Clinical utility gene card for McArdle disease

Por Taylor, Rhonda L., Davis, Mark, Turner, Emma, Brull, Astrid, Pinos, Tomás, Cabrera, Macarena, Nowak, Kristen J.
Publicado no Eur J Hum Genet (2018)

Human SHBG mRNA Translation Is Modulated by Alternative 5′-Non-Coding Exons 1A and 1B

Por Pinós, Tomàs, Barbosa-Desongles, Anna, Hurtado, Antoni, Santamaria-Martínez, Albert, de Torres, Inés, Reventós, Jaume, Munell, Francina
Publicado em 2010

Identification, characterization and expression of novel Sex Hormone Binding Globulin alternative first exons in the human prostate

Por Pinós, Tomàs, Barbosa-Desongles, Anna, Hurtado, Antoni, Santamaria-Martínez, Albert, de Torres, Inés, Morote, Joan, Reventós, Jaume, Munell, Francina
Publicado em 2009

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...

Por de Luna, Noemí, Brull, Astrid, Guiu, Josep Maria, Lucia, Alejandro, Martin, Miguel Angel, Arenas, Joaquin, Martí, Ramon, Andreu, Antoni L., Pinós, Tomàs
Publicado no Dis Model Mech (2015)

Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model

Por Brull, Astrid, de Luna, Noemí, Blanco-Grau, Albert, Lucia, Alejandro, Martin, Miguel Angel, Arenas, Joaquin, Martí, Ramon, Andreu, Antoni L, Pinós, Tomàs
Publicado no J Physiol (2015)

McArdle disease does not affect skeletal muscle fibre type profiles in humans

Por Kohn, Tertius Abraham, Noakes, Timothy David, Rae, Dale Elizabeth, Rubio, Juan Carlos, Santalla, Alfredo, Nogales-Gadea, Gisela, Pinós, Tomas, Martín, Miguel A., Arenas, Joaquin, Lucia, Alejandro
Publicado no Biol Open (2014)

Depletion of ATP Limits Membrane Excitability of Skeletal Muscle by Increasing Both ClC1-Open Probability and Membrane Conductance

Por Leermakers, Pieter Arnold, Dybdahl, Kamilla Løhde Tordrup, Husted, Kristian Søborg, Riisager, Anders, de Paoli, Frank Vincenzo, Pinós, Tomàs, Vissing, John, Krag, Thomas Oliver Brøgger, Pedersen, Thomas Holm
Publicado no Front Neurol (2020)

Estrogen Receptor Beta Displays Cell Cycle-Dependent Expression and Regulates the G1 Phase through a Non-Genomic Mechanism in Prostate Carcinoma Cells

Por Hurtado, Antoni, Pinós, Tomàs, Barbosa-Desongles, Anna, López-Avilés, Sandra, Barquinero, Jordi, Petriz, Jordi, Santamaria-Martínez, Albert, Morote, Joan, de Torres, Inés, Bellmunt, Joaquim, Reventós, Jaume, Munell, Francina
Publicado no Cell Oncol (2008)

Association of the K153R polymorphism in the myostatin gene and extreme longevity

Por 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
Publicado em 2013

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

Por Almodóvar-Payá, Aitana, Villarreal-Salazar, Mónica, de Luna, Noemí, Nogales-Gadea, Gisela, Real-Martínez, Alberto, Andreu, Antoni L., Martín, Miguel Angel, Arenas, Joaquin, Lucia, Alejandro, Vissing, John, Krag, Thomas, Pinós, Tomàs
Publicado no Int J Mol Sci (2020)

Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model

Por Real-Martinez, Alberto, Brull, Astrid, Huerta, Jordi, Tarrasó, Guillermo, Lucia, Alejandro, Martin, Miguel Angel, Arenas, Joaquin, Andreu, Antoni L., Nogales-Gadea, Gisela, Vissing, John, Krag, Thomas O., de Luna, Noemi, Pinós, Tomàs
Publicado no Sci Rep (2019)

Are mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohort

Por Pinós, Tomàs, Nogales-Gadea, Gisela, Ruiz, Jonatan R., Rodríguez-Romo, Gabriel, Santiago-Dorrego, Catalina, Fiuza-Luces, Carmen, Gómez-Gallego, Félix, Cano-Nieto, Amalia, Garatachea, Nuria, Morán, María, Angel Martín, Miguel, Arenas, Joaquín, Andreu, Antoni L., Lucia, Alejandro
Publicado em 2011

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

Por 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
Publicado no Dis Model Mech (2020)

The rs1333049 polymorphism on locus 9p21.3 and extreme longevity in Spanish and Japanese cohorts

Por 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
Publicado em 2013

Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics‐based analysis in the McArdle mouse model

Por Fiuza‐Luces, Carmen, Santos‐Lozano, Alejandro, Llavero, Francisco, Campo, Rocío, Nogales‐Gadea, Gisela, Díez‐Bermejo, Jorge, Baladrón, Carlos, González‐Murillo, África, Arenas, Joaquín, Martín, Miguel A., Andreu, Antoni L., Pinós, Tomàs, Gálvez, Beatriz G., López, Juan A., Vázquez, Jesús, Zugaza, José L., Lucia, Alejandro
Publicado no J Physiol (2018)

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

Por 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
Publicado no Orphanet J Rare Dis (2020)

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

Por 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
Publicado no BMC Genomics (2017)

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

Por Scalco, Renata S., Lucia, Alejandro, Santalla, Alfredo, Martinuzzi, Andrea, Vavla, Marinela, Reni, Gianluigi, Toscano, Antonio, Musumeci, Olimpia, Voermans, Nicol C., Kouwenberg, Carlyn V., Laforêt, Pascal, San-Millán, Beatriz, Vieitez, Irene, Siciliano, Gabriele, Kühnle, Enrico, Trost, Rebeca, Sacconi, Sabrina, Stemmerik, Mads G., Durmus, Hacer, Kierdaszuk, Biruta, Wakelin, Andrew, Andreu, Antoni L., Pinós, Tomàs, Marti, Ramon, Quinlivan, Ros, Vissing, John
Publicado no Orphanet J Rare Dis (2020)