Browsing by Author Casasnovas Pons, Carlos
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| Issue Date | Title | Author(s) |
|---|---|---|
| 1-Jan-2020 | A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases | Verdura, 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-2020 | A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy | Rodríguez 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-2019 | A novel mutation in the GFAP gene expands the phenotype of Alexander disease | Casasnovas Pons, Carlos; Verdura, Edgard; Vélez Santamaria, Valentina; Schlüter, Agatha; Pons Escoda, Albert; Homedes, Christian; Ruiz, Montserrat; Fourcade, Stéphane; Launay, Nathalie; Pujol Onofre, Aurora |
| 19-Aug-2021 | Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths | Bastard, 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; Jordán García, Iolanda |
| 1-Nov-2021 | Autoantibody screening in Guillain–Barré syndrome | Lleixà, Cinta; Martín Aguilar, Lorena; Pascual Goñi, Elba; Franco, Teresa; Caballero Milán, Marta; Luna, Noemí de; Gallardo, Eduard; Suárez Calvet, Xavier; Martínez Martínez, Laura; Diaz Manera, Jordi; Rojas García, Ricard; Cortés Vicente, Elena; Turón, Joana; Casasnovas Pons, Carlos; Homedes, Christian; Gutiérrez Gutiérrez, Gerardo; Jimeno Montero, María Concepción; Berciano, José; Sedano-tous, Maria José; García Sobrino, Tania; Pardo Fernández, Julio; Márquez Infante, Celedonio; Rojas Marcos, Iñigo; Jericó Pascual, Ivonne; Martínez Hernández, Eugenia; Morís de la Tassa, Germán; Domínguez González, Cristina; Juárez, Cándido; Illa Sendra, Isabel; Querol, Luis |
| 20-Aug-2021 | Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy | Verdura, Edgard; Rodríguez Palmero, Agustí; Vélez Santamaría, Valentina; Planas Serra, Laura; Calle, Irene de la; Raspall Chaure, Miquel; Roubertie, Agathe; Benkirane, Mehdi; Saettini, Francesco; Pavinato, Lisa; Mandrile, Giorgia; O’leary, Melanie; O’heir, Emily; Barredo, Estibaliz; Chacón, Almudena; Michaud, Vincent; Goizet, Cyril; Ruiz, Montserrat; Schlüter, Agatha; Rouvet, Isabelle; Sala Coromina, Júlia; Fossati, Chiara; Iascone, Maria; Canonico, Francesco; Marcé Grau, Anna; Souza, Precilla de; Adams, David; Casasnovas Pons, Carlos; Rehm, Heidi L.; Mefford, Heather C.; González Gutiérrez-Solana, Luis; Brusco, Alfredo; Koenig, Michel; Macaya, Alfons; Pujol, Aurora, 1968- |
| 1-Oct-2019 | Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study | Casasnovas Pons, Carlos; Ruiz, Montserrat; Schlüter, Agatha; Naudi, Alba; Fourcade, Stéphane; Veciana, Misericordia; Castañer, Sara; Albertí, Antonia; Bargalló Alabart, Núria; Johnson, Maria; Raymond, Gerald V.; Fatemi, Ali; Moser, Ann B.; Villarroya i Gombau, Francesc; Portero-Otin, Manuel; Artuch Iriberri, Rafael; Pamplona, Reinald; Pujol, Aurora, 1968- |
| 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 |
| Jun-2020 | Consistent improvement with eculizumab across muscle groups in myasthenia gravis | Mantegazza, Renato; O'Brien, Fanny L.; Yountz, Marcus; Howard, James F. Jr.; REGAIN Study Group; Casasnovas Pons, Carlos |
| Oct-2009 | Diagnosis of Charcot-Marie-Tooth disease | Banchs, Isabel; Casasnovas Pons, Carlos; Albertí, María A.; Jorge, Laura de; Povedano, Mònica; Montero, Jordi; Martínez Matos, Juan Antonio; Volpini Bertrán, Víctor |
| 10-Jan-2022 | Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization | Schlüter, Agatha; Rodríguez Palmero, Agustí; Verdura, Edgard; Vélez Santamaría, Valentina; Ruiz, Montserrat; Fourcade, Stéphane; Planas Serra, Laura; Martínez, Juan José; Guilera, Cristina; Girós, Marisa; Artuch Iriberri, Rafael; Yoldi, María Eugenia; O'Callaghan, Mar; García Cazorla, Àngels; Armstrong, Judith; Marti, Itxaso; Mondragón Rezola, Elisabet; Redin, Claire; Mandel, Jean Louis; Conejo, David; Sierra Córcoles, Concepción; Beltran, Sergi; Gut, Marta; Vázquez, Elida; Toro, Mireia del; Troncoso, Mónica; Pérez Jurado, Luis A.; Gutiérrez Solana, Luis G.; López de Munain, Adolfo; Casasnovas Pons, Carlos; Aguilera Albesa, Sergio; Macaya, Alfons; Pujol, Aurora, 1968-; GWMD working group |
