, Emily; Boland, Anne; Karlowicz, Danielle Hays; Deleuze, Jean-François; Wojcik, Monica H.; Pressman, Rena; Isidor, Bertrand; Vogels, Annick; Van Paesschen, Wim; Al-Gazali, Lihadh; Mohamed Al Shamsi, Aisha; Claustres, Mireille; Pujol Onofre, Aurora; Sanders, Stephan; Rivier, François; Leboucq, Nicolas; Cogne, Benjamin; Sasorith, Souphatta; Sanlaville, Damien; Retterer, Kyle; Odent, Sylvie; Katsanis, Nicholas; Bézieau, Stéphane; Koenig, Michel; Davis, Erica E.; Pasquier, Laurent; Küry, Sébastien |
| 1-Apr-2021 | Epigenome-wide association study of COVID-19 severity with respiratory failure | Castro de Moura, Manuel; Davalos, Veronica; Planas Serra, Laura; Alvarez Errico, Damiana; Arribas, Carles; Ruiz, Montserrat; Aguilera Albesa, Sergio; Troya, Jesús; Valencia Ramos, Juan; Vélez Santamaria, Valentina; Rodríguez Palmero, Agustí; Villar García, Judit; Horcajada, Juan Pablo; Albu, Sergiu; Casasnovas Pons, Carlos; Rull, Anna; Reverte, Laia; Dietl, Beatriz; Dalmau, David; Arranz, Maria J.; Llucià-carol, Laia; Planas, Anna M.; Pérez Tur, Jordi; Fernández Cadenas, Israel; Villares, Paula; Tenorio, Jair; Colobran, Roger; Martin Nalda, Andrea; Soler Palacín, Pere; Vidal, Francesc; Pujol Onofre, Aurora; Esteller, Manel |
| 24-Feb-2018 | Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation | Schlüter, Agatha; Sandoval, Juan; Fourcade, Stéphane; Díaz Lagares, Angel; Ruiz, Montserrat; Casaccia, Patrizia; Esteller, Manel; Pujol Onofre, Aurora |
| 1-Jul-2023 | Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number | Oliva, Clara; Arias, Ángela; Ruiz, Montserrat;; Pujol Onofre, Aurora; Garrabou Tornos, Glòria; Cantó Santos, Judith; Urreizti, Roser; Castilla Vallmanya, Laura; Rodríguez González, Helena; Jou, Cristina; Casado Río, Mercedes; Ormazabal Herrero, Aida; Artuch Iriberri, Rafael |
| 1-Apr-2018 | Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes | Rotroff, Daniel M.; Pijut, Sonja S.; Skylar W.; Jack, John R.; Havener, Tammy M.; Pujol Onofre, Aurora; Schlüter, Agatha; Graf, Gregory A.; Ginsberg, Henry N.; Shah, Hetal S.; Gao, He; Morieri, Mario-Luca; Doria, Alessandro; Mychaleckyi, Josyf C.; Mcleod, Howard L.; Buse, John B.; Wagner, Michael J.; Motsinger-Reif, Alison A.; ACCORD/ACCORDion Investigators |
| 26-Jul-2013 | Histone Deacetylase Inhibitor Upregulates Peroxisomal Fatty Acid Oxidation And Inhibits Apoptotic Cell Death In Abcd1-deficient Glial Cells | Singh, Jaspreet; Khan, Mushfiquddin; Pujol Onofre, Aurora; Baarine, Mauhamad; Singh, Inderjit |
| 26-Apr-2020 | HNRNPH1 ‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome | Reichert, Sara Chadwick; Li, Rachel; Turner, Scott; Van Jaarsveld, Richard H.; Massink, Maarten P. G.; Van Den Boogaard, Marie José H.; Toro, Mireia del; Rodríguez Palmero, Agustí; Fourcade, Stéphane; Schlüter, Agatha; Planas Serra, Laura; Pujol Onofre, Aurora; Iascone, Maria; Maitz, Sylvia; Loong, Lucy; Stewart, Helen; Franco, Elisa De; Ellard, Sian; Frank, Julie; Lewandowski, Raymond |
