Browsing by Author Artuch, Rafael
Showing results 1 to 8 of 8
| Issue Date | Title | Author(s) |
|---|---|---|
| 7-Sep-2022 | Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2 | Castilla-Vallmanya, Laura; Centeno-Pla, Mónica; Serrano, Mercedes; Franco-Valls, Héctor; Martínez-Cabrera, Raúl; Prat-Planas, Aina; Rojano, Elena; Ranea, Juan A G; Seoane, Pedro; Oliva, Clara; Paredes Fuentes, Abraham José; Marfany i Nadal, Gemma; Artuch, Rafael; Grinberg Vaisman, Daniel Raúl; Rabionet Janssen, Raquel; Balcells Comas, Susana; Urreizti, Roser |
| 29-Sep-2021 | CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington's disease | Picó, Sara; Parras, Alberto; Santos Galindo, María; Pose Utrilla, Julia; Castro, Margarita; Fraga, Enrique; Hernández, Ivo H.; Elorza, Ainara; Anta, Héctor; Wang, Nan; Martí Sánchez, Laura; Belloc, Eulàlia; Garcia Esparcia, Patricia; Garrido, Juan J.; Ferrer, Isidro; Macías García, Daniel; Mir, Pablo; Artuch, Rafael; Pérez, Belén; Hernández, Félix; Navarro, Pilar; López Sendón, José Luis; Iglesias, Teresa; Yang, X. William; Méndez, Raúl; Lucas, José J. |
| 16-Feb-2024 | Decreased brain serotonin in rbfox1 mutant zebrafish and partial reversion of behavioural alterations by the SSRI fluoxetine | Adel, Maja R.; Antón Galindo, Ester; Gago-Garcia, Edurne; Arias-Dimas, Ángela; Arenas Solà, Concepción; Artuch, Rafael; Cormand Rifà, Bru; Fernàndez Castillo, Noèlia |
| 5-Dec-2023 | Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study | Gràcia-Garcia, Silvia; Mayayo Vallverdú, Clara; Prat, Esther; Vecino-Pérez, Marta; González, Laura; San Miguel, Luz; Lopera, Noelia; Arias, Ángela; Artuch, Rafael; López de Heredia, Miguel; Torrecilla, Carlos; Rousaud-Barón, Ferran; Angerri, Oriol; Errasti-Murugarren, Ekaitz; Nunes Martínez, Virginia |
| 20-May-2024 | Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy | Launay, Nathalie; López Erauskin, Jone; Bianchi, Patrizia; Guha, Sanjib; Parameswaran, Janani; Coppa, Andrea; Torreni, Lorenzo; Schlüter, Agatha; Fourcade, Stéphane; Paredes Fuentes, Abraham José; Artuch, Rafael; Casasnovas Pons, Carlos; Ruiz Sales, Montserrat; Pujol, Aurora, 1968- |
| 1-Sep-2024 | Regulation of ClC-K/barttin by endocytosis influences distal convoluted tubule hyperplasia | Mayayo Vallverdú, Clara; Gaitán-Peñas, Héctor; Armand-Ugón, Mercedes; Muhaisen, Ashraf; Prat, Esther; Castellanos, Aida; Elorza Vidal, Xabier; López de Heredia, Miguel; Alonso Gardón, Marta; Pérez Rius, Carla; Vecino-Pérez, Marta; Mallén, Adrián; Errasti-Murugarren, Ekaitz; Hueso Val, Miguel; Artuch, Rafael; Nunes Martínez, Virginia; Estévez Povedano, Raúl |
| 6-Apr-2024 | Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter | Rullo Tubau, Josep; Martínez Molledo, Maria; Bartoccioni, Paola; Puch Giner, Ignasi; Arias, Ángela; Saen-oon, Suwipa; Stephan-Otto Attolini, Camille; Artuch, Rafael; Díaz, Lucía; Guallar, Victor; Errasti-Murugarren, Ekaitz; Palacín, Manuel; Llorca, Oscar |
| May-2022 | Systematic collaborative reanalysis of genomic data improves diagnostic yield in neurologic rare diseases | Bullich, 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 García, Conxi; Luengo, Critina; Martí, Ramon; Milà, Montserrat; Ovelleiro, David; Parra, Genís; Pujol, Aurora, 1968-; Tizzano Ferrari, Eduardo; Macaya, Alfonso; Palau, Francesc; Ribes, Antonio; Pérez-Jurado, Luis Alberto; Beltran, Sergi; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium.; Rabionet Janssen, Raquel; Balcells Comas, Susana |