Search Results - "Gámez, Josep"

K ATP Channel Expression and Genetic Polymorphisms Associated with Progression and Survival in Amyotrophic Lateral Sclerosis by Vidal-Taboada, José M, Pugliese, Marco, Salvadó, Maria, Gámez, Josep, Mahy, Nicole, Rodríguez, Manuel J

“…The ATP-sensitive potassium (K ) channel directly regulates the microglia-mediated inflammatory response following CNS injury. To determine the putative role…”
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TAR DNA-Binding Protein 43 Accumulation in Protein Aggregate Myopathies by Olivé, Montse, Janué, Anna, Moreno, Dolores, Gámez, Josep, Torrejón-Escribano, Benjamín, Ferrer, Isidre

“…Protein aggregate myopathies, including myofibrillar myopathies and sporadic inclusion body myositis (sIBM), are characterized by abnormal protein aggregates…”
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Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy by Tondo, Mireia, Gámez, Josep, Gutiérrez-Rivas, Eduardo, Medel-Jiménez, Ramón, Martorell, Loreto

“…Oculopharyngeal muscular dystrophy is an autosomal dominant adult-onset disease with several clinical features. The genetic cause is an expanded (GCN)n…”
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Masitinib as an add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a randomized clinical trial by Mora, Jesus S., Genge, Angela, Chio, Adriano, Estol, Conrado J., Chaverri, Delia, Hernández, Maria, Marín, Saúl, Mascias, Javier, Rodriguez, Gabriel E., Povedano, Monica, Paipa, Andrés, Dominguez, Raul, Gamez, Josep, Salvado, Maria, Lunetta, Christian, Ballario, Carlos, Riva, Nilo, Mandrioli, Jessica, Moussy, Alain, Kinet, Jean-Pierre, Auclair, Christian, Dubreuil, Patrice, Arnold, Vincent, Mansfield, Colin D., Hermine, Olivier

“…Objective: To assess masitinib in the treatment of ALS. Methods: Double-blind study, randomly assigning 394 patients (1:1:1) to receive riluzole (100 mg/d)…”
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No need for more muscle biopsies in members of the Spanish LGMD1F family. The gene has been identified at last by Gamez, Josep

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Transthyretin stabilization activity of the catechol-O-methyltransferase inhibitor tolcapone (SOM0226) in hereditary ATTR amyloidosis patients and asymptomatic carriers: proof-of-concept study by Gamez, Josep, Salvadó, María, Reig, Núria, Suñé, Pilar, Casasnovas, Carles, Rojas-Garcia, Ricard, Insa, Raúl

“…Objective: To assess the transthyretin (TTR) stabilization activity of tolcapone (SOM0226) in patients with hereditary ATTR amyloidosis, asymptomatic carriers…”
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A coordinated transition model for patients with cystinosis: from pediatric to adult care by Ariceta, Gema, Camacho, Juan Antonio, Fernández-Obispo, Matilde, Fernández-Polo, Aurora, Gámez, Josep, García-Villoria, Judit, Lara, Enrique, Leyes, Pere, Martín-Begué, Nieves, Perelló, Manel, Pintos-Morell, Guillem, Torra, Roser, Torregrosa, J. Vicenç, Torres-Sierra, Sandra, Vila-Santandreu, Anna, Güell, Ana

“…Introduction: Improved outcome and longer life expectancy in patients with cystinosis and the intrinsic complexity of the disease, underline the need for a…”
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Long-term survival analysis of masitinib in amyotrophic lateral sclerosis by Mora, Jesus S., Bradley, Walter G., Chaverri, Delia, Hernández-Barral, María, Mascias, Javier, Gamez, Josep, Gargiulo-Monachelli, Gisella M., Moussy, Alain, Mansfield, Colin D., Hermine, Olivier, Ludolph, Albert C.

