Impaired muscle morphology in a Drosophila model of myosin storage myopathy was supressed by overexpression of an E3 ubiquitin ligase

por Dahl-Halvarsson, Martin, Olive, Montse, Pokrzywa, Malgorzata, Norum, Michaela, Ejeskär, Katarina, Tajsharghi, Homa
Publicado 2020

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure()

por Pfeffer, Gerald, Sambuughin, Nyamkhishig, Olivé, Montse, Tyndel, Felix, Toro, Camilo, Goldfarb, Lev G., Chinnery, Patrick F.
Publicado 2014

Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis

por De Luna, Noemí, Suárez-Calvet, Xavier, Lleixà, Cinta, Diaz-Manera, Jordi, Olivé, Montse, Illa, Isabel, Gallardo, Eduard
Publicado 2017

Increased amyloid β-peptide uptake in skeletal muscle is induced by hyposialylation and may account for apoptosis in GNE myopathy

por Bosch-Morató, Mònica, Iriondo, Cinta, Guivernau, Biuse, Valls-Comamala, Victòria, Vidal, Noemí, Olivé, Montse, Querfurth, Henry, Muñoz, Francisco J.
Publicado 2016

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

por Toro, Camilo, Olivé, Montse, Dalakas, Marinos C, Sivakumar, Kumaraswami, Bilbao, Juan M, Tyndel, Felix, Vidal, Noemí, Farrero, Eva, Sambuughin, Nyamkhishig, Goldfarb, Lev G
Publicado 2013

Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study

por Sedghi, Maryam, Moslemi, Ali‐Reza, Olive, Montse, Etemadifar, Masoud, Ansari, Behnaz, Nasiri, Jafar, Emrahi, Leila, Mianesaz, Hamid‐Reza, Laing, Nigel G., Tajsharghi, Homa
Publicado 2019

Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

por Domínguez-González, Cristina, Madruga-Garrido, Marcos, Hirano, Michio, Martí, Itxaso, Martín, Miguel A., Munell, Francina, Nascimento, Andrés, Olivé, Montse, Quan, Joanne, Sardina, M. Dolores, Martí, Ramon, Paradas, Carmen
Publicado 2021

Mutation update for the ACTN2 gene

por 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
Publicado 2022

Nintedanib Reduces Muscle Fibrosis and Improves Muscle Function of the Alpha-Sarcoglycan-Deficient Mice

por Alonso-Pérez, Jorge, Carrasco-Rozas, Ana, Borrell-Pages, Maria, Fernández-Simón, Esther, Piñol-Jurado, Patricia, Badimon, Lina, Wollin, Lutz, Lleixà, Cinta, Gallardo, Eduard, Olivé, Montse, Díaz-Manera, Jordi, Suárez-Calvet, Xavier
Publicado 2022

Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability

por Rodríguez, M. A., Del Rio Barquero, Luís M., Ortez, Carlos I., Jou, Cristina, Vigo, Meritxell, Medina, Julita, Febrer, Anna, Ramon-Krauel, Marta, Diaz-Manera, Jorge, Olive, Montse, González-Mera, Laura, Nascimento, Andres, Jimenez-Mallebrera, Cecilia
Publicado 2017

Immune Response and Safety of SARS-CoV-2 mRNA-1273 Vaccine in Patients With Myasthenia Gravis

por Reyes-Leiva, David, López-Contreras, Joaquín, Moga, Esther, Pla-Juncà, Francesc, Lynton-Pons, Elionor, Rojas-Garcia, Ricardo, Turon-Sans, Janina, Querol, Luis, Olive, Montse, Álvarez-Velasco, Rodrigo, Caballero-Ávila, Marta, Carbayo, Álvaro, Vesperinas-Castro, Ana, Domingo, Pere, Illa, Isabel, Gallardo, Eduard, Cortés-Vicente, Elena
Publicado 2022

Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis

por 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
Publicado 2022

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

por Juan-Mateu, Jonàs, Rodríguez, Maria José, Nascimento, Andrés, Jiménez-Mallebrera, Cecilia, González-Quereda, Lidia, Rivas, Eloy, Paradas, Carmen, Madruga, Marcos, Sánchez-Ayaso, Pedro, Jou, Cristina, González-Mera, Laura, Munell, Francina, Roig-Quilis, Manuel, Rabasa, Maria, Hernández-Lain, Aurelio, Díaz-Manera, Jorge, Gallardo, Eduard, Pascual, Jordi, Verdura, Edgard, Colomer, Jaume, Baiget, Montserrat, Olivé, Montse, Gallano, Pia
Publicado 2012

