Clinical characteristics of COVID-19 in older adults. A retrospective study in long-term nursing homes in Catalonia
Meis-Pinheiro, Uxío, Lopez-Segui, Francesc, Walsh, Sandra, Ussi, Anton, Santaeugenia, Sebastia, Garcia-Navarro, Jose Augusto, San-Jose, Antonio, Andreu, Antoni L, Campins, Magda, Almirante, Benito
Published in PloS one (23.07.2021)
Published in PloS one (23.07.2021)
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Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update
Santalla, Alfredo, Nogales-Gadea, Gisela, Encinar, Alberto Blázquez, Vieitez, Irene, González-Quintana, Adrian, Serrano-Lorenzo, Pablo, Consuegra, Inés García, Asensio, Sara, Ballester-Lopez, Alfonsina, Pintos-Morell, Guillem, Coll-Cantí, Jaume, Pareja-Galeano, Helios, Díez-Bermejo, Jorge, Pérez, Margarita, Andreu, Antoni L, Pinós, Tomàs, Arenas, Joaquín, Martín, Miguel A, Lucia, Alejandro
Published in BMC genomics (14.11.2017)
Published in BMC genomics (14.11.2017)
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Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation
Karazi, Walaa, Scalco, Renata S, Stemmerik, Mads G, Løkken, Nicoline, Lucia, Alejandro, Santalla, Alfredo, Martinuzzi, Andrea, Vavla, Marinela, Reni, Gianluigi, Toscano, Antonio, Musumeci, Olimpia, Kouwenberg, Carlyn V, Laforêt, Pascal, Millán, Beatriz San, Vieitez, Irene, Siciliano, Gabriele, Kühnle, Enrico, Trost, Rebecca, Sacconi, Sabrina, Durmus, Hacer, Kierdaszuk, Biruta, Wakelin, Andrew, Andreu, Antoni L, Pinós, Tomàs, Marti, Ramon, Quinlivan, Ros, Vissing, John, Voermans, Nicol C
Published in Orphanet journal of rare diseases (25.07.2023)
Published in Orphanet journal of rare diseases (25.07.2023)
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Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis
García-Consuegra, Inés, Asensio-Peña, Sara, Garrido-Moraga, Rocío, Pinós, Tomàs, Domínguez-González, Cristina, Santalla, Alfredo, Nogales-Gadea, Gisela, Serrano-Lorenzo, Pablo, Andreu, Antoni L, Arenas, Joaquín, Zugaza, José L, Lucia, Alejandro, Martín, Miguel A
Published in International journal of molecular sciences (22.04.2022)
Published in International journal of molecular sciences (22.04.2022)
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Personalized Precision Medicine for Health Care Professionals: Development of a Competency Framework
Martin-Sanchez, Fernando, Lázaro, Martín, López-Otín, Carlos, Andreu, Antoni L, Cigudosa, Juan Cruz, Garcia-Barbero, Milagros
Published in JMIR medical education (07.02.2023)
Published in JMIR medical education (07.02.2023)
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Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene
MELIA, Maria J, KUBOTA, Akatsuki, GARCIA-ARUMI, Elena, ANDREU, Antoni L, NAVARRO, Carmen, HIRANO, Michio, MARTI, Ramon, ORTOLANO, Saida, VILCHEZ, Juan J, GAMEZ, Josep, TANJ I, Kurenai, BONILLA, Eduardo, PALENZUELA, Lluís, FERNANDEZ-CADENAS, Israel, PRISTOUPILOVA, Anna
Published in Brain (London, England : 1878) (01.05.2013)
Published in Brain (London, England : 1878) (01.05.2013)
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Mitochondrial DAMPs induce endotoxin tolerance in human monocytes: an observation in patients with myocardial infarction
Fernández-Ruiz, Irene, Arnalich, Francisco, Cubillos-Zapata, Carolina, Hernández-Jiménez, Enrique, Moreno-González, Raúl, Toledano, Víctor, Fernández-Velasco, María, Vallejo-Cremades, Maria T, Esteban-Burgos, Laura, de Diego, Rebeca Pérez, Llamas-Matias, Miguel A, García-Arumi, Elena, Martí, Ramón, Boscá, Lisardo, Andreu, Antoni L, López-Sendón, José Luis, López-Collazo, Eduardo
Published in PloS one (05.05.2014)
Published in PloS one (05.05.2014)
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Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Pinós, Tomàs, Andreu, Antoni L, Bruno, Claudio, Hadjigeorgiou, Georgios M, Haller, Ronald G, Laforêt, Pascal, Lucía, Alejandro, Martín, Miguel A, Martinuzzi, Andrea, Navarro, Carmen, Oflazer, Piraye, Pouget, Jean, Quinlivan, Ros, Sacconi, Sabrina, Scalco, Renata S, Toscano, Antonio, Vissing, John, Vorgerd, Matthias, Wakelin, Andrew, Martí, Ramon
Published in Orphanet journal of rare diseases (15.10.2020)
Published in Orphanet journal of rare diseases (15.10.2020)
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Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy
Galino, Jorge, Ruiz, Montserrat, Fourcade, Stéphane, Schlüter, Agatha, López-Erauskin, Jone, Guilera, Cristina, Jove, Mariona, Naudi, Alba, García-Arumí, Elena, Andreu, Antoni L, Starkov, Anatoly A, Pamplona, Reinald, Ferrer, Isidre, Portero-Otin, Manuel, Pujol, Aurora