| 5-Oct-2020 | Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome | García Cazorla, Àngels; Verdura, Edgard; Juliá Palacios, Natalia; Anderson, Eric N.; Goicoechea, Leire; Planas Serra, Laura; Tsogtbaatar, Enkhtuul; Dsouza, Nikita R.; Schlüter, Agatha; Urreizti, Roser; Tarnowski, Jessica M.; Gavrilova, Ralitza H.; SHMT Working Group; Ruiz, Montserrat; Rodríguez Palmero, Agustí; Fourcade, Stéphane; Cogné, Benjamin; Besnard, Thomas; Vincent, Marie; Bézieau, Stéphane; Folmes, Clifford D.; Zimmermann, Michael T.; Klee, Eric W.; Pandey, Udai Bhan; Artuch Iriberri, Rafael; Cousin, Margot A.; Pujol Onofre, Aurora |
| 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 |
| 8-May-2018 | Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice | Jorge Torres, Olga C.; Szczesna, Karolina; Roa, Laura; Casal, Carmen; Gonzalez Somermeyer, Louisa; Soler, Marta; Velasco, Cecilia D.; Martinez San Segundo, Pablo; Petazzi, Paolo; Sáez, Mauricio A.; Delgado Morales, Raul; Fourcade, Stéphane; Pujol Onofre, Aurora; Huertas, Dori; Llobet Berenguer, Artur, 1972-; Guil, Sonia; Esteller, Manel |
| Dec-2017 | Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance | Fourcade, Stéphane; Morató, Laia; Parameswaran, Janani; Ruiz, Montserrat; Ruiz-Cortés, Tatiana; Jove, Mariona; Naudi, Alba; Martínez Redondo, Paloma; Dierssen, Mara; Ferrer, Isidro (Ferrer Abizanda); Villarroya i Gombau, Francesc; Pamplona, Reinald; Vaquero García, Alejandro; Portero Otin, Manuel; Pujol Onofre, Aurora |
| 1-Jan-2019 | Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy | Pant, Devesh C.; Dorboz, Imen; Schlüter, Agatha; Fourcade, Stéphane; Launay, Nathalie; Joya, Javier; Aguilera Albesa, Sergio; Yoldi, Maria Eugenia; Casasnovas Pons, Carlos; Willis, Mary J.; Ruiz, Montserrat; Ville, Dorothée; Lesca, Gaetan; Siquier Pernet, Karine; Desguerre, Isabelle; Yan, Huifang; Wang, Jingmin; Burmeister, Margit; Brady, Lauren; Tarnopolsky, Mark; Cornet, Carles; Rubbini, Davide; Terriente, Javier; James, Kiely N.; Musaev, Damir; Zaki, Maha S.; Patterson, Marc C.; Lanpher, Brendan C.; Klee, Eric W.; Pinto e Vairo, Filippo; Wohler, Elizabeth; Sobreira, Nara Lygia de M.; Cohen, Julie S.; Maroofian, Reza; Galehdari, Hamid; Mazaheri, Neda; Shariati, Gholamrez; Colleaux, Laurence; Rodriguez, Diana; Gleeson, Joseph G.; Pujades, Cristina; Fatemi, Ali; Boespflug‐Tanguy, Odile; Pujol Onofre, Aurora |
| 1-Apr-2015 | Neuroinflammatory signals in alzheimer disease and app/psS1 transgenic mice: correlations with plaques, tangles, and oligomeric species | López González, Irene; Schlüter, Agatha; Aso Pérez, Ester; Garcia Esparcia, Paula; Ansoleaga, Belén; Llorens Torres, Franc; Carmona Murillo, Margarita; Moreno Castro, Jesús; Fuso, Andrea; Portero Otin, Manuel; Pamplona, Reinald; Pujol Onofre, Aurora; Ferrer, Isidro (Ferrer Abizanda) |
| 13-Apr-2021 | Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain | Troya, Jesús; Bastard, Paul; Planas Serra, Laura; Ryan, Pablo; Ruiz, Montserrat; Carranza, María de; Torres, Juan; Martínez, Amalia; Abel, Laurent; Casanova, Jean-Laurent; Pujol Onofre, Aurora |