| 27-Jul-2017 | Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain | Sivera, Rafael; Frasquet, Marina; Lupo, Vincenzo; García-Sobrino, Tania; Blanco-Arias, Patricia; Pardo, Julio; Fernández-Torrón, Roberto; López de Munain, Adolfo; Márquez Infante, Celedonio; Villarreal, Liliana; Carbonell, Pilar; Rojas-Garcia, Ricard; Segovia, Sonia; Illa Sendra, Isabel; Frongia, Anna Lia; Nascimento, Andrés; Ortez, Carlos Ignacio; García-Romero, Mar; Pascual-Pascua, Samuel Ignacio; Pelayo-Negro, Ana Lara; Berciano, José; Guerrero Sola, Antonio; Casasnovas Pons, Carlos; Camacho, Ana; Esteban, Jesús; Chumillas, María José; Barreiro, Marisa; Díaz, Carmen; Palau Martínez, Francesc; Vílchez, Juan Jesús; Espinós, Carmen; Sevilla, Teresa |
| 1-Jun-2020 | Eculizumab as a promising treatment in thymoma-associated myasthenia gravis | Vélez Santamaria, Valentina; Nedkova Hristova, Velina; Díez, Laura; Homedes, Christian; Alberti, Maria Antonia; Casasnovas Pons, Carlos |
| 2022 | Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study: differences in methods and reference values | Arends, Samuel; Drenthen, Judith; van den Bergh, Peter; Franssen, Hessel; Hadden, Robert D.M.; Islam, Badrul; Kuwabara, Satoshi; Reisin, Ricardo C.; Shahrizaila, Nortina; Amino, Hiroshi; Antonini, Giovanni; Attarian, Shahram; Balducci, Claudia; Barroso, Fabio; Bertorini, Tulio; Binda, Davide; Brannagan, Thomas H.; Buermann, Jan; Casasnovas Pons, Carlos; Cavaletti, Guido; Chao, Chi-Chao; Dimachkie, Mazen M.; Fulgenzi, Ernesto A.; Galassi, Giuliana; Gutiérrez Gutiérrez, Gerardo; Harbo, Thomas; Hartung, Hans-Peter; Hsieh, Sung-Tsang; Kiers, Lynette; Lehmann, Helmar C.; Manganelli, Fiore; Marfia, Girolama A.; Mataluni, Giorgia; Pardo, Julio; Péréon, Yann; Rajabally, Yusuf A.; Santoro, Lucio; Sekiguchi, Yukari; Stein, Beth; Stettner, Mark; Uncini, Antonio; Verboon, Christine; Verhamme, Camiel; Vytopil, Michal; Waheed, Waqar; Wang, Min; Zivkovic, Sasha; Jacobs, Bart C.; Cornblath, David R. |
| 13-Apr-2010 | Enfermedad de Charcot-Marie-Tooth: Estudio clínico y molecular de los genes GJB-1 y MFN2 en la población española. | Casasnovas Pons, Carlos |
| 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 Marsal, Francisco; Pujol Onofre, Aurora; Esteller, Manel |
| 2021 | Guillain-Barre syndrome after SARS-CoV-2 infection in an international prospective cohort study | Luijten, Linda W. G.; Leonhard, Sonja E.; Eijk, Annemiek A. van der; Doets, Alex Y.; Appeltshauser, Luise; Arends, Samuel; Attarian, Shahram; Benedetti, Luana; Briani, Chiara; Casasnovas Pons, Carlos; Castellani, Francesca; Dardiotis, Efthimios; Echaniz Laguna, Andoni; Garssen, Marcel P. J.; Harbo, Thomas; Huizinga, Ruth; Humm, Andrea M.; Jellema, Korné; Kooi, Anneke J. van der; Kuitwaard, Krista; Kuntzer, Thierry; Kusunoki, Susumu; Lascano, Agustina M.; Martinez Hernandez, Eugenia; Rinaldi, Simon; Samijn, Johnny P. A.; Scheidegger, Olivier; Tsouni, Pinelopi; Vicino, Alex; Visser, Leo H.; Walgaard, Christa; Wang, Yuzhong; Wirtz, Paul W.; Ripellino, Paolo; Jacobs, Bart C.; IGOS Consortium |
| 21-May-2016 | Guillain-Barré syndrome following the 2009 pandemic monovalent and seasonal trivalent influenza vaccination campaigns in Spain from 2009 to 2011: outcomes from active surveillance by a neurologist network, and records from a country-wide hospital discharge database | Alcalde Cabero, Enrique; Almazan Isla, Javier; García López, Fernando J.; Ara Callizo, José Ramón; Avellanal, Fuencisla; Casasnovas Pons, Carlos; Cemillán, Carlos; Cuadrado, José Ignacio; Duarte, Jacinto; Fernández Pérez, María Dolores; Fernández, Óscar; García Merino, Juan Antonio; García Montero, Rosa; Montero, Dolores; Pardo, Julio; Rodríguez Rivera, Francisco Javier; Ruiz Tovar, María; Pedro Cuesta, Jesús de; Spanish GBS Epidemiology Study Group |
| 9-Jan-2019 | Hippocampus and insula are targets in epileptic patients with glutamic acid decarboxylase antibodies | Falip, Mercè; Rodríguez Bel, Laura; Castañer, Sara; Sala Padró, Jacint; Miró, Júlia; Jaraba, Sónia; Casasnovas Pons, Carlos; Morandeira-Rego, Francisco; Berdejo, Javier; Carreño Martínez, Mar |
| 20-May-2024 | Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy | Launay, Nathalie; López Erauskin, Jone; Bianchi, Patrizia; Guha, Sanjib; Parameswaran, Janani; Coppa, Andrea; Torreni, Lorenzo; Schlüter, Agatha; Fourcade, Stéphane; Paredes Fuentes, Abraham José; Artuch, Rafael; Casasnovas Pons, Carlos; Ruiz Sales, Montserrat; Pujol, Aurora, 1968- |