Browsing by Author Casasnovas Pons, Carlos
Showing results 8 to 27 of 33
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Issue Date | Title | Author(s) |
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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- |
11-Aug-2020 | Intravenous immunoglobulins may prevent prednisone-exacerbation in myasthenia gravis | Díez Porras, Laura; Homedes, Christian; Alberti, Maria Antonia; Vélez Santamaria, Valentina; Casasnovas Pons, Carlos |
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, María 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 |
4-Nov-2020 | Myasthenia gravis exacerbation after melatonin administration: case series from a tertiary referral centre | Nedkova Hristova, Velina; Vélez Santamaria, Valentina; Casasnovas Pons, Carlos |
19-Dec-2017 | Observational study of patients in Spain with amyotrophic lateral sclerosis: correlations between clinical status, quality of life, and dignity | Martínez Campo, Yolanda; Homedes, Christian; Lazaro, Ana; Alarcón, Raquel; Campo, David; Riera, Mariona; Domínguez, Raúl; Povedano, Mònica; Casasnovas Pons, Carlos |
2-Jun-2017 | Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients | Soldevilla, Beatriz; Cuevas-Martín, Carmen; Ibáñez, Clara; Santacatterina, Fulvio; Albertí, María A.; Simó, Carolina; Casasnovas Pons, Carlos; Márquez Infante, Celedonio; Sevilla, Teresa; Pascual-Pascua, Samuel Ignacio; Sánchez Aragó, María; Espinos, Carmen; Palau Martínez, Francesc; Cuezva, José M. |
14-Apr-2022 | Quality of Life in Myasthenia Gravis and Correlation of MG-QOL15 with Other Functional Scales | Díez Porras, Laura; Homedes, Christian; Alberti, Maria Antonia; Vélez Santamaria; Casasnovas Pons, Carlos |
26-Apr-2011 | Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT | Cassereau, Julien; Casasnovas Pons, Carlos; Gueguen, Naïg; Malinge, Marie Claire; Guillet, Virginie; Reynier, Pascal; Bonneau, Dominique; Amati-Bonneau, Patrizia; Banchs, Isabel; Volpini Bertrán, Víctor; Procaccio, Vincent; Chevrollier, Arnaud |