The Value of Coenzyme Q(10) Determination in Mitochondrial Patients

por Yubero, Delia, Allen, George, Artuch, Rafael, Montero, Raquel
Publicado 2017

Direct Urine Resistance Detection Using VITEK 2

por Torres-Sangiao, Eva, Lamas Rodriguez, Brais, Cea Pájaro, María, Carracedo Montero, Raquel, Parajó Pazos, Noelia, García-Riestra, Carlos
Publicado 2022

Technical Aspects of Coenzyme Q(10) Analysis: Validation of a New HPLC-ED Method

por Paredes-Fuentes, Abraham J., Oliva, Clara, Montero, Raquel, Alcaide, Patricia, Ruijter, George J. G., García-Villoria, Judit, Ruiz-Sala, Pedro, Artuch, Rafael
Publicado 2022

Coenzyme Q(10) Treatment Monitoring in Different Human Biological Samples

por Paredes-Fuentes, Abraham J., Montero, Raquel, Codina, Anna, Jou, Cristina, Fernández, Guerau, Maynou, Joan, Santos-Ocaña, Carlos, Riera, Joan, Navas, Plácido, Drobnic, Franchek, Artuch, Rafael
Publicado 2020

Association between coenzyme Q(10) and glucose transporter (GLUT1) deficiency

por Yubero, Delia, O’Callaghan, Mar, Montero, Raquel, Ormazabal, Aida, Armstrong, Judith, Espinos, Carmina, Rodríguez, Maria A, Jou, Cristina, Castejon, Esperanza, Aracil, Maria A, Cascajo, Maria V, Gavilan, Angela, Briones, Paz, Jimenez-Mallebrera, Cecilia, Pineda, Mercedes, Navas, Plácido, Artuch, Rafael
Publicado 2014

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

por Brito, Sara, Thompson, Kyle, Campistol, Jaume, Colomer, Jaime, Hardy, Steven A., He, Langping, Fernández-Marmiesse, Ana, Palacios, Lourdes, Jou, Cristina, Jiménez-Mallebrera, Cecilia, Armstrong, Judith, Montero, Raquel, Artuch, Rafael, Tischner, Christin, Wenz, Tina, McFarland, Robert, Taylor, Robert W.
Publicado 2015

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

por Brito, Sara, Thompson, Kyle, Campistol, Jaume, Colomer, Jaime, Hardy, Steven A., He, Langping, Fernández-Marmiesse, Ana, Palacios, Lourdes, Jou, Cristina, Jiménez-Mallebrera, Cecilia, Armstrong, Judith, Montero, Raquel, Artuch, Rafael, Tischner, Christin, Wenz, Tina, McFarland, Robert, Taylor, Robert W.
Publicado 2015

APOA1 oxidation is associated to dysfunctional high-density lipoproteins in human abdominal aortic aneurysm

por Martínez-López, Diego, Camafeita, Emilio, Cedó, Lídia, Roldan-Montero, Raquel, Jorge, Inmaculada, García-Marqués, Fernando, Gómez-Serrano, María, Bonzon-Kulichenko, Elena, Blanco-Vaca, Francisco, Blanco-Colio, Luis Miguel, Michel, Jean-Baptiste, Escola-Gil, Joan Carles, Vázquez, Jesús, Martin-Ventura, Jose Luis
Publicado 2019

Plasma coenzyme Q(10) status is impaired in selected genetic conditions

por Montero, Raquel, Yubero, Delia, Salgado, Maria C., González, María Julieta, Campistol, Jaume, O’Callaghan, Maria del Mar, Pineda, Mercè, Delgadillo, Verónica, Maynou, Joan, Fernandez, Guerau, Montoya, Julio, Ruiz-Pesini, Eduardo, Meavilla, Silvia, Neergheen, Viruna, García-Cazorla, Angels, Navas, Placido, Hargreaves, Iain, Artuch, Rafael
Publicado 2019

