Search Results - "Blanco, Jose Munoz"

Neurological complications of COVID‐19 in hospitalized patients: The registry of a neurology department in the first wave of the pandemic by Portela‐Sánchez, Sofía, Sánchez‐Soblechero, Antonio, Melgarejo Otalora, Pedro José, Rodríguez López, Ángela, Velilla Alonso, Gabriel, Palacios‐Mendoza, Michael Armando, Cátedra Caramé, Carlos, Amaya Pascasio, Laura, Mas Serrano, Miguel, Massot‐Tarrús, Andreu, De La Casa‐Fages, Beatriz, Díaz‐Otero, Fernando, Catalina, Irene, García Domínguez, Jose Manuel, Pérez‐Sánchez, Javier Ricardo, Muñoz‐Blanco, José Luis, Grandas, Francisco

“…Objective To describe the spectrum of neurological complications observed in a hospital‐based cohort of COVID‐19 patients who required a neurological…”
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Long-term outcome in chronic inflammatory demyelinating polyneuropathy patients treated with intravenous immunoglobulin: A retrospective study by Querol, Luis, Rojas-Garcia, Ricard, Casasnovas, Carlos, Sedano, Maria Jose, Muñoz-Blanco, Jose Luis, Alberti, Maria Antonia, Paradas, Carmen, Sevilla, Teresa, Pardo, Julio, Capablo, Jose Luis, Sivera, Rafael, Guerrero, Antonio, Gutierrez-Rivas, Eduardo, Illa, Isabel

“…ABSTRACT Introduction: The objective of this retrospective study was to describe the short‐ and long‐term patterns of IVIg use, safety, and response to…”
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Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study by Navas-Sánchez, Francisco J., Marcos-Vidal, Luis, de Blas, Daniel Martín, Fernández-Pena, Alberto, Alemán-Gómez, Yasser, Guzmán-de-Villoria, Juan A., Romero, Julia, Catalina, Irene, Lillo, Laura, Muñoz-Blanco, José L., Ordoñez-Ugalde, Andrés, Quintáns, Beatriz, Sobrido, María-Jesús, Carmona, Susanna, Grandas, Francisco, Desco, Manuel

“…Background SPG4 is a subtype of hereditary spastic paraplegia (HSP), an upper motor neuron disorder characterized by axonal degeneration of the corticospinal…”
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Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4 by Navas-Sánchez, Francisco J., Fernández-Pena, Alberto, Martín de Blas, Daniel, Alemán-Gómez, Yasser, Marcos-Vidal, Luís, Guzmán-de-Villoria, Juan A., Fernández-García, Pilar, Romero, Julia, Catalina, Irene, Lillo, Laura, Muñoz-Blanco, José L., Ordoñez-Ugalde, Andrés, Quintáns, Beatriz, Pardo, Julio, Sobrido, María-Jesús, Carmona, Susanna, Grandas, Francisco, Desco, Manuel

“…SPG4 is an autosomal dominant pure form of hereditary spastic paraplegia (HSP) caused by mutations in the SPAST gene. HSP is considered an upper motor neuron…”
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Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion” by De la Casa‐Fages, Beatriz, Fernández‐Eulate, Gorka, Gamez, Josep, Barahona‐Hernando, Raúl, Morís, Germán, García‐Barcina, María, Infante, Jon, Zulaica, Miren, Fernández‐Pelayo, Uxoa, Muñoz‐Oreja, Mikel, Urtasun, Miguel, Olaskoaga, Ander, Zelaya, Victoria, Jericó, Ivonne, Saez‐Villaverde, Raquel, Catalina, Irene, Sola, Emma, Martínez‐Sáez, Elena, Pujol, Aurora, Ruiz, Montserrat, Schlüter, Agatha, Spinazzola, Antonella, Muñoz‐Blanco, Jose Luis, Grandas, Francisco, Holt, Ian, Álvarez, Victoria, López de Munaín, Adolfo

