Roser Colomé Roura
Investigador
Professional network profiles
Last Publications
- Perez Beltran, Meritxell, Roldan-Merino J, Russi ME, Garau-Rolandi M, Colomé-Roura R, Sampaio, Francisco, Domínguez M, Farrés M, Hurtado B and Alda JA The Development and Content Validation of a Clinical Screening Scale to Identify Attention-Deficit Hyperactivity Disorder Cases Based on the Gender Perspective: An e-Delphi Study Healthcare . 12(13): 1282.
- Julià-Palacios NA, Olivella M, Sigatullina M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, SERGIO AGUILERA ALBESA, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera IF, Pérez M, Colomé-Roura R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal-Herrero A, Alonso-Colmenero I, Illescas KS, Balsells S, Marí-Vico R, Maria Duffo Viñas, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, L Muro V, Karall D, Zeiner F, Masnada S, Peterlongo I, De Oyarzabal-Sanz AL, Santos-Gómez A, Altafaj X and Garcia-Cazorla A L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study BRAIN . : 1653-1666.
- Tamura N, Sakai S, Martorell-Sampol L, Colomé-Roura R, Mizuike A, Goto A, Ortigoza-Escobar JD and Hanada K Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution JOURNAL OF BIOLOGICAL CHEMISTRY . 297(5): 101338-101338.
Projects
- Project name:
- Eficacia y tolerabilidad de la coenzima Q (Ubiquinol) en pacientes con trastornos mitocondriales y ataxias cerebelosas
- Leader
- MªAngels García Cazorla
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- ICI22/00092
- Starting - finishing date:
- 2023 - 2026
- Project name:
- Teràpies personalitzades pels trastorns cognitiu-conductuals de les malalties hereditàries del metabolisme en l'edat pediàtrica
- Leader
- MªAngels García Cazorla, Roser Colomé Roura
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2020 DI 103
- Starting - finishing date:
- 2021 - 2025
- Project name:
- Rare Coding Genetic Variants Associated with neonatal arterial ischemic stroke
- Leader
- Alfredo Garcia-Alix Pérez
- Funding entities:
- Fundació La Marató de TV3
- Code
- 201714.10
- Starting - finishing date:
- 2018 - 2021