Not logged in.png)
Share.png)
SaveShare Save Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia
Launay, Nathalie; Espinosa-Alcantud, Maria; Verdura, Edgard; Fernandez-Eulate, Gorka; Ondaro, Jon; Iruzubieta, Pablo; Marsal, Maria; Schluter, Agatha; Ruiz, Montserrat; Fourcade, Stephane; Rodriguez-Palmero, Agusti; Zulaica, Miren; Sistiaga, Andone; Labayru, Garazi; Loza-Alvarez, Pablo; Vaquero, Alejandro; de Munain, Adolfo Lopez; Pujol, Aurora Share Save Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related SyndromeAlbajar, Ines; Iruzubieta, Pablo; Barandiaran, Myriam; Alves, Patricia; Pujol, Aurora; Verdura, Edgard; Equiza, Jon; Urreta, Iratxe; Ruiz-Martinez, Javier; Maneiro, Miren; Fernandez-Torron, Roberto; Poza, Juan Jose; Mondragon, Elisabet; de Munain, Adolfo Lopez Share Save Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegiaQuiroz, Vicente; Planas-Serra, Laura; Sveden, Abigail; Tam, Amy; Kim, Hyo-Min; Zubair, Umar; Resch, Dario; Saffari, Afshin; Danzi, Matt C.; Zuchner, Stephan; Chopra, Maya; Schierbaum, Luca; Pujol, Aurora; Eklund, Erik A.; Ebrahimi-Fakhari, Darius Share Save Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophyLaunay, Nathalie; Lopez-Erauskin, Jone; Bianchi, Patrizia; Guha, Sanjib; Parameswaran, Janani; Coppa, Andrea; Torreni, Lorenzo; Schluter, Agatha; Fourcade, Stephane; Paredes-Fuentes, Abraham J.; Artuch, Rafael; Casasnovas, Carlos; Ruiz, Montserrat; Pujol, Aurora Share Save Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNsBastard, Paul; Vazquez, Sara; Liu, Jamin; Laurie, Matthew T.; Wang, Chung Yu; Gervais, Adrian; Le Voyer, Tom; Bizien, Lucy; Zamecnik, Colin; Philippot, Quentin; Rosain, Jeremie; Catherinot, Emilie; Willmore, Andrew; Mitchell, Anthea M.; Bair, Rebecca; Garcon, Pierre; Kenney, Heather; Fekkar, Arnaud; Salagianni, Maria; Poulakou, Garyphallia; Siouti, Eleni; Sahanic, Sabina; Tancevski, Ivan; Weiss, Gunter; Nagl, Laurenz; Manry, Jeremy; Duvlis, Sotirija; Arroyo-Sanchez, Daniel; Paz Artal, Estela; Rubio, Luis; Perani, Cristiano; Bezzi, Michela; Sottini, Alessandra; Quaresima, Virginia; Roussel, Lucie; Vinh, Donald C.; Felipe Reyes, Luis; Garzaro, Margaux; Hatipoglu, Nevin; Boutboul, David; Tandjaoui-Lambiotte, Yacine; Borghesi, Alessandro; Aliberti, Anna; Cassaniti, Irene; Venet, Fabienne; Monneret, Guillaume; Halwani, Rabih; Sharif-Askari, Narjes Saheb; Danielson, Jeffrey; Burrel, Sonia; Morbieu, Caroline; Stepanovskyy, Yurii; Bondarenko, Anastasia; Volokha, Alla; Boyarchuk, Oksana; Gagro, Alenka; Neuville, Mathilde; Neven, Benedicte; Keles, Sevgi; Hernu, Romain; Bal, Antonin; Novelli, Antonio; Novelli, Giuseppe; Saker, Kahina; Ailioaie, Oana; Antoli, Arnau; Jeziorski, Eric; Rocamora-Blanch, Gemma; Teixeira, Carla; Delaunay, Clarisse; Lhuillier, Marine; Le Turnier, Paul; Zhang, Yu; Mahevas, Matthieu; Pan-Hammarstrom, Qiang; Abolhassani, Hassan; Bompoil, Thierry; Dorgham, Karim; Group, French Covid Study; Gorochov, Guy; Laouenan, Cedric; Rodriguez-Gallego, Carlos; Ng, Lisa F. P.; Renia, Laurent; Pujol, Aurora; Belot, Alexandre; Raffi, Francois; Allende, Luis