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Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4) by Navas-Sánchez, Francisco J., Martín De Blas, Daniel, Fernández-Pena, Alberto, Alemán-Gómez, Yasser, Lage-Castellanos, Agustín, Marcos-Vidal, Luis, Guzmán-De-Villoria, Juan A., Catalina, Irene, Lillo, Laura, Muñoz-Blanco, José L., -Ugalde, Andrés Ordoñez, Quintáns, Beatriz, Sobrido, María-Jesús, Carmona, Susanna, Grandas, Francisco, Desco, Manuel

“…Objective: SPG4 is an autosomal dominant pure form of hereditary spastic paraplegia (HSP) caused by mutations in the SPAST gene. HSP is considered an upper…”
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Collagen XIX Alpha 1 Improves Prognosis in Amyotrophic Lateral Sclerosis by Calvo, Ana C, Cibreiro, Gabriela Atencia, Merino, Paz Torre, Roy, Juan F, Galiana, Adrián, Rufián, Alexandra Juárez, Cano, Juan M, Martín, Miguel A, Moreno, Laura, Larrodé, Pilar, Vázquez, Pilar Cordero, Galán, Lucía, Mora, Jesús, Muñoz-Blanco, José L, Muñoz, María J, Zaragoza, Pilar, Pegoraro, Elena, Sorarù, Gianni, Mora, Marina, Lunetta, Christian, Penco, Silvana, Tarlarini, Claudia, Esteban, Jesús, Osta, Rosario, Redondo, Alberto García

“…The identification of more reliable diagnostic or prognostic biomarkers in age-related neurodegenerative diseases, such as Amyotrophic Lateral Sclerosis (ALS),…”
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Should Advanced Friedreich's Ataxia Be a Contraindication for Heart Transplantation? A Case Report of a Successful Procedure in a 58-Year-Old Patient by Valero, María Jesús, Muñoz-Blanco, Jose L, Sanchez, Alejandro Garrido, Cuerpo, Gregorio, Castrodeza, Javier, Navas, Paula, Sousa, Iago, Villa, Adolfo, Fernández-Avilés, Francisco, Martínez-Sellés, Manuel

“…The information on heart transplantation (HT) in patients with Friedreich's Ataxia (FA) is scarce, and the few published case reports are limited to young…”
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Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism by De la Casa‐Fages, Beatriz, Fernández‐Eulate, Gorka, Gamez, Josep, Barahona‐Hernando, Raúl, Morís, Germán, García‐Barcina, María, Infante, Jon, Zulaica, Miren, Fernández‐Pelayo, Uxoa, Muñoz‐Oreja, Mikel, Urtasun, Miguel, Olaskoaga, Ander, Zelaya, Victoria, Jericó, Ivonne, Saez‐Villaverde, Raquel, Catalina, Irene, Sola, Emma, Martínez‐Sáez, Elena, Pujol, Aurora, Ruiz, Montserrat, Schlüter, Agatha, Spinazzola, Antonella, Muñoz‐Blanco, Jose Luis, Grandas, Francisco, Holt, Ian, Álvarez, Victoria, López de Munaín, Adolfo

“…Background Pathogenic variants in the spastic paraplegia type 7 gene cause a complicated hereditary spastic paraplegia phenotype associated with classical…”
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Amifampridine phosphate (Firdapse®) is effective and safe in a phase 3 clinical trial in LEMS by Oh, Shin J, Shcherbakova, Natalya, Kostera-Pruszczyk, Anna, Alsharabati, Mohammad, Dimachkie, Mazen, Blanco, Jose Munoz, Brannagan, Thomas, Lavrnić, Dragana, Shieh, Perry B, Vial, Christophe, Meisel, Andreas, Komoly, Samuel, Schoser, Benedikt, Sivakumar, Kumaraswamy, So, Yuen

“…Objective We evaluated the efficacy and safety of amifampridine phosphate (Firdapse®) for symptomatic treatment in Lambert‐Eaton myasthenic syndrome (LEMS)…”
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Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease by Alonso-Pérez, Jorge, Segovia, Sonia, Domínguez-González, Cristina, Olivé, Montse, Mendoza Grimón, María Dolores, Fernández-Torrón, Roberto, López de Munain, Adolfo, Muñoz-Blanco, José Luis, Ramos-Fransi, Alba, Almendrote, Miriam, Illa, Isabel, Díaz-Manera, Jordi

