Browsing by Author Martí, Ramon

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Showing results 1 to 6 of 6
Issue DateTitleAuthor(s)
1-Oct-2014Downregulation of duodenal SLC transporters and activation of proinflammatory signaling constitute the early response to high altitude in humansWojtal, Kacper A.; Cee, Alexandra; Lang, Silvia; Götze, Oliver; Frühauf, Heiko; Geier, Andreas; Pastor Anglada, Marçal; Torres Torronteras, Javier; Martí, Ramon; Fried, Michael; Lutz, Thomas A.; Maggiorini, Marco; Gassmann, MAX; Rogler, Gerhard; Vavricka, Stephan R.
22-Jun-2020Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathyDomínguez 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
6-Jan-2019Late-onset thymidine kinase 2 deficiency: a review of 18 casesDomínguez González, Cristina; Hernández lain, Aurelio; Rivas, Eloy; Hernández Voth, Ana; Sayas Catalán, Javier; Fernández Torrón, Roberto; Fuiza Luces, Carmen; García García, Jorge; Morís, Germán; Olivé i Plana, Montserrat; Miralles, Francesc; Díaz Manera, Jordi; Caballero, Candela; Méndez Ferrer, Bosco; Martí, Ramon; García Arumí, Elena; Badosa, Carmen; Esteban, Jesús; Jiménez-Mallebrera, Cecilia; Blázquez Encinar, Alberto; Arenas, Joaquín; Hirano, Michio; Martin, Miguel Ángel; Paradas, Carmen
May-2022Systematic collaborative reanalysis of genomic data improves diagnostic yield in neurologic rare diseasesBullich, Gemma; Matalonga, Leslie; Pujadas, Montserrat; Papakonstantinou, Anastasios; Piscia, Davide; Tonda, Raúl; Artuch, Rafael; Gallano, Pia; Garrabou Tornos, Glòria; González, Juan R.; Grinberg Vaisman, Daniel Raúl; Guitart, Míriam; Laurie, Steven; Lázaro, Conxi; Luengo, Critina; Martí, Ramon; Milà, Montserrat; Ovelleiro, David; Parra, Genís; Pujol, Aurora; Tizzano, Eduardo; Macaya, Alfonso; Palau, Francesc; Ribes, Antonio; Pérez-Jurado, Luis A.; Beltran, Sergi; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium.; Rabionet Janssen, Raquel; Balcells Comas, Susana
5-Aug-2021Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic InsufficiencyCarreño-Gago, Lidia; Juárez-Flores, Diana Luz; Grau, Josep Maria; Ramón, Javier; Lozano Garcia, Ester; Vila-Julià, Ferran; Martí, Ramon; Garrabou Tornos, Glòria; Garcia-Arumí, Elena
2010Uridine metabolism in HIV-1-infected patients: effect of infection, of antiretroviral therapy and of HIV-1/ART-associated lypodystrophy syndrome.Domingo, Pere (Domingo Pedrol); Torres Torronteras, Javier; Pomar Solchaga, Virginia; Giralt i Oms, Marta; Domingo i Pedrol, Joan Carles; Gutiérrez, Maria del Mar; Gallego Escuredo, José Miguel; Mateo, Maria Gracia; Cano Soldado, Pedro Javier; Fernández, Irene; Pastor Anglada, Marçal; Vidal, Francesc; Villarroya i Gombau, Francesc; Andreu, Antoni; Martí, Ramon