“…Background: A randomized, placebo-controlled phase III study (AB10015) previously demonstrated that orally administered masitinib (4.5 mg/kg/day) slowed rate…”
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Clinicopathological correlates in the frontotemporal lobar degeneration-motor neuron disease spectrum by Carbayo, Álvaro, Borrego-Écija, Sergi, Turon-Sans, Janina, Cortés-Vicente, Elena, Molina-Porcel, Laura, Gascón-Bayarri, Jordi, Rubio, Miguel Ángel, Povedano, Mónica, Gámez, Josep, Sotoca, Javier, Juntas-Morales, Raúl, Almendrote, Miriam, Marquié, Marta, Sánchez-Valle, Raquel, Illán-Gala, Ignacio, Dols-Icardo, Oriol, Rubio-Guerra, Sara, Bernal, Sara, Caballero-Ávila, Marta, Vesperinas, Ana, Gelpi, Ellen, Rojas-García, Ricard

“…Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease (MND) that shares a common clinical, genetic and pathologic spectrum with…”
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Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene by MELIA, Maria J, KUBOTA, Akatsuki, GARCIA-ARUMI, Elena, ANDREU, Antoni L, NAVARRO, Carmen, HIRANO, Michio, MARTI, Ramon, ORTOLANO, Saida, VILCHEZ, Juan J, GAMEZ, Josep, TANJ I, Kurenai, BONILLA, Eduardo, PALENZUELA, Lluís, FERNANDEZ-CADENAS, Israel, PRISTOUPILOVA, Anna

“…In 2001, we reported linkage of an autosomal dominant form of limb-girdle muscular dystrophy, limb-girdle muscular dystrophy 1F, to chromosome 7q32.1-32.2, but…”
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Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion by Poyatos‐García, Javier, Martí, Pilar, Liquori, Alessandro, Muelas, Nuria, Pitarch, Inmaculada, Martinez‐Dolz, Luis, Rodríguez, Benjamin, Gonzalez‐Quereda, Lidia, Damiá, Maria, Aller, Elena, Selva‐Gimenez, Marta, Vilchez, Roger, Diaz‐Manera, Jordi, Alonso‐Pérez, Jorge, Barcena, José Eulalio, Jauregui, Amaia, Gámez, Josep, Aladrén, Jesus Angel, Fernández, Ariadna, Montolio, Marisol, Azorin, Inmaculada, Hervas, David, Casasús, Ana, Nieto, Marisa, Gallano, Pia, Sevilla, Teresa, Vilchez, Juan Jesus

“…Objective Duchenne muscular dystrophy (DMD) exon 45–55 deletion (del45–55) has been postulated as a model that could treat up to 60% of DMD patients, but the…”
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CX3CR1 is a modifying gene of survival and progression in amyotrophic lateral sclerosis by Lopez-Lopez, Alan, Gamez, Josep, Syriani, Emilio, Morales, Miguel, Salvado, Maria, Rodríguez, Manuel J, Mahy, Nicole, Vidal-Taboada, Jose M

“…The objective of this study was to investigate the association of functional variants of the human CX3CR1 gene (Fractalkine receptor) with the risk of…”
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Randomized phase 2 study of ACE‐083, a muscle‐promoting agent, in facioscapulohumeral muscular dystrophy by Statland, Jeffrey M., Campbell, Craig, Desai, Urvi, Karam, Chafic, Díaz‐Manera, Jordi, Guptill, Jeffrey T., Korngut, Lawrence, Genge, Angela, Tawil, Rabi N., Elman, Lauren, Joyce, Nanette C., Wagner, Kathryn R., Manousakis, Georgios, Amato, Anthony A., Butterfield, Russell J., Shieh, Perry B., Wicklund, Matthew, Gamez, Josep, Bodkin, Cynthia, Pestronk, Alan, Weihl, Conrad C., Vilchez‐Padilla, Juan J., Johnson, Nicholas E., Mathews, Katherine D., Miller, Barry, Leneus, Ashley, Fowler, Marcie, Rijn, Marc, Attie, Kenneth M.