“…Pompe disease is a rare autosomal recessive disorder produced by a deficiency of acid maltase. This deficit produces an accumulation of glycogen in tissues…”
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Occipital condyle syndrome guiding diagnosis to metastatic prostate cancer by MARTINEZ SALAMANCA, JUAN IGNACIO, MURRIETA, CONCEPCION, JARA, JOSE, MUNOZ‐BLANCO, JOSE LUIS, ALVAREZ, FEDERICO, DE VILLORIA, JUAN GUZMAN, HERNANDEZ, CARLOS

“…Occipital condyle syndrome (OCS) results from a unilateral occipital pain associated with an ipsilateral paresis of the 12th cranial nerve (hypoglossal), and…”
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Multiple symmetric lipomatosis as a marker of mitochondrial disease. Case report and review of the literature by de Miguel-Sánchez, Carlos José, Gómez, Gemma Lafuente, Hidalgo, Rafael Leal, Álvarez, Irene Catalina, Encinar, Alberto Blazquez, Blanco, Jose Luis Muñoz, Lotto, Francisco Arias, Rodríguez, Maria Isabel Esteban, Sánchez, Sofía Portela

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ALS: A bucket of genes, environment, metabolism and unknown ingredients by Zufiría, Mónica, Gil-Bea, Francisco Javier, Fernández-Torrón, Roberto, Poza, Juan José, Muñoz-Blanco, Jose Luis, Rojas-García, Ricard, Riancho, Javier, López de Munain, Adolfo

“…The scientific scenario of amyotrophic lateral sclerosis (ALS) has dramatically changed since TDP-43 aggregates were discovered in 2006 as the main component…”
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Immunoserologic Detection and Diagnostic Relevance of Cross-Reactive Autoantibodies in Coronavirus Disease 2019 Patients by Schiaffino, María Teresa, Di Natale, Marisa, García-Martínez, Elena, Navarro, Joaquín, Muñoz-Blanco, José Luis, Demelo-Rodríguez, Pablo, Sánchez-Mateos, Paloma

“…During the coronavirus disease 2019 (COVID-19) pandemic, we detected a new immunofluorescence (IF) pattern in serum autoantibody (autoAb) screening of…”
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Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia by Dols-Icardo, Oriol, García-Redondo, Alberto, Rojas-García, Ricard, Sánchez-Valle, Raquel, Noguera, Aina, Gómez-Tortosa, Estrella, Pastor, Pau, Hernández, Isabel, Esteban-Pérez, Jesús, Suárez-Calvet, Marc, Antón-Aguirre, Sofía, Amer, Guillermo, Ortega-Cubero, Sara, Blesa, Rafael, Fortea, Juan, Alcolea, Daniel, Capdevila, Aura, Antonell, Anna, Lladó, Albert, Muñoz-Blanco, José Luís, Mora, Jesús S, Galán-Dávila, Lucía, Rodríguez De Rivera, Francisco Javier, Lleó, Alberto, Clarimón, Jordi

