Search Results - "Turon, Janina"

Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation by Frasquet, Marina, Rojas‐García, Ricard, Argente‐Escrig, Herminia, Vázquez‐Costa, Juan Francisco, Muelas, Nuria, Vílchez, Juan Jesús, Sivera, Rafael, Millet, Elvira, Barreiro, Marisa, Díaz‐Manera, Jordi, Turon‐Sans, Janina, Cortés‐Vicente, Elena, Querol, Luis, Ramírez‐Jiménez, Laura, Martínez‐Rubio, Dolores, Sánchez‐Monteagudo, Ana, Espinós, Carmen, Sevilla, Teresa, Lupo, Vincenzo

“…Background and purpose Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of disorders characterized by degeneration of the motor component…”
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Cortical microstructure in the amyotrophic lateral sclerosis–frontotemporal dementia continuum by Illán-Gala, Ignacio, Montal, Victor, Pegueroles, Jordi, Vilaplana, Eduard, Alcolea, Daniel, Dols-Icardo, Oriol, de Luna, Noemi, Turón-Sans, Janina, Cortés-Vicente, Elena, Martinez-Roman, Luis, Sánchez-Saudinós, Maria Belén, Subirana, Andrea, Videla, Laura, Sala, Isabel, Barroeta, Isabel, Valldeneu, Sílvia, Blesa, Rafael, Clarimón, Jordi, Lleó, Alberto, Fortea, Juan, Rojas-García, Ricard

“…OBJECTIVETo characterize the cortical macrostructure and microstructure of behavioral and cognitive changes along the amyotrophic lateral sclerosis…”
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Leptospirosis‐induced acute acquired inflammatory neuropathy by Xucla‐Ferrarons, Tomas, Turon‐Sans, Janina, Caballero‐Avila, Marta, Cortes‐Vicente, Elena, Rojas‐Garcia, Ricard

“…Leptospirosis is a zoonotic infection that can present with neurological manifestations. Although uncommon, it may affect the peripheral nervous system in the…”
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Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease by Vázquez‐Costa, Juan F., Borrego‐Hernández, Daniel, Paradas, Carmen, Gómez‐Caravaca, María Teresa, Rojas‐Garcia, Ricardo, Varona, Luis, Povedano, Mónica, García‐Sobrino, Tania, Jericó Pascual, Ivonne, Gutiérrez, Antonio, Riancho, Javier, Turon‐Sans, Janina, Assialioui, Abdelilah, Pérez‐Tur, Jordi, Sevilla, Teresa, Esteban Pérez, Jesús, García‐Redondo, Alberto, López, Alberto Andrés, Calabria, M. Dolores, Díaz‐Marín, Carmen, Caravaca, Eva Fages, Dávila, Lucía Galán, Martínez, Alberto García, Gimenez‐Muñoz, Álvaro, Sola, Antonio Guerrero, Cadavid, Javier Mascías, Mora Pardina, Jesús S., Blanco, José Luis Muñoz, Juntas‐Morales, Raúl, Morgado, Yolanda, Pardo, Julio, Valladares, Amador, Vilar‐Ventura, Rosa Maria

“…Background and purpose The aim of this study was to describe the frequency and distribution of SOD1 mutations in Spain, and to explore factors contributing to…”
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A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction? by Fionda, Laura, Turon‐Sans, Janina, Fuentes Prior, Pablo, Bernal Noguera, Sara, Cortés‐Vicente, Elena, López‐Pérez, Maria Angeles, Gallardo, Eduard, Rojas‐García, Ricard

“…We report the case of a patient with a clinical phenotype characterized by distal lower limb weakness and pes cavus. The electrophysiological study showed…”
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Decreased circulating ErbB4 ectodomain fragments as a read-out of impaired signaling function in amyotrophic lateral sclerosis by Lopez-Font, Inmaculada, Sogorb-Esteve, Aitana, Javier-Torrent, Míriam, Brinkmalm, Gunnar, Herrando-Grabulosa, Mireia, García-Lareu, Belen, Turon-Sans, Janina, Rojas-García, Ricardo, Lleó, Alberto, Saura, Carlos A., Zetterberg, Henrik, Blennow, Kaj, Bosch, Assumpció, Navarro, Xavier, Sáez-Valero, Javier

“…ErbB4 is a transmembrane receptor tyrosine kinase that binds to neuregulins to activate signaling. Proteolytic cleavage of ErbB4 results in release of soluble…”
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Pathophysiological Underpinnings of Extra-Motor Neurodegeneration in Amyotrophic Lateral Sclerosis: New Insights From Biomarker Studies by Reyes-Leiva, David, Dols-Icardo, Oriol, Sirisi, Sonia, Cortés-Vicente, Elena, Turon-Sans, Janina, de Luna, Noemi, Blesa, Rafael, Belbin, Olivia, Montal, Victor, Alcolea, Daniel, Fortea, Juan, Lleó, Alberto, Rojas-García, Ricard, Illán-Gala, Ignacio