M.; Martinez-Picado, Javier; Ozcelik, Tayfun; Keles, Sevgi; Imberti, Luisa; Notarangelo, Luigi D.; Troya, Jesus; Solanich, Xavier; Zhang, Shen-Ying; Puel, Anne; Wilson, Michael R.; Trouillet-Assants, Sophie; Abe, Laurent; Jouanguy, Emmanuelle; Ye, Chun Jimmie; Cobat, Aurelie; Thompson, Leslie M.; Andreakos, Evangelos; Zhang, Qian; Anderson, Mark S.; Casanova, Jean-Laurent; DeRisi, Joseph L. Share Save Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophyWeinhofer, Isabelle; Rommer, Paulus; Gleiss, Andreas; Ponleitner, Markus; Zierfuss, Bettina; Waidhofer-Soellner, Petra; Fourcade, Stephane; Grabmeier-Pfisterhammer, Katharina; Reinert, Marie-Christine; Goepfert, Jens; Heine, Anne; Yska, Hemmo A. F.; Casasnovas, Carlos; Cantarin, Veronica; Bergner, Caroline G.; Mallack, Eric; Forss-Petter, Sonja; Aubourg, Patrick; Bley, Annette; Engelen, Marc; Eichler, Florian; Lund, Troy C.; Pujol, Aurora; Koehler, Wolfgang; Kuehl, Joern-Sven; Berger, Johannes Share Save RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegiaLaunay, Nathalie; Ruiz, Montserrat; Planas-Serra, Laura; Verdura, Edgard; Rodriguez-Palmero, Agusti; Schluter, Agatha; Goicoechea, Leire; Guilera, Cristina; Casas, Josefina; Campelo, Felix; Jouanguy, Emmanuelle; Casanova, Jean-Laurent; Boespflug-Tanguy, Odile; Cancela, Maria Vazquez; Gutierrez-Solana, Luis Gonzalez; Casasnovas, Carlos; Area-Gomez, Estela; Pujol, Aurora Share Save Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclatureMohan, Shruthi; Mayers, Megan; Weaver, Meredith; Baudet, Heather; De Biase, Irene; Goldstein, Jennifer; Mao, Rong; McGlaughon, Jennifer; Moser, Ann; Pujol, Aurora; Suchy, Sharon; Yuzyuk, Tatiana; Braverman, Nancy E. Share Save Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrityPlanas-Serra, Laura; Launay, Nathalie; Goicoechea, Leire; Heron, Benedicte; Jou, Cristina; Julia-Palacios, Natalia; Ruiz, Montserrat; Fourcade, Stephane; Casasnovas, Carlos; De La Torre, Carolina; Gelot, Antoinette; Marsal, Maria; Loza-Alvarez, Pablo; Garcia-Cazorla, Angels; Fatemi, Ali; Ferrer, Isidre; Portero-Otin, Manel; Area-Gomez, Estela; Pujol, Aurora Share Save Towards a substrate reduction therapy for metachromatic leukodystrophyPujol, Aurora; Jensen, Elizabeth; Dwyer, Jacquelyn; Fezoui, Malika; Gao, Grace; Keefe, Kelly; Brezzani, Alexander; Olszewski, Maureen; Lim, Sungtaek; He, Yan; Kabiri, Mostafa; Park, Hyejung; Wang, Bing; Dodge, James; Yew, Nelson S. -S.; Sardi, Pablo Share Save Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccinationSokal, Aurelien; Bastard, Paul; Chappert, Pascal; Barba-Spaeth, Giovanna; Fourati, Slim; Vanderberghe, Alexis; Lagouge-Roussey, Pauline; Meyts, Isabelle; Gervais, Adrian; Bouvier-Alias, Magali; Azzaoui, Imane; Fernandez, Ignacio; de la Selle, Andrea; Zhang, Qian; Bizien, Lucy; Pellier, Isabelle; Linglart, Agnes; Rothenbuhler, Anya; Marcoux, Estelle; Anxionnat, Raphael; Cheikh, Nathalie; Leger, Juliane; Amador-Borrero, Blanca; Fouyssac, Fanny; Menut, Vanessa; Goffard, Jean-Christophe; Storey, Caroline; Demily, Caroline; Mallebranche, Coralie; Troya, Jesus; Pujol, Aurora; Zins, Marie; Tiberghien, Pierre; Gray, Paul