Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Délia Yubero"'
Autor:
Héctor Perandones‐González, Lluis Rusiñol‐Batlle, David Bosquez, Lluis Brunet‐Llobet, Marta Ivars, Délia Yubero, Ofer Sarig, Liron Malki, Alon Peled, Eli Sprecher, Eulalia Baselga
Publikováno v:
Pediatric Dermatology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::73b6240738230b2148a27864afa04f7c
https://doi.org/10.1111/pde.15309
https://doi.org/10.1111/pde.15309
Autor:
Beatriz Minguez, Mariela de Los Santos, Camila Garcia-Volpe, Cristina Molera, Abraham J. Paredes-Fuentes, Clara Oliva, Angela Arias, Helena Rodriguez-Gonzalez, Delia Yubero, Mireia Tondo, Carlos Santos-Ocaña, Silvia Meavilla, Rafael Artuch
Publikováno v:
Antioxidants, Vol 13, Iss 8, p 966 (2024)
Coenzyme Q10 (CoQ) is a ubiquitous lipid with different biological functions. In blood, there is a close relationship between CoQ status and cholesterol, which strongly supports the study of both molecules simultaneously. The objective of this study
Externí odkaz:
https://doaj.org/article/8b868ec7b67e4dc5a1dc96c127b67f01
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 13, p 7176 (2022)
There are challenges in the genetic diagnosis of rare diseases, and pursuing an optimal strategy to identify the cause of the disease is one of the main objectives of any clinical genomics unit. A range of techniques are currently used to characteriz
Externí odkaz:
https://doaj.org/article/8a39e0ffd31e4d4aaf4c677237161f35
Autor:
Sonia Emperador, Nuria Garrido-Pérez, Javier Amezcua-Gil, Paula Gaudó, Julio Alberto Andrés-Sanz, Delia Yubero, Ana Fernández-Marmiesse, Maria M. O’Callaghan, Juan D. Ortigoza-Escobar, Marti Iriondo, Eduardo Ruiz-Pesini, Angels García-Cazorla, Mercedes Gil-Campos, Rafael Artuch, Julio Montoya, María Pilar Bayona-Bafaluy
Publikováno v:
Frontiers in Genetics, Vol 10 (2020)
Encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome 13 (MTDPS13) is a rare genetic disorder caused by defects in F-box leucine-rich repeat protein 4 (FBXL4). Although FBXL4 is essential for the bioenergetic homeostasis of the cell, the pr
Externí odkaz:
https://doaj.org/article/3d23431fa04641679dcfda334d4bd917
Autor:
Dèlia Yubero, Daniel Natera-de Benito, Jordi Pijuan, Judith Armstrong, Loreto Martorell, Guerau Fernàndez, Joan Maynou, Cristina Jou, Mònica Roldan, Carlos Ortez, Andrés Nascimento, Janet Hoenicka, Francesc Palau
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 8, p 4274 (2021)
The diagnosis of neuromuscular diseases (NMDs) has been progressively evolving from the grouping of clinical symptoms and signs towards the molecular definition. Optimal clinical, biochemical, electrophysiological, electrophysiological, and histopath
Externí odkaz:
https://doaj.org/article/ba8499c4c8f84601b4f8958055d6ef46
Autor:
Viruna Neergheen MSc, Annapurna Chalasani MSc, Luke Wainwright MSci, MRes, Delia Yubero PhD, Raquel Montero PhD, Rafael Artuch MD, PhD, Iain Hargreaves PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017)
Currently, there is a paucity of available treatment strategies for oxidative phosphorylation disorders. Coenzyme Q 10 (CoQ 10 ) and related synthetic quinones are the only agents to date that have proven to be beneficial in the treatment of these he
Externí odkaz:
https://doaj.org/article/8bcdc08130f642f192ba0032932da67d
Autor:
Raquel Montero, Delia Yubero, Joan Villarroya, Desiree Henares, Cristina Jou, Maria Angeles Rodríguez, Federico Ramos, Andrés Nascimento, Carlos Ignacio Ortez, Jaume Campistol, Belen Perez-Dueñas, Mar O'Callaghan, Mercedes Pineda, Angeles Garcia-Cazorla, Jaume Colomer Oferil, Julio Montoya, Eduardo Ruiz-Pesini, Sonia Emperador, Marija Meznaric, Laura Campderros, Susana G Kalko, Francesc Villarroya, Rafael Artuch, Cecilia Jimenez-Mallebrera
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0148709 (2016)
BACKGROUND:We previously described increased levels of growth and differentiation factor 15 (GDF-15) in skeletal muscle and serum of patients with mitochondrial diseases. Here we evaluated GDF-15 as a biomarker for mitochondrial diseases affecting ch
Externí odkaz:
https://doaj.org/article/30b50934a31046c69010ef0f87d1343d
Autor:
Dèlia Yubero, Núria Brandi, Aida Ormazabal, Àngels Garcia-Cazorla, Belén Pérez-Dueñas, Jaime Campistol, Antonia Ribes, Francesc Palau, Rafael Artuch, Judith Armstrong, Working Group
Publikováno v:
PLoS ONE, Vol 11, Iss 5, p e0156359 (2016)
Next-generation sequencing (NGS) technology has allowed the promotion of genetic diagnosis and are becoming increasingly inexpensive and faster. To evaluate the utility of NGS in the clinical field, a targeted genetic panel approach was designed for
Externí odkaz:
https://doaj.org/article/5c1a46fdcc78496db7ff723af9043709
Autor:
Linda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, Delia Yubero, Maria Julieta González, Aida Ormazábal, Carme Fons, Cristina Jou, Cristina Sierra, Esperanza Castejon Ponce, Federico Ramos, Judith Armstrong, M. Mar O’Callaghan, Mercedes Casado, Raquel Montero, Silvia Meavilla-Olivas, Rafael Artuch, Ivo Barić, Franco Bartoloni, Cinzia Maria Bellettato, Fedele Bonifazi, Adriana Ceci, Ljerka Cvitanović-Šojat, Christine I. Dali, Francesca D’Avanzo, Ksenija Fumic, Viviana Giannuzzi, Christina Lampe, Maurizio Scarpa, Ángels Garcia-Cazorla
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 11, Iss 1, Pp 1-1 (2016)
Externí odkaz:
https://doaj.org/article/cc46ff4f646f442f80eb8b367524959e