Deregulation of purine metabolism in Alzheimer's disease von Ansoleaga, Belén, Jové, Mariona, Schlüter, Agatha, Garcia-Esparcia, Paula, Moreno, Jesús, Pujol, Aurora, Pamplona, Reinald, Portero-Otín, Manuel, Ferrer, Isidre

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Accelerated biological aging in COVID-19 patients von Cao, Xue, Li, Wenjuan, Wang, Ting, Ran, Dongzhi, Davalos, Veronica, Planas Serra, Laura, Pujol Onofre, Aurora, Esteller, Manel, Wang, Xiaolin, Yu, Huichuan

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Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy von Launay, Nathalie, Ruiz, Montserrat, Grau, Laia, Ortega, Francisco J., Ilieva, Ekaterina V., Martínez, Juan José, Galea, Elena, Ferrer, Isidre, Knecht, Erwin, Pujol, Aurora, Fourcade, Stéphane

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Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia von Verdura, Edgard, Fons, Carme, Schlüter, Agatha, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas Pons, Carlos, Castellano, Antonio, Pujol Onofre, Aurora

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Aberrant regulation of the GSK‐3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy von Ranea‐Robles, Pablo, Launay, Nathalie, Ruiz, Montserrat, Calingasan, Noel Ylagan, Dumont, Magali, Naudí, Alba, Portero‐Otín, Manuel, Pamplona, Reinald, Ferrer, Isidre, Beal, M Flint, Fourcade, Stéphane, Pujol, Aurora

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Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy von Launay, Nathalie, Aguado, Carmen, Fourcade, Stéphane, Ruiz, Montserrat, Grau, Laia, Riera, Jordi, Guilera, Cristina, Giròs, Marisa, Ferrer, Isidre, Knecht, Erwin, Pujol, Aurora

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SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency von Chan, Yi-Hao, Lundberg, Vanja, Le Pen, Jérémie, Yuan, Jiayi, Lee, Danyel, Pinci, Francesca, Volpi, Stefano, Nakajima, Koji, Bondet, Vincent, Åkesson, Sanna, Khobrekar, Noopur V, Bodansky, Aaron, Du, Likun, Melander, Tina, Mariaggi, Alice-Andrée, Seeleuthner, Yoann, Saleh, Tariq Shikh, Chakravarty, Debanjana, Marits, Per, Dobbs, Kerry, Vonlanthen, Sofie, Hennings, Viktoria, Thörn, Karolina, Rinchai, Darawan, Bizien, Lucy, Chaldebas, Matthieu, Sobh, Ali, Özçelik, Tayfun, Keles, Sevgi, AlKhater, Suzan A, Prando, Carolina, Meyts, Isabelle, Wilson, Michael R, Rosain, Jérémie, Jouanguy, Emmanuelle, Aubart, Mélodie, Abel, Laurent, Mogensen, Trine H, Pan-Hammarström, Qiang, Gao, Daxing, Duffy, Darragh, Cobat, Aurélie, Berg, Stefan, Notarangelo, Luigi D, Harschnitz, Oliver, Rice, Charles M, Studer, Lorenz, Casanova, Jean-Laurent, Ekwall, Olov, Zhang, Shen-Ying

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Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation von Schlüter, Agatha, Sandoval, Juan, Fourcade, Stéphane, Díaz Lagares, Angel, Ruiz, Montserrat, Casaccia, Patrizia, Esteller, Manel, Pujol Onofre, Aurora

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Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children von Lee, Danyel, Le Pen, Jérémie, Yatim, Ahmad, Dong, Beihua, Aquino, Yann, Ogishi, Masato, Pescarmona, Rémi, Talouarn, Estelle, Rinchai, Darawan, Zhang, Peng, Perret, Magali, 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, Dalgard, Clifford L, Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Boisson, Bertrand, Maniatis, Tom, Zhang, Qian, Bastard, Paul, Notarangelo, Luigi D, Béziat, Vivien, Pérez de Diego, Rebeca, Rodríguez Gallego, Carlos, Su, Helen C, Jouanguy, Emmanuelle, Cobat, Aurélie, Alsina Manrique de Lara, 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, Jordán García, Iolanda, Elmas Bozdemir, Sefika, Bayhan, Gulsum Iclal, Beaufils, Camille, 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, Flores, Carlos, Zhang, Yu, Arias, Andrés A, Bailey, Rasheed, Schlüter, Agatha, Milisavljevic, Baptiste, Bigio, Benedetta, Antón López, 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, Rozenberg, Flore

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Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy von 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, Isidre, Portero-Otin, Manuel, Pujol, Aurora

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Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome von 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

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Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs von Bastard, Paul, Rocamora Blanch, Gemma, Pujol Onofre, Aurora, Martínez Picado, Francisco Javier, Solanich, Xavier, Anderson, Mark S, Casanova, Jean Laurent, Derisi, Joseph L, Antolí, Arnau

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Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy von Launay, Nathalie, Ruiz, Montserrat, Grau, Laia, Ortega, Francisco Javier, Ilieva, Ekaterina V, Martínez, Juan José, Galea, Elena, Ferrer, Isidro (Ferrer Abizanda), Knecht, Erwin, Pujol Onofre, Aurora, Fourcade, Stéphane

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Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number von 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

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Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance von 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

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Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance von 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

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Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance von 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

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Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance von 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

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Cyclophilin D as a potential target for antioxidants in neurodegeneration: the X-ALD case von López Erauskin, Jone, Ferrer, Isidro (Ferrer Abizanda), Galea, Elena, Pujol Onofre, Aurora

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Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy von 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

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