Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Cristina Domínguez‐González"'
Autor:
Patricia Piñol-Jurado, José Verdú-Díaz, Esther Fernández-Simón, Cristina Domínguez-González, Aurelio Hernández-Lain, Conor Lawless, Amy Vincent, Alejandro González-Chamorro, Elisa Villalobos, Alexandra Monceau, Zoe Laidler, Priyanka Mehra, James Clark, Andrew Filby, David McDonald, Paul Rushton, Andrew Bowey, Jorge Alonso Pérez, Giorgio Tasca, Chiara Marini-Bettolo, Michela Guglieri, Volker Straub, Xavier Suárez-Calvet, Jordi Díaz-Manera
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Becker muscular dystrophy (BMD) is characterised by fiber loss and expansion of fibrotic and adipose tissue. Several cells interact locally in what is known as the degenerative niche. We analysed muscle biopsies of controls and BMD patients
Externí odkaz:
https://doaj.org/article/61a0d77c3dfe43de98fb8cb832575a27
Autor:
Cristina Domínguez-González, Carmina Díaz-Marín, Raúl Juntas-Morales, Andrés Nascimiento-Osorio, Alberto Rivera-Gallego, Jordi Díaz-Manera
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)
Abstract Background Despite the availability of several clinical guidelines, not all health professionals use their recommendations to manage patients with Pompe disease, a rare genetic disorder involving high-impact therapy. Through several discussi
Externí odkaz:
https://doaj.org/article/1ffc0abf60b247ee9369406a29763251
Autor:
Cinta Lleixà, Lorena Martín-Aguilar, Elba Pascual-Goñi, Teresa Franco, Marta Caballero, Noemí de Luna, Eduard Gallardo, Xavier Suárez-Calvet, Laura Martínez-Martínez, Jordi Diaz-Manera, Ricard Rojas-García, Elena Cortés-Vicente, Joana Turón, Carlos Casasnovas, Christian Homedes, Gerardo Gutiérrez-Gutiérrez, María Concepción Jimeno-Montero, José Berciano, Maria José Sedano-Tous, Tania García-Sobrino, Julio Pardo-Fernández, Celedonio Márquez-Infante, Iñigo Rojas-Marcos, Ivonne Jericó-Pascual, Eugenia Martínez-Hernández, Germán Morís de la Tassa, Cristina Domínguez-González, Cándido Juárez, Isabel Illa, Luis Querol
Publikováno v:
Journal of Neuroinflammation, Vol 18, Iss 1, Pp 1-13 (2021)
Abstract Background Guillain–Barré syndrome (GBS) is an acute inflammatory neuropathy with a heterogeneous presentation. Although some evidences support the role of autoantibodies in its pathogenesis, the target antigens remain unknown in a substa
Externí odkaz:
https://doaj.org/article/4683d496544444ce8ced3a1c5a156d32
Autor:
Cristina Domínguez-González, Marcos Madruga-Garrido, Michio Hirano, Itxaso Martí, Miguel A. Martín, Francina Munell, Andrés Nascimento, Montse Olivé, Joanne Quan, M. Dolores Sardina, Ramon Martí, Carmen Paradas
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient diagnosis and prognosis, but patients with mitochondrial disease typically
Externí odkaz:
https://doaj.org/article/bfe4ecffca224605a27d21dd60389172
Autor:
Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz-Manera, Candela Caballero, Bosco Méndez-Ferrer, Ramon Martí, Elena García Arumi, María Carmen Badosa, Jesús Esteban, Cecilia Jimenez-Mallebrera, Alberto Blazquez Encinar, Joaquín Arenas, Michio Hirano, Miguel Ángel Martin, Carmen Paradas
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Abstract Background TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the ‘myopathic form’ of the mitochondria
Externí odkaz:
https://doaj.org/article/e7796e2f0d6c4768bedacd49fb603f21
Autor:
Carlos Pablo de Fuenmayor-Fernández de la Hoz, Germán Morís, Cecilia Jiménez-Mallebrera, Carmen Badosa, Aurelio Hernández-Laín, Alberto Blázquez Encinar, Miguel Ángel Martín, Cristina Domínguez-González
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100701- (2021)
A 29-year-old man developed, since the age of 18, exercise intolerance and exercise-induced rhabdomyolysis, with myoglobinuria. Muscle biopsy showed ragged-red fibers. Multiple mitochondrial DNA deletions were detected. The previously reported pathog
Externí odkaz:
https://doaj.org/article/308151b55d6946a8b2368ed25df40db0
Autor:
Cristina Domínguez-González, Ana Hernandez-Voth, Javier Sayas Catalan, Marta Corral Blanco, Alba Castaño Mendez, Miguel Angel Martin, Carlos De Fuenmayor Fernandez de la Hoz, Victoria Villena Garrido
Publikováno v:
BMJ Open Respiratory Research, Vol 7, Iss 1 (2020)
Background Recessive mutations in the thymidinekinase 2 (TK2) gene cause a rare mitochondrial myopathy, frequently with severe respiratory involvement. Deoxynucleoside therapy is currently under investigation.Research question What is the impact of n
Externí odkaz:
https://doaj.org/article/677e20e6aac9402e8b54e12b0cb15563
Autor:
Alberto García-Bartolomé, Ana Peñas, María Illescas, Verónica Bermejo, Sandra López-Calcerrada, Rafael Pérez-Pérez, Lorena Marín-Buera, Cristina Domínguez-González, Joaquín Arenas, Miguel A. Martín, Cristina Ugalde
Publikováno v:
Cells, Vol 9, Iss 9, p 1922 (2020)
Mitochondrial oxidative phosphorylation (OXPHOS) defects are the primary cause of inborn errors of energy metabolism. Despite considerable progress on their genetic basis, their global pathophysiological consequences remain undefined. Previous studie
Externí odkaz:
https://doaj.org/article/3625133fae8046d0a3d4acb71b41e3ba
Autor:
Alexander Sonne, Lorenzo Peverelli, Aurelio Hernandez-Lain, Cristina Domínguez-González, Jesper L. Andersen, Margherita Milone, Alan H. Beggs, Julien Ochala
Publikováno v:
American Journal of Physiology-Cell Physiology. 324:C769-C776
Congenital myopathies are a vast group of genetic muscle diseases. Among the causes are mutations in the MYH2 gene resulting in truncated type IIa myosin heavy chains (MyHCs). The precise cellular and molecular mechanisms by which these mutations ind
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4a8c8a5e7cbf47ad7f3ef4bb80c52f6d
https://doi.org/10.1152/ajpcell.00002.2023
https://doi.org/10.1152/ajpcell.00002.2023
Autor:
Alba Segarra-Casas, Cristina Domínguez-González, Aurelio Hernández-Laín, Maria Teresa Sanchez-Calvin, Ana Camacho, Eloy Rivas, Andrea Campo-Barasoain, Marcos Madruga, Carlos Ortez, Daniel Natera-de Benito, Andrés Nascimento, Anna Codina, Maria Jose Rodriguez, Pia Gallano, Lidia Gonzalez-Quereda
Publikováno v:
Journal of Medical Genetics. 60:615-619
BackgroundUp to 7% of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) remain genetically undiagnosed after routine genetic testing. These patients are thought to carry deep intronic variants, structural variants or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ac34b451d3486843c236f062d89a5c7
https://doi.org/10.1136/jmg-2022-108828
https://doi.org/10.1136/jmg-2022-108828