“…Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) lie at opposing ends of a clinical, genetic, and neuropathological continuum…”
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CSF sAPPβ, YKL-40, and NfL along the ALS-FTD spectrum by Illán-Gala, Ignacio, Alcolea, Daniel, Montal, Victor, Dols-Icardo, Oriol, Muñoz, Laia, de Luna, Noemi, Turón-Sans, Janina, Cortés-Vicente, Elena, Sánchez-Saudinós, Ma Belén, Subirana, Andrea, Sala, Isabel, Blesa, Rafael, Clarimón, Jordi, Fortea, Juan, Rojas-García, Ricard, Lleó, Alberto

“…OBJECTIVETo investigate the clinical utility of 3 CSF biomarkers along the clinical spectrum of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia…”
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Clinical characteristics and outcomes of thymoma‐associated myasthenia gravis by Álvarez‐Velasco, Rodrigo, Gutiérrez‐Gutiérrez, Gerardo, Trujillo, Juan Carlos, Martínez, Elisabeth, Segovia, Sonia, Arribas‐Velasco, Marina, Fernández, Guillermo, Paradas, Carmen, Vélez‐Gómez, Beatriz, Casasnovas, Carlos, Nedkova, Velina, Guerrero‐Sola, Antonio, Ramos‐Fransi, Alba, Martínez‐Piñeiro, Alicia, Pardo, Julio, Sevilla, Teresa, Gómez‐Caravaca, María Teresa, López de Munain, Adolfo, Jericó, Ivonne, Pelayo‐Negro, Ana L., Martín, María Asunción, Morgado, Yolanda, Mendoza, María Dolores, Pérez‐Pérez, Helena, Rojas‐García, Ricard, Turon‐Sans, Janina, Querol, Luis, Gallardo, Eduard, Illa, Isabel, Cortés‐Vicente, Elena

“…Background and purpose Prognosis of myasthenia gravis (MG) in patients with thymoma is not well established. Moreover, it is not clear whether thymoma…”
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Cortical microstructure in the behavioural variant of frontotemporal dementia: looking beyond atrophy by Illán-Gala, Ignacio, Montal, Victor, Borrego-Écija, Sergi, Vilaplana, Eduard, Pegueroles, Jordi, Alcolea, Daniel, Sánchez-Saudinós, Belén, Clarimón, Jordi, Turón-Sans, Janina, Bargalló, Nuria, González-Ortiz, Sofía, Rosen, Howard J, Gorno-Tempini, Maria Luisa, Miller, Bruce L, Lladó, Albert, Rojas-García, Ricard, Blesa, Rafael, Sánchez-Valle, Raquel, Lleó, Alberto, Fortea, Juan

“…Cortical mean diffusivity has been proposed as a useful biomarker for the study of cortical microstructure in neurodegenerative diseases. Illán-Gala et al…”
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A nationwide Guillain–Barré syndrome epidemiological study in Spain during the COVID‐19 years by Blanco‐Ruiz, Marina, Martín‐Aguilar, Lorena, Caballero‐Ávila, Marta, Lleixà, Cinta, Pascual‐Goñi, Elba, Collet‐Vidiella, Roger, Tejada‐Illa, Clara, Turon‐Sans, Janina, Carbayo, Álvaro, Llansó, Laura, Cortés, Elena, Amaya Pascasio, Laura, Querol, Luis

“…Background and purpose The purpose was to perform a nationwide epidemiological study of Guillain–Barré syndrome (GBS) in Spain, analysing background incidences…”
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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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Motor cortex transcriptome reveals microglial key events in amyotrophic lateral sclerosis by Dols-Icardo, Oriol, Montal, Víctor, Sirisi, Sònia, López-Pernas, Gema, Cervera-Carles, Laura, Querol-Vilaseca, Marta, Muñoz, Laia, Belbin, Olivia, Alcolea, Daniel, Molina-Porcel, Laura, Pegueroles, Jordi, Turón-Sans, Janina, Blesa, Rafael, Lleó, Alberto, Fortea, Juan, Rojas-García, Ricard, Clarimón, Jordi

“…OBJECTIVETo identify transcriptomic changes, neuropathologic correlates, and cellular subpopulations in the motor cortex of sporadic amyotrophic lateral…”
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Professor Isabel Illa (1952 - 2022) by Olivé, Montse, Gallardo, Eduard, Querol, Luis, Rojas, Ricard, Turon, Janina

