Caveats and Pitfalls of SOX1 Autoantibody Testing With a Commercial Line Blot Assay in Paraneoplastic Neurological Investigations

by Raquel Ruiz-García, Eugenia Martínez-Hernández, Eugenia Martínez-Hernández, Milagros García-Ormaechea, Marta Español-Rego, Lidia Sabater, Luis Querol, Luis Querol, Isabel Illa, Isabel Illa, Isabel Illa, Josep Dalmau, Josep Dalmau, Josep Dalmau, Francesc Graus
Published 2019-04-01

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

by Noemí De Luna, Xavier Suárez-Calvet, Cinta Lleixà, Jordi Diaz-Manera, Montse Olivé, Isabel Illa, Eduard Gallardo
Published 2017-08-01

Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes

by Esther Fernández-Simón, Cinta Lleixà, Xavier Suarez-Calvet, Jordi Diaz-Manera, Isabel Illa, Eduard Gallardo, Noemí de Luna
Published 2020-11-01

Effect of monovalency on anti-contactin-1 IgG4

by Guillaume Taieb, Guillaume Taieb, Alexandre Jentzer, Alexandre Jentzer, Elisa Vegezzi, Cinta Lleixà, Isabel Illa, Luis Querol, Jérôme J. Devaux
Published 2023-03-01

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

by Eduard Gallardo, Noemi de Luna, Jordi Diaz-Manera, Ricardo Rojas-García, Lidia Gonzalez-Quereda, Bàrbara Flix, Antoine de Morrée, Silvère van der Maarel, Isabel Illa
Published 2011-01-01

Analysis of serum miRNA profiles of myasthenia gravis patients.

by Gisela Nogales-Gadea, Alba Ramos-Fransi, Xavier Suárez-Calvet, Miquel Navas, Ricard Rojas-García, Jose Luis Mosquera, Jordi Díaz-Manera, Luis Querol, Eduard Gallardo, Isabel Illa
Published 2014-01-01

Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.

by Sebastián Figueroa-Bonaparte, Sonia Segovia, Jaume Llauger, Izaskun Belmonte, Irene Pedrosa, Aída Alejaldre, Mercè Mayos, Guillermo Suárez-Cuartín, Eduard Gallardo, Isabel Illa, Jordi Díaz-Manera, Spanish Pompe Study Group
Published 2016-01-01

Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study

by Sebastian Figueroa-Bonaparte, Jaume Llauger, Sonia Segovia, Izaskun Belmonte, Irene Pedrosa, Elena Montiel, Paula Montesinos, Javier Sánchez-González, Alicia Alonso-Jiménez, Eduard Gallardo, Isabel Illa, Spanish Pompe group, Jordi Díaz-Manera
Published 2018-07-01

Follow‐up of late‐onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles

by Claudia Nuñez‐Peralta, Jorge Alonso‐Pérez, Jaume Llauger, Sonia Segovia, Paula Montesinos, Izaskun Belmonte, Irene Pedrosa, Elena Montiel, Alicia Alonso‐Jiménez, Javier Sánchez‐González, Antonio Martínez‐Noguera, Isabel Illa, Jordi Díaz‐Manera
Published 2020-08-01

Author Correction: Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy

by Elba Pascual-Goñi, Lorena Martín-Aguilar, Cinta Lleixà, Laura Martínez-Martínez, Manuel J. Simón-Talero, Jordi Díaz-Manera, Elena Cortés-Vicente, Ricard Rojas-García, Esther Moga, Cándido Juárez, Isabel Illa, Luis Querol
Published 2021-02-01

RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis

by Xavier Suárez-Calvet, Eduard Gallardo, Iago Pinal-Fernandez, Noemi De Luna, Cinta Lleixà, Jordi Díaz-Manera, Ricardo Rojas-García, Ivan Castellví, M. Angeles Martínez, Josep M. Grau, Albert Selva-O’Callaghan, Isabel Illa
Published 2017-07-01

Correction: Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy.

by Lena Duchateau, Lorena Martín-Aguilar, Cinta Lleixà, Andrea Cortese, Oriol Dols-Icardo, Laura Cervera-Carles, Elba Pascual-Goñi, Jordi Diaz-Manera, Ilaria Callegari, Diego Franciotta, Ricard Rojas-Garcia, Isabel Illa, Jordi Clarimon, Luis Querol
Published 2019-01-01

Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy.

by Lena Duchateau, Lorena Martín-Aguilar, Cinta Lleixà, Andrea Cortese, Oriol Dols-Icardo, Laura Cervera-Carles, Elba Pascual-Goñi, Jordi Diaz-Manera, Ilaria Calegari, Diego Franciotta, Ricard Rojas-Garcia, Isabel Illa, Jordi Clarimon, Luis Querol
Published 2019-01-01

Gene expression profiling in limb-girdle muscular dystrophy 2A.

by Amets Sáenz, Margarita Azpitarte, Rubén Armañanzas, France Leturcq, Ainhoa Alzualde, Iñaki Inza, Federico García-Bragado, Gaspar De la Herran, Julián Corcuera, Ana Cabello, Carmen Navarro, Carolina De la Torre, Eduard Gallardo, Isabel Illa, Adolfo López de Munain
Published 2008-01-01

