Browsing by Author Artuch Iriberri, Rafael
Showing results 21 to 37 of 37
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| Issue Date | Title | Author(s) |
|---|---|---|
| 11-Feb-2016 | GDF-15 is elevated in children with mitochondrial diseases and is induced by mitochondrial dysfunction | Montero Sánchez, Raquel; Yubero Siles, Dèlia; Villarroya i Terrade, Joan; Henares, Desiree; Jou, Cristina; Rodríguez, María Angeles; Ramos, Federico; Nascimento, Andrés; Ortez, Carlos Ignacio; Campistol Plana, Jaume; Pérez Dueñas, Belén; O'Callaghan, Mar; Pineda Marfà, Mercè; Garcia-Cazorla, Àngels; Oferil, Jaume Colomer; Montoya, Julio; Ruiz Pesini, Eduardo; Emperador, Sonia; Meznaric, Marija; Campderrós Traver, Laura; Kalko, Susana; Villarroya i Gombau, Francesc; Artuch Iriberri, Rafael; Jiménez Mallebrera, Cecilia |
| 22-Jun-2020 | Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy | Domínguez González, Cristina; Badosa, Carmen; Madruga Garrido, Marcos; Martí, Itxaso; Paradas, Carmen; Ortez, Carlos Ignacio; Díaz Manera, Jordi; Berardo, Andrés; Alonso Pérez, Jorge; Trifunov, Selena; Cuadras, Daniel; Kalko, Susana G.; Blázquez Bermejo, Cora; Cámara Navarro, Yolanda; Martí, Ramon; Mavillard, Fabiola; Martín, Miguel A.; Montoya, Julio; Ruíz Pesini, Eduardo; Villarroya i Terrade, Joan; Montero Sánchez, Raquel; Villarroya i Gombau, Francesc; Artuch Iriberri, Rafael; Hirano, Michio; Nascimento, Andrés; Jiménez Mallebrera, Cecilia |
| 5-Oct-2020 | Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome | García Cazorla, Àngels; Verdura, Edgard; Juliá Palacios, Natalia; Anderson, Eric N.; Goicoechea, Leire; Planas Serra, Laura; Tsogtbaatar, Enkhtuul; Dsouza, Nikita R.; Schlüter, Agatha; Urreizti, Roser; Tarnowski, Jessica M.; Gavrilova, Ralitza H.; SHMT Working Group; Ruiz, Montserrat; Rodríguez Palmero, Agustí; Fourcade, Stéphane; Cogné, Benjamin; Besnard, Thomas; Vincent, Marie; Bézieau, Stéphane; Folmes, Clifford D.; Zimmermann, Michael T.; Klee, Eric W.; Pandey, Udai Bhan; Artuch Iriberri, Rafael; Cousin, Margot A.; Pujol Onofre, Aurora |
| 24-Oct-2019 | Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease | Bodoy i Salvans, Susanna; Sotillo, Fernando; Espino-Guarch, Meritxell; Sperandeo, Maria Pia; Ormazabal Herrero, Aida; Zorzano Olarte, Antonio; Sebastio, Gianfranco; Artuch Iriberri, Rafael; Palacín Prieto, Manuel |
| 6-Feb-2023 | IPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation | Tristá Noguero, Alba; Fernández Carasa, Irene; Calatayud, Carles; Bermejo Casadesús, Cristina; Pons Espinal, Meritxell; Colini Baldeschi, Arianna; Campa, Leticia; Artigas, Francesc; Bortolozzi, Analia; Domingo Jiménez, Rosario; Ibáñez, Salvador; Pineda, Mercè; Artuch Iriberri, Rafael; Raya, Ángel; García Cazorla, Àngels; Consiglio, Antonella |
| 12-Sep-2021 | Kynurenine pathway in post-mortem prefrontal cortex and cerebellum in schizophrenia: relationship with monoamines and symptomatology | Ben Afia, Amira; Vila, Èlia; MacDowell, Karina S.; Ormazabal Herrero, Aida; Leza, Juan Carlos; Haro Abad, Josep Maria; Artuch Iriberri, Rafael; Ramos Josemaría, Belén; García Bueno, Borja |
