Myasthenia gravis exacerbation after melatonin administration: case series from a tertiary referral centre

由 Nedkova-Hristova, Velina, Vélez-Santamaría, Valentina, Casasnovas, Carlos
發表在 BMC Neurol (2020)

Intravenous immunoglobulins may prevent prednisone-exacerbation in myasthenia gravis

由 Díez-Porras, Laura, Homedes, Christian, Alberti, Maria Antonia, Vélez-Santamaría, Valentina, Casasnovas, Carlos
發表在 Sci Rep (2020)

Eculizumab as a promising treatment in thymoma-associated myasthenia gravis

由 Vélez-Santamaría, Valentina, Nedkova, Velina, Díez, Laura, Homedes, Christian, Alberti, M. Antonia, Casasnovas, Carlos
發表在 Ther Adv Neurol Disord (2020)

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia

由 Verdura, Edgard, Fons, Carme, Schlüter, Agatha, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas, Carlos, Castellano, Antonio, Pujol, Aurora
發表在 J Med Genet (2020)

Diagnosis of Charcot-Marie-Tooth Disease

由 Banchs, Isabel, Casasnovas, Carlos, Albertí, Antonia, De Jorge, Laura, Povedano, Mónica, Montero, Jordi, Martínez-Matos, Juan Antonio, Volpini, Victor
出版 2009

Observational study of patients in Spain with amyotrophic lateral sclerosis: correlations between clinical status, quality of life, and dignity

由 Martínez-Campo, Yolanda, Homedes, Christian, Lazaro, Ana, Alarcón, Raquel, Campo, David, Riera, Mariona, Domínguez, Raúl, Povedano, Mónica, Casasnovas, Carlos
發表在 BMC Palliat Care (2017)

Hippocampus and Insula Are Targets in Epileptic Patients With Glutamic Acid Decarboxylase Antibodies

由 Falip, Mercè, Rodriguez-Bel, Laura, Castañer, Sara, Sala-Padró, Jacint, Miro, Júlia, Jaraba, Sónia, Casasnovas, Carlos, Morandeira, Francisco, Berdejo, Javier, Carreño, Mar
發表在 Front Neurol (2019)

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

由 Verdura, Edgard, Schlüter, Agatha, Fernández‐Eulate, Gorka, Ramos‐Martín, Raquel, Zulaica, Miren, Planas‐Serra, Laura, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas, Carlos, López de Munain, Adolfo, Pujol, Aurora
發表在 Ann Clin Transl Neurol (2019)

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

由 Rodríguez‐Palmero, Agustí, Schlüter, Agatha, Verdura, Edgard, Ruiz, Montserrat, Martínez, Juan José, Gourlaouen, Isabelle, Ka, Chandran, Lobato, Ricardo, Casasnovas, Carlos, Le Gac, Gérald, Fourcade, Stéphane, Pujol, Aurora
發表在 Ann Clin Transl Neurol (2020)

Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients

由 Soldevilla, Beatriz, Cuevas-Martín, Carmen, Ibáñez, Clara, Santacatterina, Fulvio, Alberti, María A., Simó, Carolina, Casasnovas, Carlos, Márquez-Infante, Celedonio, Sevilla, Teresa, Pascual, Samuel I., Sánchez-Aragó, María, Espinos, Carmen, Palau, Francesc, Cuezva, José M.
發表在 PLoS One (2017)

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study

由 Casasnovas, Carlos, Ruiz, Montserrat, Schlüter, Agatha, Naudí, Alba, Fourcade, Stéphane, Veciana, Misericordia, Castañer, Sara, Albertí, Antonia, Bargalló, Nuria, Johnson, Maria, Raymond, Gerald V., Fatemi, Ali, Moser, Ann B., Villarroya, Francesc, Portero-Otín, Manuel, Artuch, Rafael, Pamplona, Reinald, Pujol, Aurora
發表在 Neurotherapeutics (2019)

The impact of rituximab infusion protocol on the long‐term outcome in anti‐MuSK myasthenia gravis

由 Cortés‐Vicente, Elena, Rojas‐Garcia, Ricard, Díaz‐Manera, Jordi, Querol, Luis, Casasnovas, Carlos, Guerrero‐Sola, Antonio, Muñoz‐Blanco, José Luis, Bárcena‐Llona, José Eulalio, Márquez‐Infante, Celedonio, Pardo, Julio, Martínez‐Fernández, Eva María, Usón, Mercedes, Oliva‐Nacarino, Pedro, Sevilla, Teresa, Illa, Isabel
發表在 Ann Clin Transl Neurol (2018)

Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy

由 Abbott, Jamie A., Meyer-Schuman, Rebecca, Lupo, Vincenzo, Feely, Shawna, Mademan, Inès, Oprescu, Stephanie N., Griffin, Laurie B., Alberti, M. Antonia, Casasnovas, Carlos, Aharoni, Sharon, Basel-Vanagaite, Lina, Züchner, Stephan, De Jonghe, Peter, Baets, Jonathan, Shy, Michael E., Espinós, Carmen, Demeler, Borries, Antonellis, Anthony, Francklyn, Christopher
發表在 Hum Mutat (2017)

