Browsing by Author Ribes Rubió, Maria Antònia
Showing results 1 to 10 of 10
| Issue Date | Title | Author(s) |
|---|---|---|
| 15-Apr-2016 | Búsqueda de nuevas estrategias y agentes terapéuticos en enfermedades metabólicas hereditarias | Matalonga Borrel, Lesley |
| 13-Aug-2019 | Clinical presentation and proteomic signature of patients with TANGO2 mutations | Mingirulli, Nadja; Pyle, Angela; Hathazi, Denisa; Alston, Charlotte L.; Kohlschmidt, Nicolai; O'Grady, Gina; Waddell, Leigh; Evesson, Frances; Cooper, Sandra B. T.; Turner, Christian; Duff, Jennifer; Topf, Ana; Yubero, Delia; Jou, Cristina; Nascimento, Andrés; Ortez, Carlos Ignacio; García Cazorla, Àngels; Gross, Claudia; O'Callaghan, Maria; Santra, Saikat; Preece, Maryanne A.; Champion, Michael; Korenev, Sergei; Chronopoulou, Efsthatia; Anirban, Majumdar; Pierre, Germaine; McArthur, Daniel; Thompson, Kyle; Navas, Placido; Ribes Rubió, Maria Antònia; Tort, Frederic; Schlüter, Agatha; Pujol Onofre, Aurora; Montero, Raquel; Sarquella, Georgia; Lochmüller, Hanns; Jiménez Mallebrera, Cecilia; Taylor, Robert W.; Artuch Iriberri, Rafael; Kirschner, Janbernd; Grünert, Sarah C.; Roos, Andreas; Horvath, Rita |
| 6-Oct-2016 | Deficiencia de 2-metil-3-hidroxibutiril-CoA deshidrogenasa (MHBD o HSD10) e implicaciones en la enfermedad de Alzheimer | García Villoria, Judit |
| 15-Oct-2022 | Diagnostic odyssey in an adult patient with ophthalmologic abnormalities and hearing loss: Contribution of RNA-seq to the diagnosis of a PEX1 deficiency. | Muñoz-Pujol, Gerard; Alforja, Socorro; Casaroli Marano, Ricardo Pedro; Morales Romero, Blai; García Villoria, Judit; Yépez, Vicente A; Gagneur, Julien; Gusic, Mirjana; Prokisch, Holger; Tort, Frederic; Ribes Rubió, Maria Antònia |
| 3-Oct-2016 | Estudios de biomarcadores y de posibles terapias en la deficiencia del transportador de creatina y en la enfermedad de Niemann-Pick tipo C | Pajares García, Sonia |
| 11-Jun-2010 | Extended ischemia prevents HIF1alpha degradation at reoxygenation by impairing prolyl-hydroxylation: role of Krebs cycle metabolites | Serra Pérez, Anna; Planas Obradors, Anna Maria; Núñez-O'Mara, Analía; Berra, Edurne; García Villoria, Judit; Ribes Rubió, Maria Antònia; Santalucía Albi, Tomàs |
| 23-May-2014 | Fatty acid transport protein 1 (FATP1) delivered into skeletal muscle localizes in mitochondria and regulates lipid and ketone body disposal | Guitart de la Rosa, Maria; Osorio Conles, Óscar; Pentinat Pelegrin, Thais; Cebrià, Judith; García Villoria, Judit; Sala Cano, David; Sebastián Muñoz, David; Zorzano Olarte, Antonio; Ribes Rubió, Maria Antònia; Jiménez Chillarón, José Carlos; García Martínez, Celia; Gómez Foix, Anna Maria |
| 2-Feb-2018 | Ghrelin causes a decline in GABA release by reducing fatty acid oxidation in cortex | Mir Bonnín, Joan Francesc; Zagmutt Caroxa, Sebastián; Lichtenstein, Mathieu P.; García Villoria, Judit; Weber Blattes, Minéia; Gracia, Ana; Fabriàs Domingo, Gemma; Casas Brugulat, Josefina; López, Miguel; Casals i Farré, Núria; Ribes Rubió, Maria Antònia; Suñol, Cristina; Herrero Rodríguez, Laura; Serra i Cucurull, Dolors |
| 26-Mar-2020 | Physiopathological bases of the disease caused by HACE1 mutations: alterations in autophagy, mitophagy and oxidative stress response | Ugarteburu López, Olatz; Sánchez-Vilés, Marta; Ramos, Julio; Barcos Rodríguez, Tamara; Garrabou Tornos, Glòria; García Villoria, Judit; Ribes Rubió, Maria Antònia; Tort, Frederic |
| 31-May-2016 | Targeted next generation sequencing in patients with inborn errors of metabolism | Yubero Siles, Dèlia; Brandi, Nuria; Ormazabal Herrero, Aida; Garcia-Cazorla, Àngels; Pérez Dueñas, Belén; Campistol Plana, Jaume; Ribes Rubió, Maria Antònia; Palau Martínez, Francesc; Artuch Iriberri, Rafael; Armstrong i Morón, Judith |