Galectin-1 prevents pathological vascular remodeling in atherosclerosis and abdominal aortic aneurysm

por Roldán-Montero, Raquel, Pérez-Sáez, Juan M., Cerro-Pardo, Isabel, Oller, Jorge, Martinez-Lopez, Diego, Nuñez, Estefania, Maller, Sebastian M., Gutierrez-Muñoz, Carmen, Mendez-Barbero, Nerea, Escola-Gil, Joan C., Michel, Jean-Baptiste, Mittelbrunn, Maria, Vázquez, Jesús, Blanco-Colio, Luis M., Rabinovich, Gabriel A., Martin-Ventura, Jose L.
Publicado 2022

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

por Quijada-Fraile, Pilar, O’Callaghan, Mar, Martín-Hernández, Elena, Montero, Raquel, Garcia-Cazorla, Àngels, de Aragón, Ana Martínez, Muchart, Jordi, Málaga, Ignacio, Pardo, Rafael, García-Gonzalez, Pedro, Jou, Cristina, Montoya, Julio, Emperador, Sonia, Ruiz-Pesini, Eduardo, Arenas, Joaquín, Martin, Miguel Angel, Ormazabal, Aida, Pineda, Mercè, García-Silva, María T, Artuch, Rafael
Publicado 2014

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

por Izquierdo-Serra, Mercè, Martínez-Monseny, Antonio F., López, Laura, Carrillo-García, Julia, Edo, Albert, Ortigoza-Escobar, Juan Darío, García, Óscar, Cancho-Candela, Ramón, Carrasco-Marina, M Llanos, Gutiérrez-Solana, Luis G., Cuadras, Daniel, Muchart, Jordi, Montero, Raquel, Artuch, Rafael, Pérez-Cerdá, Celia, Pérez, Belén, Pérez-Dueñas, Belén, Macaya, Alfons, Fernández-Fernández, José M., Serrano, Mercedes
Publicado 2018

Pathological Features in Paediatric Patients with TK2 Deficiency

por Jou, Cristina, Nascimento, Andres, Codina, Anna, Montoya, Julio, López-Gallardo, Ester, Emperador, Sonia, Ruiz-Pesini, Eduardo, Montero, Raquel, Natera-de Benito, Daniel, Ortez, Carlos I., Marquez, Jesus, Zelaya, Maria V., Gutierrez-Mata, Alfonso, Badosa, Carmen, Carrera-García, Laura, Expósito-Escudero, Jesica, Roldán, Monica, Camara, Yolanda, Marti, Ramon, Ferrer, Isidre, Jimenez-Mallebrera, Cecilia, Artuch, Rafael
Publicado 2022

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential no...

por Kalko, Susana Graciela, Paco, Sonia, Jou, Cristina, Rodríguez, Maria Angels, Meznaric, Marija, Rogac, Mihael, Jekovec-Vrhovsek, Maja, Sciacco, Monica, Moggio, Maurizio, Fagiolari, Gigliola, De Paepe, Boel, De Meirleir, Linda, Ferrer, Isidre, Roig-Quilis, Manel, Munell, Francina, Montoya, Julio, López-Gallardo, Ester, Ruiz-Pesini, Eduardo, Artuch, Rafael, Montero, Raquel, Torner, Ferran, Nascimento, Andres, Ortez, Carlos, Colomer, Jaume, Jimenez-Mallebrera, Cecilia
Publicado 2014

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

por Montero, Raquel, Yubero, Delia, Villarroya, Joan, Henares, Desiree, Jou, Cristina, Rodríguez, Maria Angeles, Ramos, Federico, Nascimento, Andrés, Ortez, Carlos Ignacio, Campistol, Jaume, Perez-Dueñas, Belen, O'Callaghan, Mar, Pineda, Mercedes, Garcia-Cazorla, Angeles, Oferil, Jaume Colomer, Montoya, Julio, Ruiz-Pesini, Eduardo, Emperador, Sonia, Meznaric, Marija, Campderros, Laura, Kalko, Susana G., Villarroya, Francesc, Artuch, Rafael, Jimenez-Mallebrera, Cecilia
Publicado 2016