Published in Antioxidants & redox signaling (15.10.2011)
Published in Antioxidants & redox signaling (15.10.2011)
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Mitochondrial dysfunction and therapeutic approaches in respiratory and limb muscles of cancer cachectic mice
Fermoselle, Clara, García‐Arumí, Elena, Puig‐Vilanova, Ester, Andreu, Antoni L., Urtreger, Alejandro J., de Kier Joffé, Elisa D. Bal, Tejedor, Alberto, Puente‐Maestu, Luís, Barreiro, Esther
Published in Experimental physiology (01.09.2013)
Published in Experimental physiology (01.09.2013)
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Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies
Villarreal-Salazar, Mónica, Brull, Astrid, Nogales-Gadea, Gisela, Andreu, Antoni L, Martín, Miguel A, Arenas, Joaquín, Santalla, Alfredo, Lucia, Alejandro, Vissing, John, Krag, Thomas O, Pinós, Tomàs
Published in Genes (28.12.2021)
Published in Genes (28.12.2021)
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Absence of p.R50X Pygm read-through in McArdle disease cellular models
Tarrasó, Guillermo, Real-Martinez, Alberto, Parés, Marta, Romero-Cortadellas, Lídia, Puigros, Laura, Moya, Laura, de Luna, Noemí, Brull, Astrid, Martín, Miguel Angel, Arenas, Joaquin, Lucia, Alejandro, Andreu, Antoni L, Barquinero, Jordi, Vissing, John, Krag, Thomas O, Pinós, Tomàs
Published in Disease models & mechanisms (01.01.2020)
Published in Disease models & mechanisms (01.01.2020)
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A transcriptomic approach to search for novel phenotypic regulators in McArdle disease
Nogales-Gadea, Gisela, Consuegra-García, Inés, Rubio, Juan C, Arenas, Joaquin, Cuadros, Marc, Camara, Yolanda, Torres-Torronteras, Javier, Fiuza-Luces, Carmen, Lucia, Alejandro, Martín, Miguel A, García-Arumí, Elena, Andreu, Antoni L
Published in PloS one (09.02.2012)
Published in PloS one (09.02.2012)
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Novel role of ATPase subunit C targeting peptides beyond mitochondrial protein import
Vives-Bauza, Cristofol, Magrané, Jordi, Andreu, Antoni L, Manfredi, Giovanni
Published in Molecular biology of the cell (01.01.2010)
Published in Molecular biology of the cell (01.01.2010)
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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 vitro
de Luna, Noemí, Brull, Astrid, Guiu, Josep Maria, Lucia, Alejandro, Martin, Miguel Angel, Arenas, Joaquin, Martí, Ramon, Andreu, Antoni L, Pinós, Tomàs
Published in Disease models & mechanisms (01.05.2015)
Published in Disease models & mechanisms (01.05.2015)
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Association of the K153R polymorphism in the myostatin gene and extreme longevity
Garatachea, Nuria, Pinós, Tomàs, Cámara, Yolanda, Rodríguez-Romo, Gabriel, Emanuele, Enzo, Ricevuti, Giovanni, Venturini, Letizia, Santos-Lozano, Alejandro, Santiago-Dorrego, Catalina, Fiuza-Luces, Carmen, Yvert, Thomas, Andreu, Antoni L., Lucia, Alejandro
Published in AGE (01.12.2013)
Published in AGE (01.12.2013)
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Mitochondrial DNA abnormalities and autistic spectrum disorders
Pons, Roser, Andreu, Antoni L., Checcarelli, Nicoletta, Vilà, Maya R., Engelstad, Kristin, Sue, Carolyn M., Shungu, Dikoma, Haggerty, Rita, De Vivo, Darryl C., DiMauro, Salvatore
Published in The Journal of pediatrics (01.01.2004)
Published in The Journal of pediatrics (01.01.2004)
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Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation
Nogales-Gadea, Gisela, Mormeneo, Emma, García-Consuegra, Inés, Rubio, Juan C, Orozco, Anna, Arenas, Joaquin, Martín, Miguel A, Lucia, Alejandro, Gómez-Foix, Anna M, Martí, Ramon, Andreu, Antoni L
Published in PloS one (05.10.2010)
Published in PloS one (05.10.2010)
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The rs1333049 polymorphism on locus 9p21.3 and extreme longevity in Spanish and Japanese cohorts
Pinós, Tomàs, Fuku, Noriyuki, Cámara, Yolanda, Arai, Yasumichi, Abe, Yukiko, Rodríguez-Romo, Gabriel, Garatachea, Nuria, Santos-Lozano, Alejandro, Miro-Casas, Elisabet, Ruiz-Meana, Marisol, Otaegui, Imanol, Murakami, Haruka, Miyachi, Motohiko, Garcia-Dorado, David, Hinohara, Kunihiko, Andreu, Antoni L., Kimura, Akinori, Hirose, Nobuyoshi, Lucia, Alejandro
Published in AGE (01.04.2014)
Published in AGE (01.04.2014)
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