検索結果 - Ribes, Antonia

Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue 著者: Font, Aida, Tort, Frederic, Navarro-Sastre, Aleix, Cusí, Victòria, García-Villoria, Judit, Briones, Paz, Ribes, Antonia

全文の入手 全文の入手 全文の入手

Extended Ischemia Prevents HIF1α Degradation at Reoxygenation by Impairing Prolyl-hydroxylation: ROLE OF KREBS CYCLE METABOLITES 著者: Serra-Pérez, Anna, Planas, Anna M., Núñez-O'Mara, Analía, Berra, Edurne, García-Villoria, Judit, Ribes, Antònia, Santalucía, Tomàs

全文の入手 全文の入手 全文の入手

Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response 著者: Ugarteburu, Olatz, Sánchez-Vilés, Marta, Ramos, Julio, Barcos-Rodríguez, Tamara, Garrabou, Gloria, García-Villoria, Judit, Ribes, Antonia, Tort, Frederic

全文の入手 全文の入手 全文の入手

Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson’s Disease 著者: Segur-Bailach, Eulàlia, Ugarteburu, Olatz, Tort, Frederic, Texido, Laura, Painous, Celia, Compta, Yaroslau, Martí, Maria José, Ribes, Antonia, Gort, Laura

全文の入手 全文の入手 全文の入手

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism 著者: Yubero, Dèlia, Brandi, Núria, Ormazabal, Aida, Garcia-Cazorla, Àngels, Pérez-Dueñas, Belén, Campistol, Jaime, Ribes, Antonia, Palau, Francesc, Artuch, Rafael, Armstrong, Judith

全文の入手 全文の入手 全文の入手

Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency 著者: Pajares, Sonia, Arias, Angela, García-Villoria, Judit, Macías-Vidal, Judit, Ros, Emilio, de las Heras, Javier, Girós, Marisa, Coll, Maria J., Ribes, Antonia

全文の入手 全文の入手 全文の入手

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency 著者: García-Villoria, Judit, Gort, Laura, Madrigal, Irene, Fons, Carme, Fernández, Cristina, Navarro-Sastre, Aleix, Milà, Montserrat, Briones, Paz, García-Cazorla, Angeles, Campistol, Jaume, Ribes, Antonia

全文の入手 全文の入手 全文の入手

Reply to He et al 著者: García-Villoria, Judit, Gort, Laura, Madrigal, Irene, Fons, Carme, Fernández, Cristina, Navarro-Sastre, Aleix, Mila, M, Briones, Paz, García-Cazorla, Ma Angeles, Campistol, Jaume, Ribes, Antonia

全文の入手 全文の入手

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria 著者: Puisac, Beatriz, Arnedo, María, Casale, Cesar H., Ribate, María Pilar, Castiella, Tomás, Ramos, Feliciano J., Ribes, Antonia, Pérez-Cerdá, Celia, Casals, Nuria, Hegardt, Fausto G., Pié, Juan

全文の入手 全文の入手 全文の入手

Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development 著者: Benetó, Noelia, Cozar, Monica, Castilla-Vallmanya, Laura, Zetterdahl, Oskar G., Sacultanu, Madalina, Segur-Bailach, Eulalia, García-Morant, María, Ribes, Antonia, Ahlenius, Henrik, Grinberg, Daniel, Vilageliu, Lluïsa, Canals, Isaac

全文の入手 全文の入手 全文の入手

Variants in the ethylmalonyl‐CoA decarboxylase ( ECHDC1 ) gene: a novel player in ethylmalonic aciduria? 著者: Fogh, Sarah, Dipace, Graziana, Bie, Anne, Veiga‐da‐Cunha, Maria, Hansen, Jakob, Kjeldsen, Margrethe, Mosegaard, Signe, Ribes, Antonia, Gregersen, Niels, Aagaard, Lars, Van Schaftingen, Emile, Olsen, Rikke K. J.

全文の入手 全文の入手 全文の入手

Fatty Acid Transport Protein 1 (FATP1) Localizes in Mitochondria in Mouse Skeletal Muscle and Regulates Lipid and Ketone Body Disposal 著者: Guitart, Maria, Osorio-Conles, Óscar, Pentinat, Thais, Cebrià, Judith, García-Villoria, Judit, Sala, David, Sebastián, David, Zorzano, Antonio, Ribes, Antonia, Jiménez-Chillarón, Josep C., García-Martínez, Celia, Gómez-Foix, Anna M.

