Browsing by Author Tort, Frederic
Showing results 1 to 7 of 7
| Issue Date | Title | Author(s) |
|---|---|---|
| 13-Feb-2018 | Cardiac and placental mitochondrial characterization in a rabbit model of intrauterine growth restriction | Guitart Mampel, Mariona; González Tendero, Anna; Niñerola, S.; Morén Núñez, Constanza; Catalán García, Marc; González Casacuberta, Ingrid; Juárez Flores, Diana Luz; Ugarteburu López, Olatz; Matalonga Borrel, Lesley; Cascajo, M. V.; Tort, Frederic; Cortés, A.; Tobías, Ester; Milisenda, José; Grau Junyent, Josep M. (Josep Maria); Crispi Brillas, Fàtima; Gratacós Solsona, Eduard; Garrabou Tornos, Glòria; Cardellach, Francesc |
| 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 |
| 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-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 J.; 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, Antonia; 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, A.; Fillat i Fonts, Cristina |
| 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 |