Roser Colomé Roura
Investigador
Professional network profiles
Last Publications
- 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.
- Garcia-Cazorla A, Verdura E, Julià-Palacios NA, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch-Iriberri R, Cousin MA, Pujol A and SHMT2 Working Group Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome. ACTA NEUROPATHOLOGICA . 140(6): 971-975.
- Marta Sanz Palau, López-Sala A, Palacio-Navarro A, Turón M, Callejón L, Sans A, Poo P, Boix Lluch C and Colomé-Roura R Perfil y factores pronósticos en el traumatismo craneoencefálico en la edad pediátrica. REVISTA DE NEUROLOGIA . 70(7): 235-245.
Projects
- 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
- Project name:
- ACADOM_Assegurant la continuïtat assistencial domiciliària
- Leader
- Alessandra Zoccali , Arnau Valls Esteve
- Funding entities:
- Departament de Salut - Generalitat de Catalunya
- Code
- COMRDI15-1-0026
- Starting - finishing date:
- 2016 - 2020
- Project name:
- Estudio de marcadores bioquímicos de la neurotransmisión dopaminérgica y serotoninérgica en relación con alteraciones neurológicas y neuropsicológicas en la fenilcetonuria.
- Leader
- Jaume Campistol Plana
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- PI12/01469
- Starting - finishing date:
- 2013 - 2016