E.; McNaughton, Peter; Sullivan, Anna; Peake, Jane; Levy, Romain; Languille, Laetitia; Rodiguez-Gallego, Carlos; Boisson, Bertrand; Gallien, Sebastien; Neven, Benedicte; Michel, Marc; Godeau, Bertrand; Abel, Laurent; Rey, Felix A.; Weill, Jean-Claude; Reynaud, Claude-Agnes; Tangye, Stuart G.; Casanova, Jean-Laurent; Mahevas, Matthieu Share Save Epigenetic activation of antiviral sensors and effectors of interferon response pathways during SARS-CoV-2 infectionBinkowski, Jan; Taryma-Lesniak, Olga; Luczkowska, Karolina; Niedzwiedz, Anna; Lechowicz, Kacper; Strapagiel, Dominik; Jarczak, Justyna; Davalos, Veronica; Pujol, Aurora; Esteller, Manel; Kotfis, Katarzyna; Machalinski, Boguslaw; Parczewski, Milosz; Wojdacz, Tomasz K. Share Save Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescenceVerdura, Edgard; Senger, Bruno; Raspall-Chaure, Miquel; Schluter, Agatha; Launay, Nathalie; Ruiz, Montserrat; Casasnovas, Carlos; Rodriguez-Palmero, Agusti; Macaya, Alfons; Dominique Becker, Hubert; Pujol, Aurora Share Save Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective studyDavalos, Veronica; Garcia-Prieto, Carlos A.; Ferrer, Gerardo; Aguilera-Albesa, Sergio; Valencia-Ramos, Juan; Rodriguez-Palmero, Agusti; Ruiz, Montserrat; Planas-Serra, Laura; Jordan, Iolanda; Alegria, Iosune; Flores-Perez, Patricia; Cantarin, Veronica; Fumado, Victoria; Viadero, Maria Teresa; Rodrigo, Carlos; Mendez-Hernandez, Maria; Lopez-Granados, Eduardo; Colobran, Roger; Riviere, Jacques G.; Soler-Palacin, Pere; Pujol, Aurora; Esteller, Manel Share Save Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophyParameswaran, Janani; Goicoechea, Leire; Planas-Serra, Laura; Pastor, Antoni; Ruiz, Montserrat; Calingasan, Noel Y.; Guilera, Cristina; Aso, Ester; Boada, Jordi; Pamplona, Reinald; Portero-Otin, Manuel; de la Torre, Rafael; Ferrer, Isidre; Casasnovas, Carlos; Pujol, Aurora; Fourcade, Stephane Share Save Novel genes and sex differences in COVID-19 severityCruz, Raquel; Diz-de Almeida, Silvia; Lopez de Heredia, Miguel; Quintela, Ines; Ceballos, Francisco C.; Lorenzo-Salazar, Guillermo M.; Gonzalez-Montelongo, Rafaela; Gago-Dominguez, Manuela; Sevilla Porras, Marta; Tenorio Castano, Jair Antonio; Nevado, Julian; Maria Aguado, Jose; Aguilar, Carlos; Aguilera-Albesa, Sergio; Almadana, Virginia; Almoguera, Berta; Alvarez, Nuria; Andreu-Bernabeu, Alvaro; Arana-Arri, Eunate; Arango, Celso; Arranz, Maria J.; Artiga, Maria-Jesus; Baptista-Rosas, Raul C.; Barreda-Sanchez, Maria; Belhassen-Garcia, Moncef; Bezerra, Joao F.; Bezerra, Marcos A. C.; Boix-Palop, Lucia; Brion, Maria; Brugada, Ramon; Bustos, Matilde; Calderon, Enrique J.; Carbonell, Cristina; Castano, Luis; Castelao, Jose E.; Conde-Vicente, Rosa; Cordero-Lorenzana, M. Lourdes; Cortes-Sanchez, Jose L.; Corton, Marta; Darnaude, M. Teresa; De Martino-Rodriguez, Alba; del Campo-Perez, Victor; Diaz de Bustamante, Aranzazu; Dominguez-Garrido, Elena; Luchessi, Andre D.; Eiros, Rocio; Estigarribia Sanabria, Gladys Mercedes; Carmen Farinas, Maria; Fernandez-Robelo, Uxia; Fernandez-Rodriguez, Amanda; Fernandez-Villa, Tania; Gil-Fournier, Belen; Gomez-Arrue, Javier; Gonzalez