“…Hexanucleotide repeat expansions within the C9orf72 gene are the most important genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal…”
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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis by Kenna, Kevin P, van Doormaal, Perry T C, Dekker, Annelot M, Ticozzi, Nicola, Kenna, Brendan J, Diekstra, Frank P, van Rheenen, Wouter, van Eijk, Kristel R, Jones, Ashley R, Keagle, Pamela, Shatunov, Aleksey, Sproviero, William, Smith, Bradley N, van Es, Michael A, Topp, Simon D, Kenna, Aoife, Miller, Jack W, Fallini, Claudia, Tiloca, Cinzia, McLaughlin, Russell L, Vance, Caroline, Troakes, Claire, Colombrita, Claudia, Mora, Gabriele, Calvo, Andrea, Verde, Federico, Al-Sarraj, Safa, King, Andrew, Calini, Daniela, de Belleroche, Jacqueline, Baas, Frank, van der Kooi, Anneke J, de Visser, Marianne, ten Asbroek, Anneloor L M A, Sapp, Peter C, McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Muñoz-Blanco, José Luis, Strom, Tim M, Meitinger, Thomas, Morrison, Karen E, Lauria, Giuseppe, Williams, Kelly L, Leigh, P Nigel, Nicholson, Garth A, Blair, Ian P, Leblond, Claire S, Dion, Patrick A, Rouleau, Guy A, Pall, Hardev, Shaw, Pamela J, Turner, Martin R, Talbot, Kevin, Taroni, Franco, Boylan, Kevin B, Van Blitterswijk, Marka, Rademakers, Rosa, Esteban-Pérez, Jesús, García-Redondo, Alberto, Van Damme, Phillip, Robberecht, Wim, Chio, Adriano, Gellera, Cinzia, Drepper, Carsten, Sendtner, Michael, Ratti, Antonia, Glass, Jonathan D, Mora, Jesús S, Basak, Nazli A, Hardiman, Orla, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H, Brown, Robert H, Al-Chalabi, Ammar, Silani, Vincenzo, Shaw, Christopher E, van den Berg, Leonard H, Veldink, Jan H, Landers, John E

“…Jan Veldink and colleagues show that loss-of-function variants in NEK1 are associated with susceptibility to amyotrophic lateral sclerosis (ALS). In addition…”
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Upper trunk brachial plexopathy as a consequence of prone positioning due to SARS‐CoV‐2 acute respiratory distress syndrome by Sánchez‐Soblechero, Antonio, García, Cristina Ausín, Sáez Ansotegui, Aiala, Fernández‐Lorente, José, Catalina‐Álvarez, Irene, Grandas, Francisco, Muñoz‐Blanco, José Luis

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Changes in Retinal OCT and Their Correlations with Neurological Disability in Early ALS Patients, a Follow-Up Study by Rojas, Pilar, de Hoz, Rosa, Ramírez, Ana I, Ferreras, Antonio, Salobrar-Garcia, Elena, Muñoz-Blanco, José L, Urcelay-Segura, José L, Salazar, Juan J, Ramírez, José M

“…To compare early visual changes in amyotrophic lateral sclerosis (ALS) patients with healthy controls in a baseline exploration, to follow-up the patients…”
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Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide by García-Redondo, Alberto, Dols-Icardo, Oriol, Rojas-García, Ricard, Esteban-Pérez, Jesús, Cordero-Vázquez, Pilar, Muñoz-Blanco, José Luis, Catalina, Irene, González-Muñoz, Miguel, Varona, Luis, Sarasola, Esther, Povedano, Monica, Sevilla, Teresa, Guerrero, Antonio, Pardo, Julio, de Munain, Adolfo López, Márquez-Infante, Celedonio, de Rivera, Francisco Javier Rodríguez, Pastor, Pau, Jericó, Ivonne, de Arcaya, Amaya Álvarez, Mora, Jesús S., Clarimón, Jordi, Gonzalo-Martínez, Juan Francisco, Juárez-Rufián, Alexandra, Atencia, Gabriela, Jiménez-Bautista, Rosario, Morán, Yolanda, Mascías, Javier, Hernández-Barral, María, Kapetanovic, Solange, García-Barcina, María, Alcalá, Carmen, Vela, Álvaro, Ramírez-Ramos, Concepción, Galán, Lucía, Pérez-Tur, Jordi, Quintáns, Beatriz, Sobrido, M Jesús, Fernández-Torrón, Roberto, Poza, Juan José, Gorostidi, Ana, Paradas, Carmen, Villoslada, Pablo, Larrodé, Pilar, Capablo, José Luis, Pascual-Calvet, Jordi, Goñi, Miguel, Morgado, Yolanda, Guitart, Miriam, Moreno-Laguna, Sira, Rueda, Almudena, Martín-Estefanía, Carlos, Cemillán, Carlos, Blesa, Rafael, Lleó, Alberto

“…ABSTRACT A hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (C9orf72) can cause amyotrophic lateral sclerosis (ALS) and/or frontotemporal…”
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