“…Introduction/Aims Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive muscular dystrophy without approved therapies. In this study we…”
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Cognitive decline in amyotrophic lateral sclerosis: Neuropathological substrate and genetic determinants by Borrego‐Écija, Sergi, Turon‐Sans, Janina, Ximelis, Teresa, Aldecoa, Iban, Molina‐Porcel, Laura, Povedano, Mónica, Rubio, Miguel Angel, Gámez, Josep, Cano, Antonio, Paré‐Curell, Martí, Bajo, Lorena, Sotoca, Javier, Clarimón, Jordi, Balasa, Mircea, Antonell, Anna, Lladó, Albert, Sánchez‐Valle, Raquel, Rojas‐García, Ricard, Gelpi, Ellen

“…Cognitive impairment and behavioral changes in amyotrophic lateral sclerosis (ALS) are now recognized as part of the disease. Whether it is solely related to…”
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Intravenous immunoglobulin to prevent myasthenic crisis after thymectomy and other procedures can be omitted in patients with well-controlled myasthenia gravis by Gamez, Josep, Salvadó, María, Carmona, Francesc, de Nadal, Miriam, Romero, Laura, Ruiz, Daniel, Jáuregui, Alberto, Martínez, Olga, Pérez, Javier, Suñé, Pilar, Deu, María

“…Background: Myasthenic crisis (MC) is a potentially life-threatening complication of myasthenia gravis. Its precipitating factors include surgical procedures,…”
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KATP Channel Expression and Genetic Polymorphisms Associated with Progression and Survival in Amyotrophic Lateral Sclerosis by Vidal-Taboada, José M., Pugliese, Marco, Salvadó, Maria, Gámez, Josep, Mahy, Nicole, Rodríguez, Manuel J.

“…The ATP-sensitive potassium (K ATP ) channel directly regulates the microglia-mediated inflammatory response following CNS injury. To determine the putative…”
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UNC13A confers risk for sporadic ALS and influences survival in a Spanish cohort by Vidal-Taboada, Jose Manuel, Lopez-Lopez, Alan, Salvado, Maria, Lorenzo, Laura, Garcia, Cecilia, Mahy, Nicole, Rodríguez, Manuel J., Gamez, Josep

“…To investigate the association of functional variants of the human UNC13A gene with the risk of ALS, survival and the disease progression rate in a Spanish ALS…”
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Influence of early neurological complications on clinical outcome following lung transplant by Gamez, Josep, Salvado, Maria, Martinez-de La Ossa, Alejandro, Deu, Maria, Romero, Laura, Roman, Antonio, Sacanell, Judith, Laborda, Cesar, Rochera, Isabel, Nadal, Miriam, Carmona, Francesc, Santamarina, Estevo, Raguer, Nuria, Canela, Merce, Solé, Joan

“…Neurological complications after lung transplantation are common. The full spectrum of neurological complications and their impact on clinical outcomes has not…”
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Transición coordinada del paciente con cistinosis desde la medicina pediátrica a la medicina del adulto by Ariceta, Gema, Camacho, Juan Antonio, Fernández-Obispo, Matilde, Fernández-Polo, Aurora, Gámez, Josep, García-Villoria, Judit, Lara, Enrique, Leyes, Pere, Martín-Begué, Nieves, Perelló, Manel, Pintos-Morell, Guillem, Torra, Roser, Torregrosa, J. Vicens, Torres-Sierra, Sandra, Vila-Santandreu, Anna, Güell, Ana

“…El aumento de la supervivencia de los pacientes con cistinosis y la propia complejidad de la enfermedad explican la necesidad de implementar un proceso de…”
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Autoimmune-like hepatitis during masitinib therapy in an amyotrophic lateral sclerosis patient by Salvado, Maria, Vargas, Victor, Vidal, Marta, Simon-Talero, Macarena, Camacho, Jessica, Gamez, Josep

“…We report a case of acute severe hepatitis resulting from masitinib in a young amyotrophic lateral sclerosis patient. Hepatotoxicity induced by masitinib,a…”
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