Search Results - "León Hernández, Juan Carlos"

Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands by Alonso‐Pérez, Jorge, de León Hernández, Juan Carlos, Pérez‐Pérez, Helena, Mendoza‐Grimón, María Dolores, Gutierrez‐Martinez, Antonio José, Hadjigeorgiou, Ioanna, Montón‐Álvarez, Fernando, González‐Quereda, Lidia, Alonso‐Jimenez, Alicia, Suárez‐Calvet, Xavier, Díaz‐Manera, Jordi

“…Background Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late‐onset myopathy characterized by ptosis, dysphagia, and progressive proximal…”
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Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis by Domínguez-González, Cristina, Fernández-Torrón, Roberto, Moore, Ursula, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Vélez-Gómez, Beatriz, Cabezas, Juan Antonio, Alonso-Pérez, Jorge, González-Mera, Laura, Olivé, Montse, García-García, Jorge, Moris, Germán, León Hernández, Juan Carlos, Muelas, Nuria, Servian-Morilla, Emilia, Martin, Miguel A., Díaz-Manera, Jordi, Paradas, Carmen

“…Background and objective TK2 deficiency (TK2d) is a rare mitochondrial disorder that manifests predominantly as a progressive myopathy with a broad spectrum of…”
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Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study by Domínguez-González, Cristina, Hernández-Voth, Ana, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Guerrero, Laura Bermejo, Morís, Germán, García-García, Jorge, Muelas, Nuria, León Hernández, Juan Carlos, Rabasa, Maria, Lora, David, Blázquez, Alberto, Arenas, Joaquín, Martin, Miguel Ángel

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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy by Alonso-Pérez, Jorge, González-Quereda, Lidia, Bello, Luca, Guglieri, Michela, Straub, Volker, Gallano, Pia, Semplicini, Claudio, Pegoraro, Elena, Zangaro, Vittoria, Nascimento, Andrés, Ortez, Carlos, Comi, Giacomo Pietro, Dam, Leroy Ten, De Visser, Marianne, van der Kooi, A J, Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuß, Andrea, Løkken, Nicoline, Storgaard, Jesper Helbo, Vissing, John, Schoser, Benedikt, Dekomien, Gabriele, Udd, Bjarne, Palmio, Johanna, D'Amico, Adele, Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl G, Gomez-Andrés, David, Munell, Francina, Costa-Comellas, Laura, Haberlová, Jana, Rohlenová, Marie, Elke, De Vos, De Bleecker, Jan L, Dominguez-González, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicolas, Fernández-Torrón, Roberto, López de Munain, Adolfo, Camacho-Salas, Ana, Melegh, Béla, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernández, Juan Carlos, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, Díaz-Manera, Jordi

“…Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused,…”
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Identification of serum microRNAs as potential biomarkers in Pompe disease by Carrasco‐Rozas, Ana, Fernández‐Simón, Esther, Lleixà, Maria Cinta, Belmonte, Izaskun, Pedrosa-Hernandez, Irene, Montiel-Morillo, Elena, Nuñez‐Peralta, Claudia, Llauger Rossello, Jaume, Segovia, Sonia, De Luna, Noemí, Suarez‐Calvet, Xavier, Illa, Isabel, Díaz‐Manera, Jordi, Gallardo, Eduard, Barba‐Romero, Miguel Angel, Barcena, Joseba, Carzorla, María Rosario, Creus, Carlota, Coll‐Cantí, Jaume, Díaz, Manuel, Domínguez, Cristina, Torrón, Roberto Fernández, García Antelo, María José, Grau, Josep María, Gómez Caravaca, María Teresa, León Hernández, Juan Carlos, López de Munáin, Adolfo, Martínez‐García, Francisco Antonio, Morgado, Yolanda, Moreno, Antonio, Muñoz‐Blanco, Miguel Angel, Nascimento, Andres, Paradas, Carmen, Parajuá Pozo, José Luis, Querol, Luis, Robledo‐Strauss, Arturo, García, Ricard Rojas, Rojas‐Marcos, Íñigo, Salazar, Jose Antonio, Usón, Mercedes

“…Objective To analyze the microRNA profile in serum of patients with Adult Onset Pompe disease (AOPD). Methods We analyzed the expression of 185 microRNAs in…”
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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy patients by Alonso-Pérez, Jorge, Semplicini, Claudio, González-Quereda, Lidia, Guglieri, Michela, Straub, Volker, Gallano Petit, Pia, Pegoraro, Elena, Nascimento Osorio, Andrés, Ortez Gonzalez, Carlos Ignacio, Comi, Giacomo, de Visser, Marianne, van Der Kooi, A.J., Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuss, Andrea, Løkken, Nicoline, Vissing, John, Schoser, Benedikt, Udd, Bjarne, d'Amico, Adele, Politano, Luisa, Bruno, Claudio, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl, Gomez-Andrés, David, Munell, Francina, Haberlová, Jana, Elke, de Vos, de Bleecker, Jan, Dominguez-González, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicolas, Fernández-Torrón, Roberto, López de Munain Arregui, Adolfo, Camacho-Salas, Ana, Melegh, Béla, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernández, Juan Carlos, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, Díaz-Manera, Jordi

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PDGF-BB serum levels are decreased in adult onset Pompe patients by Fernández-Simón, Esther, Carrasco-Rozas, Ana, Gallardo, Eduard, Figueroa-Bonaparte, Sebastián, Belmonte, Izaskun, Pedrosa, Irene, Montiel, Elena, Suárez-Calvet, Xavier, Alonso-Pérez, Jorge, Segovia, Sonia, Nuñez-Peralta, Claudia, Llauger, Jaume, Mayos, Mercedes, Illa, Isabel, Díaz-Manera, Jordi

“…Adult onset Pompe disease is a genetic disorder characterized by slowly progressive skeletal and respiratory muscle weakness. Symptomatic patients are treated…”
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