Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

by Emiliano González-Vioque, Javier Torres-Torronteras, Antoni L Andreu, Ramon Martí
Published 2011-03-01

Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vit...

by Noemí de Luna, Astrid Brull, Josep Maria Guiu, Alejandro Lucia, Miguel Angel Martin, Joaquin Arenas, Ramon Martí, Antoni L. Andreu, Tomàs Pinós
Published 2015-05-01

Clinical characteristics of COVID-19 in older adults. A retrospective study in long-term nursing homes in Catalonia.

by Uxío Meis-Pinheiro, Francesc Lopez-Segui, Sandra Walsh, Anton Ussi, Sebastia Santaeugenia, Jose Augusto Garcia-Navarro, Antonio San-Jose, Antoni L Andreu, Magda Campins, Benito Almirante
Published 2021-01-01

Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation.

by Gisela Nogales-Gadea, Emma Mormeneo, Inés García-Consuegra, Juan C Rubio, Anna Orozco, Joaquin Arenas, Miguel A Martín, Alejandro Lucia, Anna M Gómez-Foix, Ramon Martí, Antoni L Andreu
Published 2010-01-01

Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

by Aitana Almodóvar-Payá, Mónica Villarreal-Salazar, Noemí de Luna, Gisela Nogales-Gadea, Alberto Real-Martínez, Antoni L. Andreu, Miguel Angel Martín, Joaquin Arenas, Alejandro Lucia, John Vissing, Thomas Krag, Tomàs Pinós
Published 2020-12-01

A transcriptomic approach to search for novel phenotypic regulators in McArdle disease.

by Gisela Nogales-Gadea, Inés Consuegra-García, Juan C Rubio, Joaquin Arenas, Marc Cuadros, Yolanda Camara, Javier Torres-Torronteras, Carmen Fiuza-Luces, Alejandro Lucia, Miguel A Martín, Elena García-Arumí, Antoni L Andreu
Published 2012-01-01

Absence of p.R50X Pygm read-through in McArdle disease cellular models

by Guillermo Tarrasó, Alberto Real-Martinez, Marta Parés, Lídia Romero-Cortadellas, Laura Puigros, Laura Moya, Noemí de Luna, Astrid Brull, Miguel Angel Martín, Joaquin Arenas, Alejandro Lucia, Antoni L. Andreu, Jordi Barquinero, John Vissing, Thomas O. Krag, Tomàs Pinós
Published 2020-01-01

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

by Tomàs Pinós, Antoni L. Andreu, Claudio Bruno, Georgios M. Hadjigeorgiou, Ronald G. Haller, Pascal Laforêt, Alejandro Lucía, Miguel A. Martín, Andrea Martinuzzi, Carmen Navarro, Piraye Oflazer, Jean Pouget, Ros Quinlivan, Sabrina Sacconi, Renata S. Scalco, Antonio Toscano, John Vissing, Matthias Vorgerd, Andrew Wakelin, Ramon Martí, EUROMAC Consortium
Published 2020-10-01

Mitochondrial DAMPs induce endotoxin tolerance in human monocytes: an observation in patients with myocardial infarction.

by Irene Fernández-Ruiz, Francisco Arnalich, Carolina Cubillos-Zapata, Enrique Hernández-Jiménez, Raúl Moreno-González, Víctor Toledano, María Fernández-Velasco, Maria T Vallejo-Cremades, Laura Esteban-Burgos, Rebeca Pérez de Diego, Miguel A Llamas-Matias, Elena García-Arumi, Ramón Martí, Lisardo Boscá, Antoni L Andreu, José Luis López-Sendón, Eduardo López-Collazo
Published 2014-01-01

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update

by Alfredo Santalla, Gisela Nogales-Gadea, Alberto Blázquez Encinar, Irene Vieitez, Adrian González-Quintana, Pablo Serrano-Lorenzo, Inés García Consuegra, Sara Asensio, Alfonsina Ballester-Lopez, Guillem Pintos-Morell, Jaume Coll-Cantí, Helios Pareja-Galeano, Jorge Díez-Bermejo, Margarita Pérez, Antoni L. Andreu, Tomàs Pinós, Joaquín Arenas, Miguel A. Martín, Alejandro Lucia
Published 2017-11-01