Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Tomàs Pinós"'
Autor:
Walaa Karazi, Renata S. Scalco, Mads G. Stemmerik, Nicoline Løkken, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebecca Trost, Sabrina Sacconi, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L. Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing, Nicol C. Voermans, EUROMAC Consortium
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background The European registry for individuals with GSD5 and other muscle glycogenosis (EUROMAC) was launched to register rare muscle glycogenosis in Europe, to facilitate recruitment for research trials and to learn about the phenotypes a
Externí odkaz:
https://doaj.org/article/36d94750141a4f249b7874ba6c6e46e8
Autor:
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background International patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these diseases, and help to le
Externí odkaz:
https://doaj.org/article/4fb930dc3b684799bae389fdc920b237
Autor:
Eduardo Salazar-Martínez, Alfredo Santalla, Pedro L. Valenzuela, Gisela Nogales-Gadea, Tomàs Pinós, María Morán, Alejandro Santos-Lozano, Carmen Fiuza-Luces, Alejandro Lucia
Publikováno v:
Frontiers in Physiology, Vol 12 (2021)
Background: The “second wind” (SW) phenomenon—commonly referring to both an initial period of marked intolerance to dynamic exercise (e.g., brisk walking) that is not followed by perceived improvement and disappearance of previous tachycardia (
Externí odkaz:
https://doaj.org/article/916e603d124a47a9a41560072c24ab0d
Autor:
Inés García-Consuegra, Sara Asensio-Peña, Rocío Garrido-Moraga, Tomàs Pinós, Cristina Domínguez-González, Alfredo Santalla, Gisela Nogales-Gadea, Pablo Serrano-Lorenzo, Antoni L. Andreu, Joaquín Arenas, José L. Zugaza, Alejandro Lucia, Miguel A. Martín
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 9, p 4650 (2022)
Glycogen storage disease type V (GSDV, McArdle disease) is a rare genetic myopathy caused by deficiency of the muscle isoform of glycogen phosphorylase (PYGM). This results in a block in the use of muscle glycogen as an energetic substrate, with subs
Externí odkaz:
https://doaj.org/article/916d20a9954f45819655f82f96f89e0a
Publikováno v:
Biomedicines, Vol 10, Iss 2, p 304 (2022)
Muscular dystrophies constitute a broad group of genetic disorders leading to muscle wasting. We have previously demonstrated that treating a muscular atrophy mouse model with growth factors resulted in increased muscle mass. In the present study, we
Externí odkaz:
https://doaj.org/article/d241c62871344fea952fa012983a99f4
Autor:
Mónica Villarreal-Salazar, Astrid Brull, Gisela Nogales-Gadea, Antoni L. Andreu, Miguel A. Martín, Joaquín Arenas, Alfredo Santalla, Alejandro Lucia, John Vissing, Thomas O. Krag, Tomàs Pinós
Publikováno v:
Genes, Vol 13, Iss 1, p 74 (2021)
McArdle disease is an autosomal recessive disorder of muscle glycogen metabolism caused by pathogenic mutations in the PYGM gene, which encodes the skeletal muscle-specific isoform of glycogen phosphorylase. Clinical symptoms are mainly characterized
Externí odkaz:
https://doaj.org/article/d2e6426642f5404c889b001d3cca2021
Autor:
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
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 1 (2020)
McArdle disease is an autosomal recessive disorder caused by the absence of muscle glycogen phosphorylase, which leads to blocked muscle glycogen breakdown. We used three different cellular models to evaluate the efficiency of different read-through
Externí odkaz:
https://doaj.org/article/f397524be8474485b1b42dbed725eb26
Autor:
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
Publikováno v:
BMC Genomics, Vol 18, Iss S8, Pp 39-47 (2017)
Abstract Background We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of January 2011 (n = 239, prevalence of ~1/167,000) (J Neurol Neurosurg Psychiatry 2012;83:322–8). Several caveats w
Externí odkaz:
https://doaj.org/article/59b83f2c1ec94ef6ac54173fb34c8252
Autor:
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
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 24, p 9621 (2020)
GSD are a group of disorders characterized by a defect in gene expression of specific enzymes involved in glycogen breakdown or synthesis, commonly resulting in the accumulation of glycogen in various tissues (primarily the liver and skeletal muscle)
Externí odkaz:
https://doaj.org/article/4db7fa41a09b413398ea8620cafd5749
Autor:
Noemí de Luna, Astrid Brull, Josep Maria Guiu, Alejandro Lucia, Miguel Angel Martin, Joaquin Arenas, Ramon Martí, Antoni L. Andreu, Tomàs Pinós
Publikováno v:
Disease Models & Mechanisms, Vol 8, Iss 5, Pp 467-472 (2015)
McArdle disease, also termed ‘glycogen storage disease type V’, is a disorder of skeletal muscle carbohydrate metabolism caused by inherited deficiency of the muscle-specific isoform of glycogen phosphorylase (GP-MM). It is an autosomic recessive
Externí odkaz:
https://doaj.org/article/25556bc966214bc1b4172e67ed73f5e2