全文の入手 全文の入手 全文の入手

Ghrelin Causes a Decline in GABA Release by Reducing Fatty Acid Oxidation in Cortex 著者: Mir, Joan Francesc, Zagmutt, Sebastián, Lichtenstein, Mathieu P, García-Villoria, Judit, Weber, Minéia, Gracia, Ana, Fabriàs, Gemma, Casas, Josefina, López, Miguel, Casals, Núria, Ribes, Antònia, Suñol, Cristina, Herrero, Laura, Serra, Dolors

全文の入手 全文の入手 全文の入手

Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle 著者: Hernández-Camacho, Juan Diego, Fernández-Ayala, Daniel J. M., Vicente-García, Cristina, Navas-Enamorado, Ignacio, López-Lluch, Guillermo, Oliva, Clara, Artuch, Rafael, Garcia-Villoria, Judith, Ribes, Antonia, de Cabo, Rafael, Carvajal, Jaime J., Navas, Plácido

全文の入手 全文の入手 全文の入手

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency 著者: Couce, Maria Luz, Sánchez-Pintos, Paula, Diogo, Luisa, Leão-Teles, Elisa, Martins, Esmeralda, Santos, Helena, Bueno, Maria Amor, Delgado-Pecellín, Carmen, Castiñeiras, Daisy E, Cocho, José A, García-Villoria, Judit, Ribes, Antonia, Fraga, José M, Rocha, Hugo

全文の入手 全文の入手 全文の入手

Discovery of a novel non-iminosugar acid alpha glucosidase chaperone series 著者: Xiao, Jingbo, Westbroek, Wendy, Motabar, Omid, Lea, Wendy A., Hu, Xin, Velayati, Arash, Zheng, Wei, Southall, Noel, Gustafson, Ann Marie, Goldin, Ehud, Sidransky, Ellen, Liu, Ke, Simeonov, Anton, Tamargo, Rafael J., Ribes, Antonia, Matalonga, Leslie, Ferrer, Marc, Marugan, Juan J.

全文の入手 全文の入手 全文の入手

The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism 著者: Gallardo, M. Esther, Desviat, Lourdes R., Rodríguez, José M., Esparza-Gordillo, Jorge, Pérez-Cerdá, Celia, Pérez, Belén, Rodríguez-Pombo, Pilar, Criado, Olga, Sanz, Raul, Morton, D. Holmes, Gibson, K. Michael, Le, Thuy P., Ribes, Antonia, de Córdoba, Santiago Rodríguez, Ugarte, Magdalena, Peñalva, Miguel Á.

全文の入手 全文の入手

Newborn Screening for SCID. Experience in Spain (Catalonia) 著者: Argudo-Ramírez, Ana, Martín-Nalda, Andrea, González de Aledo-Castillo, Jose Manuel, López-Galera, Rosa, Marín-Soria, Jose Luis, Pajares-García, Sonia, Martínez-Gallo, Mónica, García-Prat, Marina, Colobran, Roger, Riviere, Jacques G., Quintero, Yania, Collado, Tatiana, Ribes, Antonia, García-Villoria, Judit, Soler-Palacín, Pere

全文の入手 全文の入手 全文の入手

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain) 著者: Argudo-Ramírez, Ana, Martín-Nalda, Andrea, Marín-Soria, Jose L., López-Galera, Rosa M., Pajares-García, Sonia, González de Aledo-Castillo, Jose M., Martínez-Gallo, Mónica, García-Prat, Marina, Colobran, Roger, Riviere, Jacques G., Quintero, Yania, Collado, Tatiana, García-Villoria, Judit, Ribes, Antonia, Soler-Palacín, Pere

全文の入手 全文の入手 全文の入手

A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins 著者: Navarro-Sastre, Aleix, Tort, Frederic, Stehling, Oliver, Uzarska, Marta A., Arranz, José Antonio, del Toro, Mireia, Labayru, M. Teresa, Landa, Joseba, Font, Aida, Garcia-Villoria, Judit, Merinero, Begoña, Ugarte, Magdalena, Gutierrez-Solana, Luis Gonzalez, Campistol, Jaume, Garcia-Cazorla, Angels, Vaquerizo, Julian, Riudor, Encarnació, Briones, Paz, Elpeleg, Orly, Ribes, Antonia, Lill, Roland

全文の入手 全文の入手 全文の入手