Clinical utility gene card for McArdle disease

著者: Taylor, Rhonda L., Davis, Mark, Turner, Emma, Brull, Astrid, Pinos, Tomás, Cabrera, Macarena, Nowak, Kristen J.
出版年 Eur J Hum Genet (2018)

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

著者: Pinós, Tomàs, Barbosa-Desongles, Anna, Hurtado, Antoni, Santamaria-Martínez, Albert, de Torres, Inés, Reventós, Jaume, Munell, Francina
出版事項 2010

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

著者: Pinós, Tomàs, Barbosa-Desongles, Anna, Hurtado, Antoni, Santamaria-Martínez, Albert, de Torres, Inés, Morote, Joan, Reventós, Jaume, Munell, Francina
出版事項 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...

著者: de Luna, Noemí, Brull, Astrid, Guiu, Josep Maria, Lucia, Alejandro, Martin, Miguel Angel, Arenas, Joaquin, Martí, Ramon, Andreu, Antoni L., Pinós, Tomàs
出版年 Dis Model Mech (2015)

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

著者: Brull, Astrid, de Luna, Noemí, Blanco-Grau, Albert, Lucia, Alejandro, Martin, Miguel Angel, Arenas, Joaquin, Martí, Ramon, Andreu, Antoni L, Pinós, Tomàs
出版年 J Physiol (2015)

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

著者: 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
出版年 Biol Open (2014)

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

著者: 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
出版年 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

著者: 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
出版年 Cell Oncol (2008)

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

著者: 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
出版事項 2013

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

著者: 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
出版年 Int J Mol Sci (2020)

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

著者: 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
出版年 Sci Rep (2019)

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

著者: 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
出版事項 2011

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

著者: 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
出版年 Dis Model Mech (2020)

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

著者: 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
出版事項 2013

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

著者: 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
出版年 J Physiol (2018)

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

著者: 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
出版年 Orphanet J Rare Dis (2020)

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

著者: 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
出版年 BMC Genomics (2017)

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

著者: 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
出版年 Orphanet J Rare Dis (2020)