Browsing by Author Pujol Onofre, Aurora
Showing results 17 to 36 of 46
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| Issue Date | Title | Author(s) |
|---|---|---|
| 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 |
| Oct-2011 | Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy | Galino, Jorge; Ruiz, Montserrat; Fourcade, Stéphane; Schlüter, Agatha; López Erauskin, Jone; Guilera, Cristina; Jove, Mariona; Naudi, Alba; García Arumí, Elena; Andreu, Antoni L.; Starkov, Anatoly A.; Pamplona, Reinald; Ferrer, Isidro (Ferrer Abizanda); Portero Otin, Manuel; Pujol Onofre, Aurora |
| 26-Dec-2017 | Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease | Ruiz, Montserrat; Bégou, Mélina; Launay, Nathalie; Ranea Robles, Pablo; Bianchi, Patrizia; López Erauskin, Jone; Morató, Laia; Guilera, Cristina; Petit, Bérengère; Vaurs‐Barriere, Catherine; Guéret‐Gonthier, Céline; Bonnet‐Dupeyron, Marie‐Noëlle; Fourcade, Stéphane; Auwerx, Johan; Boespflug‐Tanguy, Odile; Pujol Onofre, Aurora |
| Jul-2010 | Pathomechanisms Underlying X-Adrenoleukodystrophy: A Three-hit Hypothesis | Singh, Inderjit; Pujol Onofre, Aurora |
| 13-Mar-2014 | PDR-1/hParkin negatively regulates the phagocyosis of apoptotic cell corpses in Caenorhabditis elegans | Cabello, J.; Sämann, J.; Gómez Orte, E.; Erazo, T.; Coppa, Andrea; Pujol Onofre, Aurora; Büssing, I.; Schulze, B.; Lizcano, José Miguel; Baumeister, R.; Ferrer, Isidro (Ferrer Abizanda); Dalfó Capella, Esther |
| Jan-2010 | PeroxisomeDB 2.0: an integrative view of the global peroxisomal metabolome | Schlüter, Agatha; Real Chicharro, Alejandro; Gabaldón, Toni; Sánchez Jiménez, Francisca; Pujol Onofre, Aurora |
| 28-Nov-2006 | PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease | Schlüter, Agatha; Fourcade, Stéphane; Domènech Estévez, Enric; Gabaldón, Toni; Huerta Cepas, Jaime; Berthommier, Guillaume; Ripp, Raymond; Wanders, Ronald J. A.; Poch, Olivier; Pujol Onofre, Aurora |
| 22-Apr-2020 | Phenotypic correlations in a large single center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle MRI study | Fernández Eulate, Gorka; Fernández Torrón, Roberto; Guisasola, Amaia; Iglesias Gaspar, Maria Teresa; Diaz Manera, Jordi; Maneiro, Miren; Zulaica, Miren; Olasagasti, Vicente; Formica, Alejandro Francisco; Espinal, Juan Bautista; Ruiz, Montserrat; Schlüter, Agatha; Pujol Onofre, Aurora; Poza, Juan José; López de Munain, Adolfo |
| 1-Apr-2020 | POLR3A variants with striatal involvement and extrapyramidal movement disorder | Harting, Inga; Al-Saady, Murtadha; Krägeloh-Mann, Ingeborg; Bley, Annette; Hempel, Maja; Bierhals, Tatjana; Karch, Stephanie; Moog, Ute; Bernard, Geneviève; Huntsman, Richard; van Spaendonk, Rosalina M. L.; Vreeburg, Maaike; Rodríguez Palmero, Agustí; Pujol Onofre, Aurora; van der Knaap, Marjo S.; Pouwels, Petra J. W.; Wolf, Nicole I. |