Browsing by Author Ribes Rubió, Maria Antònia
Showing results 1 to 12 of 12
| Issue Date | Title | Author(s) |
|---|---|---|
| 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 Brugada, 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 |
| 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 |
| 1-Aug-2023 | Functional Evidence of <i>CCDC186</i> as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations | Arrabal, L.; Muñoz Pujol, G.; Medina Martínez, I.; Gort, L.; García Villoria, Judit; Roldán, S.; Tort, Frederic; Ribes Rubió, Maria Antònia |
| Jul-2024 | Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing | Morales Romero, Blai; Muñoz Pujol, Gerard; Artuch Iriberri, Rafael; García Cazorla, Àngels; O'Callaghan, Mar; Sykut Cegielska, Jolanta; Campistol Plana, Jaume; Moreno Lozano, Pedro Juan; Oud, Machteld M; Wevers, Ron A.; Lefeber, Dirk J.; Esteve Codina, Anna; Yepez, Vicente A.; Gagneur, Julien; Wortmann, Saskia B.; Prokisch, Holger; Ribes Rubió, Maria Antònia; Garcia Villoria, Judit; Tort, Frederic |
| 30-Sep-2021 | Identificación y caracterización de nuevos defectos del metabolismo energético mitocondrial asociados a aciduria 3-metilglutacónica y a deficiencia del complejo I | Ugarteburu López, Olatz |
| 23-Nov-2023 | Implementació i desenvolupament d'estudis funcionals per demostrar la patogenicitat de variants de significat incert i identificar nous gens causants de malaltia | Muñoz Pujol, Gerard |
| 30-Nov-2022 | Leigh syndrome is the main clinical characteristic of PTCD3 deficiency | Muñoz Pujol, Gerard; Ortigoza Escobar, Juan D.; Paredes Fuentes, Abraham José; Jou, Cristina; Ugarteburu López, Olatz; Gort, Laura; Yubero, Delia; Garcia Cazorla, Angels; O'Callaghan, Mar; Campistol Plana, Jaume; Muchart, Jordi.; Yépez, Vicente A.; Gusic, Mirjana; Gagneur, Julien; Prokisch, Holger; Artuch Iriberri, Rafael; Ribes Rubió, Maria Antònia; Urreizti, Roser; Tort, Frederic |
| 1-Jan-2024 | Modeling Glutaric Aciduria Type I in human neuroblastoma cells recapitulates neuronal damage that can be rescued by gene replacement. | Mateu Bosch, Anna; Segur-Bailach, Eulalia; García Villoria, Judit; Gea Sorli, Sabrina; Ruiz, I.; Rey Calero, Juan del; Camps, Jordi; Guitart Mampel, Mariona; Garrabou Tornos, Glòria; Tort, Frederic; Ribes Rubió, Maria Antònia; Fillat i Fonts, Cristina |
| 28-Feb-2020 | Neuronal and astrocytic differentiation from Sanfilippo C syndrome iPSCs for disease modeling and drug development | Benetó, Noelia; Cozar, Mónica; Castilla-Vallmanya, Laura; Zetterdahl, Oskar G.; Sacultanu, Madalina; Segur-Bailach, Eulalia; García-Morant, María; Ribes Rubió, Maria Antònia; Ahlenius, Henrik; Grinberg Vaisman, Daniel Raúl; Vilageliu i Arqués, Lluïsa; Canals Montferrer, Isaac |
| 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 |