Browsing by Author Pujol Onofre, Aurora

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Issue DateTitleAuthor(s)
1-Jan-2020A deep intronic splice variant advises reexamination of presumably dominant SPG7 CasesVerdura, 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
15-Aug-2020A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophyRodríguez Palmero, Agustí; Schlüter, Agatha; Verdura, Edgard; Ruiz, Montserrat; Martínez, Juan José; Gourlaouen, Isabelle; Ka, Chandran; Lobato, Ricardo; Casasnovas Pons, Carlos; Gac, Gérald Le; Fourcade, Stéphane; Pujol Onofre, Aurora
19-Apr-2019A novel mutation in the GFAP gene expands the phenotype of Alexander diseaseCasasnovas Pons, Carlos; Verdura, Edgard; Vélez Santamaria, Valentina; Schlüter, Agatha; Pons Escoda, Albert; Homedes, Christian; Ruiz, Montserrat; Fourcade, Stéphane; Launay, Nathalie; Pujol Onofre, Aurora
1-Jul-2016A view on clinical genetics and genomics in Spain: of challenges and opportunitiesPàmpols i Ros, Teresa; Ramos, Feliciano J.; Lapunzina, Pablo; Gozalo Salellas, Ignasi; Pérez Jurado, Luis; Pujol Onofre, Aurora
1-Aug-2018Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophyRanea Robles, Pablo; Launay, Nathalie; Ruiz, Montserrat; Calingasan, Noel Ylagan; Dumont, Magali; Naudi, Alba; Portero Otin, Manuel; Pamplona, Reinald; Ferrer, Isidro (Ferrer Abizanda); Beal, M. Flint; Fourcade, Stéphane; Pujol Onofre, Aurora
19-Apr-2022Accelerated biological aging in COVID-19 patientsCao, Xue; Li, Wenjuan; Wang, Ting; Ran, Dongzhi; Davalos, Veronica; Planas Serra, Laura; Pujol Onofre, Aurora; Esteller, Manel; Wang, Xiaolin; Yu, Huichuan
19-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; Danish Blood Donor Study; Danish CHGE; Rigo Bonnin, Raúl; HGID Lab University of Hong Kong; Amsterdam UMC Covid-19 Biobank Investigators; St. James’s Hospital SARS CoV2 Interest group; Planas Obradors, Anna M.; CONSTANCES Cohort; COVID Human Genetic Effort; Solanich, Xavier; 3C-Dijon Study; Milieu Intérieur Consortium; Cerba HealthCare; Morandeira-Rego, Francisco; Etablissement du Sang study group; NIAID Immune Response To Covid Group; COVID-STORM Clinicians University of Hong Kong; NH-COVAIR Study Group; Pujol Onofre, Aurora; French COVID Cohort Study Group; CoV-Contact Cohort; Imagine COVID Group; Casasnovas Pons, Carlos; Jordan Garcia, Iolanda
1-Mar-2015Autophagy induction halts axonal degeneration in a mouse model of x-adrenoleukodystrophyLaunay, Nathalie; Aguado, Carmen; Fourcade, Stéphane; Ruiz, Montserrat; Grau, Laia; Riera, Jordi; Guilera, Cristina; Giròs, Marisa; Ferrer, Isidro (Ferrer Abizanda); Knecht, Erwin; Pujol Onofre, Aurora
6-Aug-2020Case Report: Benign Infantile Seizures Temporally Associated With COVID-19García 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-2019Clinical 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 Ignacio; García Cazorla, Angels; 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
2020Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesiaVerdura, Edgard; Fons, Carme; Schlüter, Agatha; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas Pons, Carlos; Castellano, Antonio; Pujol Onofre, Aurora
Jul-2010Current and Future Pharmacological Treatment Strategies in X-linked AdrenoleukodystrophyBerger, Johannes; Pujol Onofre, Aurora; Aubourg, Patrick; Forss-Petter, Sonja
1-May-2013Cyclophilin D as a potential target for antioxidants in neurodegeneration: the X-ALD caseLópez Erauskin, Jone; Ferrer, Isidro (Ferrer Abizanda); Galea, Elena; Pujol Onofre, Aurora
1-Jan-2015Deregulation of purine metabolism in Alzheimer's diseaseAnsoleaga, 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-2018Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar AtaxiaGuissart, 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-2021Epigenome-wide association study of COVID-19 severity with respiratory failureCastro 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 P.; 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-2018Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiationSchlüter, Agatha; Sandoval, Juan; Fourcade, Stéphane; Díaz Lagares, Angel; Ruiz, Montserrat; Casaccia, Patrizia; Esteller, Manel; Pujol Onofre, Aurora
1-Apr-2018Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 DiabetesRotroff, 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-2013Histone Deacetylase Inhibitor Upregulates Peroxisomal Fatty Acid Oxidation And Inhibits Apoptotic Cell Death In Abcd1-deficient Glial CellsSingh, Jaspreet; Khan, Mushfiquddin; Pujol Onofre, Aurora; Baarine, Mauhamad; Singh, Inderjit
26-Apr-2020HNRNPH1 ‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndromeReichert, 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