Long‐term safety and efficacy of eculizumab in generalized myasthenia gravis

由 Muppidi, Srikanth, Utsugisawa, Kimiaki, Benatar, Michael, Murai, Hiroyuki, Barohn, Richard J., Illa, Isabel, Jacob, Saiju, Vissing, John, Burns, Ted M., Kissel, John T., Nowak, Richard J., Andersen, Henning, Casasnovas, Carlos, de Bleecker, Jan L., Vu, Tuan H., Mantegazza, Renato, O'Brien, Fanny L., Wang, Jing Jing, Fujita, Kenji P., Howard, James F.
發表在 Muscle Nerve (2019)

Guillain-Barré syndrome following the 2009 pandemic monovalent and seasonal trivalent influenza vaccination campaigns in Spain from 2009 to 2011: outcomes from active surveillance...

由 Alcalde-Cabero, Enrique, Almazán-Isla, Javier, García López, Fernando J., Ara-Callizo, José Ramón, Avellanal, Fuencisla, Casasnovas, Carlos, Cemillán, Carlos, Cuadrado, José Ignacio, Duarte, Jacinto, Fernández-Pérez, María Dolores, Fernández, Óscar, Merino, Juan Antonio García, Montero, Rosa García, Montero, Dolores, Pardo, Julio, Rodríguez-Rivera, Francisco Javier, Ruiz-Tovar, María, de Pedro-Cuesta, Jesús
發表在 BMC Neurol (2016)

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

由 Sivera, Rafael, Frasquet, Marina, Lupo, Vincenzo, García-Sobrino, Tania, Blanco-Arias, Patricia, Pardo, Julio, Fernández-Torrón, Roberto, de Munain, Adolfo López, Márquez-Infante, Celedonio, Villarreal, Liliana, Carbonell, Pilar, Rojas-García, Ricard, Segovia, Sonia, Illa, Isabel, Frongia, Anna Lia, Nascimento, Andrés, Ortez, Carlos, García-Romero, María del Mar, Pascual, Samuel Ignacio, Pelayo-Negro, Ana Lara, Berciano, José, Guerrero, Antonio, Casasnovas, Carlos, Camacho, Ana, Esteban, Jesús, Chumillas, María José, Barreiro, Marisa, Díaz, Carmen, Palau, Francesc, Vílchez, Juan Jesús, Espinós, Carmen, Sevilla, Teresa
發表在 Sci Rep (2017)

Clinical and therapeutic features of myasthenia gravis in adults based on age at onset

由 Cortés-Vicente, Elena, Álvarez-Velasco, Rodrigo, Segovia, Sonia, Paradas, Carmen, Casasnovas, Carlos, Guerrero-Sola, Antonio, Pardo, Julio, Ramos-Fransi, Alba, Sevilla, Teresa, López de Munain, Adolfo, Gómez, Maria Teresa, Jericó, Ivonne, Gutiérrez-Gutiérrez, Gerardo, Pelayo-Negro, Ana Lara, Martín, María Asunción, Mendoza, María Dolores, Morís, Germán, Rojas-Garcia, Ricard, Díaz-Manera, Jordi, Querol, Luis, Gallardo, Eduard, Vélez, Beatriz, Albertí, María Antonia, Galán, Lucía, García-Sobrino, Tania, Martínez-Piñeiro, Alicia, Lozano-Veintimilla, Ana, Fernández-Torrón, Roberto, Cano-Abascal, Ángel, Illa, Isabel
發表在 Neurology (2020)

Epigenome-wide association study of COVID-19 severity with respiratory failure

由 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-Garcia, Judit, Horcajada, Juan P., Albu, Sergiu, Casasnovas, Carlos, Rull, Anna, Reverte, Laia, Dietl, Beatriz, Dalmau, David, Arranz, Maria J., Llucià-Carol, Laia, Planas, Anna M., Pérez-Tur, Jordi, Fernandez-Cadenas, Israel, Villares, Paula, Tenorio, Jair, Colobran, Roger, Martin-Nalda, Andrea, Soler-Palacin, Pere, Vidal, Francesc, Pujol, Aurora, Esteller, Manel
發表在 EBioMedicine (2021)

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

由 Pant, Devesh C., Dorboz, Imen, Schluter, Agatha, Fourcade, Stéphane, Launay, Nathalie, Joya, Javier, Aguilera-Albesa, Sergio, Yoldi, Maria Eugenia, Casasnovas, 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, Gholamreza, Colleaux, Laurence, Rodriguez, Diana, Gleeson, Joseph G., Pujades, Cristina, Fatemi, Ali, Boespflug-Tanguy, Odile, Pujol, Aurora
發表在 J Clin Invest (2019)