Browsing by Author Artuch, Rafael
Showing results 1 to 5 of 5
| 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 J; Marfany i Nadal, Gemma; Artuch, Rafael; Grinberg Vaisman, Daniel Raúl; Rabionet Janssen, Raquel; Balcells Comas, Susana; Urreizti, Roser |
| May-2022 | CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative | Luque, Juan; Mendes, Ingrid; Gómez, Beatriz; Morte, Beatriz; López de Heredia, Miguel; Herreras, Enrique; Corrochano, Virginia; Bueren, Juan; Gallano, Pía; Artuch, Rafael; Fillat, Cristina; Pérez Jurado, Luis A.; Montoliu, Lluis; Carracedo, Ángel; Millán, José M.; Webb, Susan M.; Palau, Francesc; The CIBERER Network; Lapunzina, Pablo |
| 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. |
| 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 |
| 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, 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 |