| 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. |
| 26-Feb-2013 | Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas | Sarrión Pérez-Caballero, Patricia; Sangorrin, A.; Urreizti, Roser; Delgado, A.; Artuch Iriberri, Rafael; Martorell, L.; Armstrong i Morón, Judith; Antón López, Jordi; Torner Rubies, Ferran; Vilaseca, M. A.; Nevado, J.; Lapunzina, Pablo; Asteggiano, Carla; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl |
| 1-Feb-2007 | Oral insulin-mimetic compounds that act independently of insulin | García-Vicente, Silvia; Yraola, Francesc; Marti, Luc; González-Muñoz, Elena; García-Barrado, María José; Cantó, Carles; Abella, Anna; Bour, Sandy; Artuch Iriberri, Rafael; Sierra, Cristina; Brandi, Nuria; Carpéné, Christian; Moratinos, Julio; Camps Camprubí, Marta; Palacín Prieto, Manuel; Testar, Xavier; Gumà i Garcia, Anna Maria; Albericio Palomera, Fernando; Royo Expósito, Miriam; Mian, Alec; Zorzano Olarte, Antonio |
| 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 |
| 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 |
| 1-Aug-2023 | The antioxidant l-ergothioneine prevents cystine lithiasis in the Slc7a9-/- mouse model of cystinuria | Mayayo Vallverdú, Clara; López de Heredia, Miguel; Prat, Esther; González, Laura; Espino-Guarch, Meritxell; Vilches, Clara; Muñoz, Lourdes; Asensi, Miguel A.; Serra, Carmen; Llebaria, Amadeu; Casado, Mercedes; Artuch Iriberri, Rafael; Garrabou Tornos, Glòria; Garcia Roves, Pablo M.; Pallardó, Federico V.; Nunes Martínez, Virginia |
| 9-Feb-2018 | The Decrease In Mitochondrial DNA Mutation Load Parallels Visual Recovery In A Leber Hereditary Optic Neuropathy Patient | Emperador, Sonia; Vidal, Mariona; Hernández Ainsa, Carmen; Ruiz Ruiz, Cristina; Woods, Daniel; Morales Becerra, Ana; Arruga Ginebreda, Jordi; Artuch Iriberri, Rafael; López Gallardo, Ester; Bayona Bafaluy, M. Pilar; Montoya, Julio; Ruiz Pesini, Eduardo |
| 14-Oct-2020 | The Value of Mouse Models of Rare Diseases: A Spanish Experience | Murillo Cuesta, Silvia; Artuch Iriberri, Rafael; Asensio, Fernando; Villa, Pedro de la; Dierssen, Mara; Enriquez, Jose Antonio; Fillat i Fonts, Cristina; Fourcade, Stéphane; Ibánez, Borja; Montoliu, Lluis; Oliver, Eduardo; Pujol Onofre, Aurora; Salido, Eduardo; Vallejo, Mario; Varela Nieto, Isabel; Working Group on Animal Models of Rare Diseases; Networking Center for Rare Diseases (CIBERER) |
| 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 |
| Apr-2023 | Unraveling Inclusion Body Myositis Using a Patient-derived Fibroblast Model | Cantó Santos, Judith; Valls Roca, Laura; Tobías, Ester; García-García, Francesc Josep; Guitart Mampel, Mariona; Esteve Codina, Anna; Martín Mur, Beatriz; Casado, Mercedes; Artuch Iriberri, Rafael; Solsona Vilarrasa, Estel; Fernández Checa Torres, José Carlos; García Ruiz, Carmen; Rentero Alfonso, Carles; Enrich Bastús, Carles; Moreno Lozano, Pedro; Milisenda, José; Cardellach, Francesc; Grau Junyent, Josep M. (Josep Maria); Garrabou Tornos, Glòria |