Browsing by Author Jou, Cristina
Showing results 9 to 15 of 15
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| Issue Date | Title | Author(s) |
|---|---|---|
| 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, Jaume; Muchart, Jordi.; Yépez, Vicente A.; Gusic, Mirjana; Gagneur, Julien; Prokisch, Holger; Artuch Iriberri, Rafael; Ribes, Antonia; Urreizti, Roser; Tort, Frederic |
| 23-Mar-2015 | Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations | Brito, Sara; Thompson, Kyle; Campistol Plana, Jaume; Colomer Oferil, Jaume; Hardy, Steven A.; Langping, He; Fernández Marmiesse, Ana; Palacios, Lourdes; Jou, Cristina; Jiménez Mallebrera, Cecilia; Armstrong i Morón, Judith; Montero Sánchez, Raquel; Artuch Iriberri, Rafael; Tischner, Christin; Wenz, Tina; McFarland, Robert; Taylor, Robert W. |
| 17-Nov-2022 | Low transmission of SARS-CoV-2 derived from children in family clusters: An observational study of family households in the Barcelona Metropolitan Area, Spain | Melé Casas, Maria; Launes Montaña, Cristian; Fernández de Sevilla Estrach, Mariona; Hernández García, María; Pons Tomàs, Gemma; Bassat Orellana, Quique; Fumadó, Victoria; Fortuny Guasch, Claudia; Garcia Miquel, Aleix; Bonet Carné, Elisenda; Prats, Clara; Ajanovic, Sara; Cubells, Marta; Claverol, Joana; Penela Sánchez, Daniel; Jou, Cristina; Arias, Sara; Balanza, Núria; Baro, Bàrbara; Millat-Martínez, Pere; Alonso Muñoz, Sergio; Álvarez Lacalle, Enrique; Català, Martí; Cuadras, Daniel; Muñoz-Almagro, Carmen; Gratacós Solsona, Eduard; Jordán García, Iolanda; García García, Juan José |
| 20-Sep-2022 | Pathological Features in Paediatric Patients with TK2 Deficiency | Jou, Cristina; Nascimento, Andres; Codina, Anna; Montoya, Julio; López-Gallardo, Ester; Emperador, Sonia; Ruiz-pesini, Eduardo; Montero, Raquel; Natera-de Benito, Daniel; Ortez, Carlos I.; Marquez, Jesus; Zelaya, Maria V.; Gutierrez-mata, Alfonso; Badosa, Carmen; Carrera-García, Laura; Expósito-escudero, Jesica; Roldán, Monica; Camara, Yolanda; Marti, Ramon; Ferrer, Isidre; Jimenez-mallebrera, Cecilia; Artuch Iriberri, Rafael |
| 23-Oct-2012 | Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy | Juan Mateu, Jonàs; Rodríguez, Maria José; Nascimento, Andrés; Jiménez Mallebrera, Cecilia; González Quereda, Lidia; Rivas, Eloy; Paradas, Carmen; Madruga, Marcos; Sánchez Ayaso, Pedro; Jou, Cristina; González Mera, Laura; Munell Casadesús, Francina; Roig Quilis, Manuel; Rabasa, Maria; Hernández Lain, Aurelio; Díaz Manera, Jordi; Gallardo, Eduard; Pascual Calvet, Jordi; Verdura, Edgard; Colomer Oferil, Jaume; Baiget Bastús, Montserrat; Olivé i Plana, Montserrat; Gallano, Pia |
| 23-May-2023 | Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity | Planas Serra, Laura; Launay, Nathalie; Goicoechea, Leire; Heron, Bénédicte; Jou, Cristina; Juliá Palacios, Natalia; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas Pons, Carlos; Torre, Carolina de la; Gelot, Antoinette; Marsal, Maria; Loza Álvarez, Pablo; García Cazorla, Àngels; Fatemi, Ali; Ferrer, Isidro (Ferrer Abizanda); Portero Otin, Manuel; Area Gómez, Estela; Pujol Onofre, Aurora |
| 1-Feb-2014 | Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies | Kalko, Susana; Paco Mercader, Sonia; Jou, Cristina; Rodríguez, María Angeles; Meznaric, Marija; Rogac, Mihael; Jekovec-Vrhovsek, Maja; Sciacco, Monica; Moggio, Maurizio; Fagiolari, Gigliola; De Paepe, Boel; De Meirleir, Linda; Ferrer, Isidro (Ferrer Abizanda); Roig Quilis, Manuel; Munell Casadesús, Francina; Montoya, Julio; López Gallardo, Ester; Ruiz Pesini, Eduardo; Artuch Iriberri, Rafael; Montero Sánchez, Raquel; Torner Rubies, Ferran; Nascimento, Andrés; Ortez, Carlos Ignacio; Colomer Oferil, Jaume; Jiménez Mallebrera, Cecilia |