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

por Gonzalez-Quereda, Lidia, Rodriguez, Maria Jose, Diaz-Manera, Jordi, Alonso-Perez, Jorge, Gallardo, Eduard, Nascimento, Andres, Ortez, Carlos, Natera-de Benito, Daniel, Olive, Montse, Gonzalez-Mera, Laura, Lopez de Munain, Adolfo, Zulaica, Miren, Poza, Juan Jose, Jerico, Ivonne, Torne, Laura, Riera, Pau, Milisenda, Jose, Sanchez, Aurora, Garrabou, Gloria, Llano, Isabel, Madruga-Garrido, Marcos, Gallano, Pia
Publicado 2020

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

por Domínguez-González, Cristina, Hernández-Laín, Aurelio, Rivas, Eloy, Hernández-Voth, Ana, Sayas Catalán, Javier, Fernández-Torrón, Roberto, Fuiza-Luces, Carmen, García García, Jorge, Morís, Germán, Olivé, Montse, Miralles, Frances, Díaz-Manera, Jordi, Caballero, Candela, Méndez-Ferrer, Bosco, Martí, Ramon, García Arumi, Elena, Badosa, María Carmen, Esteban, Jesús, Jimenez-Mallebrera, Cecilia, Encinar, Alberto Blazquez, Arenas, Joaquín, Hirano, Michio, Martin, Miguel Ángel, Paradas, Carmen
Publicado 2019

Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy

por Salazar-Mendiguchía, Joel, Ochoa, Juan Pablo, Palomino-Doza, Julian, Domínguez, Fernando, Díez-López, Carles, Akhtar, Mohammed, Ramiro-León, Soraya, Clemente, María M, Pérez-Cejas, Antonia, Robledo, María, Gómez-Díaz, Iria, Peña-Peña, María Luisa, Climent, Vicente, Salmerón-Martínez, Francisco, Hernández, Celestino, García-Granja, Pablo E, Mogollón, M Victoria, Cárdenas-Reyes, Ivonne, Cicerchia, Marcos, García-Giustiniani, Diego, Lamounier Jr., Arsonval, Gil-Fournier, Belén, Díaz-Flores, Felícitas, Salguero, Rafael, Santomé, Luis, Syrris, Petros, Olivé, Montse, García-Pavía, Pablo, Ortiz-Genga, Martín, Elliott, Perry M., Monserrat, Lorenzo
Publicado 2020

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

por Olivé, Montse, Engvall, Martin, Ravenscroft, Gianina, Cabrera-Serrano, Macarena, Jiao, Hong, Bortolotti, Carlo Augusto, Pignataro, Marcello, Lambrughi, Matteo, Jiang, Haibo, Forrest, Alistair R. R., Benseny-Cases, Núria, Hofbauer, Stefan, Obinger, Christian, Battistuzzi, Gianantonio, Bellei, Marzia, Borsari, Marco, Di Rocco, Giulia, Viola, Helena M., Hool, Livia C., Cladera, Josep, Lagerstedt-Robinson, Kristina, Xiang, Fengqing, Wredenberg, Anna, Miralles, Francesc, Baiges, Juan José, Malfatti, Edoardo, Romero, Norma B., Streichenberger, Nathalie, Vial, Christophe, Claeys, Kristl G., Straathof, Chiara S. M., Goris, An, Freyer, Christoph, Lammens, Martin, Bassez, Guillaume, Kere, Juha, Clemente, Paula, Sejersen, Thomas, Udd, Bjarne, Vidal, Noemí, Ferrer, Isidre, Edström, Lars, Wedell, Anna, Laing, Nigel G.
Publicado 2019

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

por Esteller, Diana, Schiava, Marianela, Villar-Quiles, Rocío-Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Pérez, Jorge, Olive, Montse, Domínguez-González, Cristina, Paradas, Carmen, Vélez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl, Pál, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jiménez, Alicia, de Ridder, Willem, De Smet, Eline, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sofia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J., Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne, Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schöser, Benedikt, Fernández-Torrón, Roberto, López de Munain, Adolfo, Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Mathias, Manousakis, Georgious, Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra, Cetin, Hakan, Badrising, Umesh, Warman-Chardon, Jodi, Bevilacqua, Jorge, Earle, Nicholas, Campero, Mario, Díaz, Jorge, Ikenaga, Chiseko, Lloyd, Thomas E., Nishino, Ichizo, Nishimori, Yukako, Saito, Yoshihiko, Oya, Yasushi, Takahashi, Yoshiaki, Nishikawa, Atsuko, Sasaki, Ryo, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Stojkovic, Tanya, Carlier, Robert Y., Díaz-Manera, Jordi
Publicado 2023