Identification of serum microRNAs as potential biomarkers in Pompe disease

by Ana Carrasco‐Rozas, Esther Fernández‐Simón, Maria Cinta Lleixà, Izaskun Belmonte, Irene Pedrosa-Hernandez, Elena Montiel-Morillo, Claudia Nuñez‐Peralta, Jaume Llauger Rossello, Sonia Segovia, Noemí De Luna, Xavier Suarez‐Calvet, Isabel Illa, Pompe Spanish Study group, Jordi Díaz‐Manera, Eduard Gallardo
Published 2019-07-01

Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies

by Alicia Alonso-Jiménez, Alicia Alonso-Jiménez, Esther Fernández-Simón, Esther Fernández-Simón, Esther Fernández-Simón, Daniel Natera-de Benito, Carlos Ortez, Carme García, Elena Montiel, Izaskun Belmonte, Irene Pedrosa, Sonia Segovia, Sonia Segovia, Patricia Piñol-Jurado, Patricia Piñol-Jurado, Patricia Piñol-Jurado, Ana Carrasco-Rozas, Ana Carrasco-Rozas, Xavier Suárez-Calvet, Xavier Suárez-Calvet, Cecilia Jimenez-Mallebrera, Cecilia Jimenez-Mallebrera, Cecilia Jimenez-Mallebrera, Andrés Nascimento, Andrés Nascimento, Jaume Llauger, Claudia Nuñez-Peralta, Paula Montesinos, Jorge Alonso-Pérez, Jorge Alonso-Pérez, Eduard Gallardo, Eduard Gallardo, Isabel Illa, Isabel Illa, Jordi Díaz-Manera, Jordi Díaz-Manera, Jordi Díaz-Manera
Published 2021-06-01

Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15

by Laura Martinez-Martinez, Ma. Cinta Lleixà, Gemma Boera-Carnicero, Andrea Cortese, Jérôme Devaux, Ana Siles, Yusuf Rajabally, Alicia Martinez-Piñeiro, Alejandra Carvajal, Julio Pardo, Emilien Delmont, Shahram Attarian, Jordi Diaz-Manera, Ilaria Callegari, Enrico Marchioni, Diego Franciotta, Luana Benedetti, Guiseppe Lauria, Oscar de la Calle Martin, Cándido Juárez, Isabel Illa, Luis Querol
Published 2017-11-01

Drug‐refractory myasthenia gravis: Clinical characteristics, treatments, and outcome

by Elena Cortés‐Vicente, Rodrigo Álvarez‐Velasco, Francesc Pla‐Junca, Ricard Rojas‐Garcia, Carmen Paradas, Teresa Sevilla, Carlos Casasnovas, María Teresa Gómez‐Caravaca, Julio Pardo, Alba Ramos‐Fransi, Ana Lara Pelayo‐Negro, Gerardo Gutiérrez‐Gutiérrez, Janina Turon‐Sans, Adolfo López de Munain, Antonio Guerrero‐Sola, Ivonne Jericó, María Asunción Martín, María Dolores Mendoza, Germán Morís, Beatriz Vélez‐Gómez, Tania Garcia‐Sobrino, Elba Pascual‐Goñi, David Reyes‐Leiva, Isabel Illa, Eduard Gallardo
Published 2022-02-01

Autoantibody screening in Guillain–Barré syndrome

by Cinta Lleixà, Lorena Martín-Aguilar, Elba Pascual-Goñi, Teresa Franco, Marta Caballero, Noemí de Luna, Eduard Gallardo, Xavier Suárez-Calvet, Laura Martínez-Martínez, Jordi Diaz-Manera, Ricard Rojas-García, Elena Cortés-Vicente, Joana Turón, Carlos Casasnovas, Christian Homedes, Gerardo Gutiérrez-Gutiérrez, María Concepción Jimeno-Montero, José Berciano, Maria José Sedano-Tous, Tania García-Sobrino, Julio Pardo-Fernández, Celedonio Márquez-Infante, Iñigo Rojas-Marcos, Ivonne Jericó-Pascual, Eugenia Martínez-Hernández, Germán Morís de la Tassa, Cristina Domínguez-González, Cándido Juárez, Isabel Illa, Luis Querol
Published 2021-11-01

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

by Rafael Sivera, Marina Frasquet, Vincenzo Lupo, Tania García-Sobrino, Patricia Blanco-Arias, Julio Pardo, Roberto Fernández-Torrón, Adolfo López de Munain, Celedonio Márquez-Infante, Liliana Villarreal, Pilar Carbonell, Ricard Rojas-García, Sonia Segovia, Isabel Illa, Anna Lia Frongia, Andrés Nascimento, Carlos Ortez, María del Mar García-Romero, Samuel Ignacio Pascual, Ana Lara Pelayo-Negro, José Berciano, Antonio Guerrero, Carlos Casasnovas, Ana Camacho, Jesús Esteban, María José Chumillas, Marisa Barreiro, Carmen Díaz, Francesc Palau, Juan Jesús Vílchez, Carmen Espinós, Teresa Sevilla
Published 2017-07-01