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The Sant Pau Initiative on Neurodegeneration (SPIN) cohort: A data set for biomarker discovery and validation in neurodegenerative disorders by Alcolea, Daniel, Clarimón, Jordi, Carmona-Iragui, María, Illán-Gala, Ignacio, Morenas-Rodríguez, Estrella, Barroeta, Isabel, Ribosa-Nogué, Roser, Sala, Isabel, Sánchez-Saudinós, M. Belén, Videla, Laura, Subirana, Andrea, Benejam, Bessy, Valldeneu, Sílvia, Fernández, Susana, Estellés, Teresa, Altuna, Miren, Santos-Santos, Miguel, García-Losada, Lídia, Bejanin, Alexandre, Pegueroles, Jordi, Montal, Víctor, Vilaplana, Eduard, Belbin, Olivia, Dols-Icardo, Oriol, Sirisi, Sònia, Querol-Vilaseca, Marta, Cervera-Carles, Laura, Muñoz, Laia, Núñez, Raúl, Torres, Soraya, Camacho, M. Valle, Carrió, Ignasi, Giménez, Sandra, Delaby, Constance, Rojas-Garcia, Ricard, Turon-Sans, Janina, Pagonabarraga, Javier, Jiménez, Amanda, Blesa, Rafael, Fortea, Juan, Lleó, Alberto

“…The SPIN (Sant Pau Initiative on Neurodegeneration) cohort is a multimodal biomarker platform designed for neurodegenerative disease research following an…”
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Drug‐refractory myasthenia gravis: Clinical characteristics, treatments, and outcome by Cortés‐Vicente, Elena, Álvarez‐Velasco, Rodrigo, Pla‐Junca, Francesc, Rojas‐Garcia, Ricard, Paradas, Carmen, Sevilla, Teresa, Casasnovas, Carlos, Gómez‐Caravaca, María Teresa, Pardo, Julio, Ramos‐Fransi, Alba, Pelayo‐Negro, Ana Lara, Gutiérrez‐Gutiérrez, Gerardo, Turon‐Sans, Janina, López de Munain, Adolfo, Guerrero‐Sola, Antonio, Jericó, Ivonne, Martín, María Asunción, Mendoza, María Dolores, Morís, Germán, Vélez‐Gómez, Beatriz, Garcia‐Sobrino, Tania, Pascual‐Goñi, Elba, Reyes‐Leiva, David, Illa, Isabel, Gallardo, Eduard

“…Objective To describe the clinical characteristics and outcomes in patients with refractory myasthenia gravis (MG) and to determine the effectiveness and side…”
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Mutation update for the ACTN2 gene by Ranta‐aho, Johanna, Olive, Montse, Vandroux, Marie, Roticiani, Giorgia, Dominguez, Cristina, Johari, Mridul, Torella, Annalaura, Böhm, Johann, Turon, Janina, Nigro, Vincenzo, Hackman, Peter, Laporte, Jocelyn, Udd, Bjarne, Savarese, Marco

“…ACTN2 encodes alpha‐actinin‐2, a protein expressed in human cardiac and skeletal muscle. The protein, located in the sarcomere Z‐disk, functions as a link…”
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A nationwide Guillain–Barré syndrome epidemiological study in Spain during the COVID‐19years by Marina Blanco‐Ruiz, Lorena Martín‐Aguilar, Marta Caballero‐Ávila, Lleixà, Cinta, Elba Pascual‐Goñi, Roger Collet‐Vidiella, Clara Tejada‐Illa, Janina Turon‐Sans, Carbayo, Álvaro, Llansó, Laura, Cortés, Elena, Laura Amaya Pascasio, Querol, Luis

“…Background and purposeThe purpose was to perform a nationwide epidemiological study of Guillain–Barré syndrome (GBS) in Spain, analysing background incidences…”
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CORTICAL MICROSTRUCTURAL CHANGES IN FRONTOTEMPORAL LOBAR DEGENERATION: A NEW IMAGING BIOMARKER by Illán-Gala, Ignacio, Montal, Victor, Vilaplana, Eduard, Pegueroles, Jordi, Alcolea, Daniel, Turón-Sans, Janina, Lladó, Albert, Blesa, Rafael, Sanchez-Valle, Raquel, Lleó, Alberto, Rojas-García, Ricard, Fortea, Juan

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Rituximab in myasthenia gravis: efficacy, associated infections and risk of induced hypogammaglobulinemia by Caballero-Ávila, Marta, Álvarez-Velasco, Rodrigo, Moga, Esther, Rojas-Garcia, Ricard, Turon-Sans, Janina, Querol, Luis, Olivé, Montse, Reyes-Leiva, David, Illa, Isabel, Gallardo, Eduard, Cortés-Vicente, Elena

“…•Rituximab is effective in patients with myasthenia gravis.•Patients with Anti-MusK antibodies respond better.•Severe infections may appear after rituximab…”
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