Alvarez, Beatriz; Gonzalez Bernaldo de Quiros, Fernan; Gonzalez-Penas, Javier; Gutierrez-Bautista, Juan F.; Jose Herrero, Maria; Herrero-Gonzalez, Antonio; Jimenez-Sousa, Maria A.; Claudia Lattig, Maria; Liger Borja, Anabel; Lopez-Rodriguez, Rosario; Mancebo, Esther; Martin-Lopez, Caridad; Martin, Vicente; Martinez-Nieto, Oscar; Martinez-Lopez, Iciar; Martinez-Resendez, Michel F.; Martinez-Perez, Angel; Mazzeu, Juliana F.; Merayo Macias, Eleuterio; Minguez, Pablo; Moreno Cuerda, Victor; Silbiger, Vivian N.; Oliveira, Silviene F.; Ortega-Paino, Eva; Parellada, Mara; Paz-Artal, Estela; Santos, Ney P. C.; Perez-Matute, Patricia; Perez, Patricia; Perez-Tomas, M. Elena; Perucho, Teresa; Pinsach-Abuin, Mel Lina; Pompa-Mera, Ericka N.; Porras-Hurtado, Gloria L.; Pujol, Aurora; Ramiro Leon, Soraya; Resino, Salvador; Fernandes, Marianne R.; Rodriguez-Ruiz, Emilio; Rodriguez-Artalejo, Fernando; Rodriguez-Garcia, Jose A.; Ruiz Cabello, Francisco; Ruiz-Hornillos, Javier; Ryan, Pablo; Soria, Jose Manuel; Souto, Juan Carlos; Tamayo, Eduardo; Tamayo-Velasco, Alvaro; Carlos Taracido-Fernandez, Juan; Teper, Alejandro; Torres-Tobar, Lilian; Urioste, Miguel; Valencia-Ramos, Juan; Yanez, Zuleima; Zarate, Ruth; Nakanishi, Tomoko; Pigazzini, Sara; Degenhardt, Frauke; Butler-Laporte, Guillaume; Maya-Miles, Douglas; Bujanda, Luis; Bouysran, Youssef; Palom, Adriana; Ellinghaus, David; Martinez-Bueno, Manuel; Rolker, Selina; Amitrano, Sara; Roade, Luisa; Fava, Francesca; Spinner, Christoph D.; Prati, Daniele; Bernardo, David; Garcia, Federico; Darcis, Gilles; Fernandez-Cadenas, Israel; Holter, Jan Cato; Banales, Jesus M.; Frithiof, Robert; Duga, Stefano; Asselta, Rosanna; Pereira, Alexandre C.; Romero-Gomez, Manuel; Nafria-Jimenez, Beatriz; Hov, Johannes R.; Migeotte, Isabelle; Renieri, Alessandra; Planas, Anna M.; Ludwig, Kerstin U.; Buti, Maria; Rahmouni, Souad; Alarcon-Riquelme, Marta E.; Schulte, Eva C.; Franke, Andre; Karlsen, Tom H.; Valenti, Luca; Zeberg, Hugo; Richards, Brent; Ganna, Andrea; Boada, Merce; de Rojas, Itziar; Ruiz, Agustin; Sanchez-Juan, Pascual; Miguel Real, Luis; Guillen-Navarro, Encarna; Ayuso, Carmen; Gonzalez-Neira, Anna; Riancho, Jose A.; Rojas-Martinez, Augusto; Flores, Carlos; Lapunzina, Pablo; Carracedo, Angel Share Save The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodiesManry, Jeremy; Bastard, Paul; Gervais, Adrian; Le Voyer, Tom; Rosain, Jeremie; Philippot, Quentin; Michailidis, Eleftherios; Hoffmann, Hans-Heinrich; Eto, Shohei; Garcia-Prat, Marina; Bizien, Lucy; Parra-Martinez, Alba; Yang, Rui; Haljasmagi, Liis; Migaud, Melanie; Sarekannu, Karita; Maslovskaja, Julia; de Prost, Nicolas; Tandjaoui-Lambiotte, Yacine; Luyt, Charles-Edouard; Amador-Borrero, Blanca; Gaudet, Alexandre; Poissy, Julien; Morel, Pascal; Richard, Pascale; Cognasse, Fabrice; Troya, Jesus; Trouillet-Assant, Sophie; Belot, Alexandre; Saker, Kahina; Garcon, Pierre; Riviere, Jacques G.; Lagier, Jean-Christophe; Gentile, Stephanie; Rosen, Lindsey B.; Shaw, Elana; Morio, Tomohiro; Tanaka, Junko; Dalmau, David; Tharaux, Pierre-Louis; Sene, Damien; Stepanian, Alain; Megarbane, Bruno; Triantafyllia, Vasiliki; Fekkar, Arnaud; Heath, James