檢索結果 - Ribes, Antonia

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

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

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

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

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

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

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X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency 由 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

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Reply to He et al 由 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

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Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria 由 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

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Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development 由 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

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Variants in the ethylmalonyl‐CoA decarboxylase ( ECHDC1 ) gene: a novel player in ethylmalonic aciduria? 由 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.

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Fatty Acid Transport Protein 1 (FATP1) Localizes in Mitochondria in Mouse Skeletal Muscle and Regulates Lipid and Ketone Body Disposal 由 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.

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Ghrelin Causes a Decline in GABA Release by Reducing Fatty Acid Oxidation in Cortex 由 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

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Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle 由 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

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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency 由 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

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Discovery of a novel non-iminosugar acid alpha glucosidase chaperone series 由 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.

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The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism 由 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.

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Newborn Screening for SCID. Experience in Spain (Catalonia) 由 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

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First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain) 由 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

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A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins 由 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

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