Extracellular Tuning of Mitochondrial Respiration Leads to Aortic Aneurysm

por Oller, Jorge, Gabandé-Rodríguez, Enrique, Ruiz-Rodríguez, María Jesús, Desdín-Micó, Gabriela, Aranda, Juan Francisco, Rodrigues-Diez, Raquel, Ballesteros-Martínez, Constanza, Blanco, Eva María, Roldan-Montero, Raquel, Acuña, Pedro, Forteza Gil, Alberto, Martín-López, Carlos E., Nistal, J. Francisco, Lino Cardenas, Christian L., Lindsay, Mark Evan, Martín-Ventura, José Luís, Briones, Ana M., Miguel Redondo, Juan, Mittelbrunn, María
Publicado 2021

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

por Jou, Cristina, Ortigoza-Escobar, Juan D., O’Callaghan, Maria M., Nascimento, Andres, Darling, Alejandra, Pias-Peleteiro, Leticia, Perez-Dueñas, Belén, Pineda, Mercedes, Codina, Anna, Arjona, César, Armstrong, Judith, Palau, Francesc, Ribes, Antonia, Gort, Laura, Tort, Frederic, Navas, Placido, Ruiz-Pesini, Eduardo, Emperador, Sonia, Lopez-Gallardo, Ester, Bayona-Bafaluy, Pilar, Montero, Raquel, Jimenez-Mallebrera, Cecilia, Garcia-Cazorla, Angels, Montoya, Julio, Yubero, Delia, Artuch, Rafael
Publicado 2019

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

por Dominguez-Gonzalez, Cristina, Badosa, Carmen, Madruga-Garrido, Marcos, Martí, Itxaso, Paradas, Carmen, Ortez, Carlos, Diaz-Manera, Jordi, Berardo, Andres, Alonso-Pérez, Jorge, Trifunov, Selena, Cuadras, Daniel, Kalko, Susana G., Blázquez-Bermejo, Cora, Cámara, Yolanda, Martí, Ramon, Mavillard, Fabiola, Martin, Miguel A., Montoya, Julio, Ruiz-Pesini, Eduardo, Villarroya, Joan, Montero, Raquel, Villarroya, Francesc, Artuch, Rafael, Hirano, Michio, Nascimento, Andrés, Jimenez-Mallebrera, Cecilia
Publicado 2020

Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

por Cassis, Linda, Cortès-Saladelafont, Elisenda, Molero-Luis, Marta, Yubero, Delia, González, Maria Julieta, Herrero, Aida Ormazabal, Fons, Carme, Jou, Cristina, Sierra, Cristina, Castejon Ponce, Esperanza, Ramos, Federico, Armstrong, Judith, O’Callaghan, M. Mar, Casado, Mercedes, Montero, Raquel, Olivas, Silvia Maria Meavilla, Artuch, Rafael, Barić, Ivo, Bartoloni, Franco, Bellettato, Cinzia Maria, Bonifazi, Fedele, Ceci, Adriana, Cvitanović-Šojat, Ljerka, Dali, Christine I, D’Avanzo, Francesca, Fumic, Ksenija, Giannuzzi, Viviana, Lampe, Christina, Scarpa, Maurizio, Cazorla, Ángels Garcia-
Publicado 2015

Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

por Cassis, Linda, Cortès-Saladelafont, Elisenda, Molero-Luis, Marta, Yubero, Delia, González, Maria Julieta, Ormazábal, Aida, Fons, Carme, Jou, Cristina, Sierra, Cristina, Ponce, Esperanza Castejon, Ramos, Federico, Armstrong, Judith, O’Callaghan, M. Mar, Casado, Mercedes, Montero, Raquel, Meavilla-Olivas, Silvia, Artuch, Rafael, Barić, Ivo, Bartoloni, Franco, Bellettato, Cinzia Maria, Bonifazi, Fedele, Ceci, Adriana, Cvitanović-Šojat, Ljerka, Dali, Christine I., D’Avanzo, Francesca, Fumic, Ksenija, Giannuzzi, Viviana, Lampe, Christina, Scarpa, Maurizio, Garcia-Cazorla, Ángels
Publicado 2016