R.; Franco, Jose Luis; Anaya, Juan-Manuel; Sole-Violan, Jordi; Imberti, Luisa; Biondi, Andrea; Bonfanti, Paolo; Castagnoli, Riccardo; Delmonte, Ottavia M.; Zhang, Yu; Snow, Andrew L.; Holland, Steven M.; Biggs, Catherine M.; Moncada-Velez, Marcela; Arias, Andres Augusto; Lorenzo, Lazaro; Boucherit, Soraya; Anglicheau, Dany; Planas, Anna M.; Haerynck, Filomeen; Duvlis, Sotirija; Ozcelik, Tayfun; Keles, Sevgi; Bousfiha, Ahmed A.; El Bakkouri, Jalila; Ramirez-Santana, Carolina; Paul, Stephane; Pan-Hammarstrom, Qiang; Hammarstrom, Lennart; Dupont, Annabelle; Kurolap, Alina; Metz, Christine N.; Aiuti, Alessandro; Casari, Giorgio; Lampasona, Vito; Ciceri, Fabio; Barreiros, Lucila A.; Dominguez-Garrido, Elena; Vidigal, Mateus; Zatz, Mayana; van de Beek, Diederik; Sahanic, Sabina; Tancevski, Ivan; Stepanovskyy, Yurii; Boyarchuk, Oksana; Nukui, Yoko; Tsumura, Miyuki; Vidaur, Loreto; Tangye, Stuart G.; Burrel, Sonia; Duffy, Darragh; Quintana-Murci, Lluis; Klocperk, Adam; Kann, Nelli Y.; Shcherbina, Anna; Lau, Yu-Lung; Leung, Daniel; Coulongeat, Matthieu; Marlet, Julien; Koning, Rutger; Reyes, Luis Felipe; Chauvineau-Grenier, Angelique; Venet, Fabienne; Monneret, Guillaume; Nussenzweig, Michel C.; Arrestier, Romain; Boudhabhay, Idris; Baris-Feldman, Hagit; Hagin, David; Wauters, Joost; Meyts, Isabelle; Dyer, Adam H.; Kennelly, Sean; Bourkeh, Nollaig M.; Halwan, Rabih; Sharif-Askar, Fatemeh Saheb; Dorgham, Karim; Sallette, Jerome; Sedkaoui, Souad Mehlal; AlKhater, Suzan; Rigo-Bonnin, Raul; Morandeira, Francisco; Roussel, Lucie; Vinh, Donald C.; Erikstrup, Christian; Condino-Neto, Antonio; Prando, Carolina; Bondarenko, Anastasiia; Spaan, Andras N.; Gilardin, Laurent; Fellay, Jacques; Lyonnet, Stanislas; Bilguvar, Kaya; Lifton, Richard P.; Mane, Shrikant; Anderson, Mark S.; Boisson, Bertrand; Beziat, Vivien; Zhang, Shen-Ying; Andreakos, Evangelos; Hermine, Olivier; Pujol, Aurora; Peterson, Part; Mogensen, Trine H.; Rowen, Lee; Mond, James; Debette, Stephanie; de Lamballerie, Xavier; Burdet, Charles; Bouadma, Lila; Zins, Marie; Soler-Palacin, Pere; Colobran, Roger; Gorochov, Guy; Solanich, Xavier; Susen, Sophie; Martinez-Picado, Javier; Raoult, Didier; Vasse, Marc; Gregersen, Peter K.; Piemonti, Lorenzo; Rodriguez-Gallego, Carlos; D Notarangelo, Luigi; Su, Helen C.; Kisand, Kai; Okada, Satoshi; Puel, Anne; Jouanguy, Emmanuelle; Rice, Charles M.; Tiberghien, Pierre; Zhang, Qian; Casanova, Jean-Laurent; Abel, Laurent; Cobat, Aurelie Share Save Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare DiseasesBullich, Gemma; Matalonga, Leslie; Pujadas, Montserrat; Papakonstantinou, Anastasios; Piscia, Davide; Artuch, Rafael; Gallano, Pia; Garrabou, Gloria; Gonzalez, Juan R.; Grinberg, Daniel; Guitart, Miriam; Laurie, Steven; Lazaro, Conxi; Luengo, Cristina; Marti, Ramon; Mila, Montserrat; Ovelleiro, David; Parra, Genis; Pujol, Aurora; Tizzano, Eduardo; Macaya, Alfons; Palau, Francesc; Ribes, Antonia; Perez-Jurado, Luis A.; Beltran, Sergi Share Save 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
