Last Publications
- Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative. CLINICAL GENETICS . 101(5-6): 481-493.
- 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.
- Paredes-Fuentes AJ, Cesar S, Montero-Sanchez R, Latre C, Genovés-Escarre J, Martorell-Sampol L, Cuadras-Palleja D, Colom H, Pineda M, O'Callaghan-Gordo M, Sarquella-Brugada G, Darling A and Artuch-Iriberri R Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up. BIOMEDICINE & PHARMACOTHERAPY . 143: 112143-112143.
Projects
- Project name:
- Caracterización molecular del gen ZNF9 en pacientes con la enfermedad de PROMM o Distrofia Miotónica tipo 2 (DM2). Estudio de la región CCTG inestable y correlación fenotipo-genotipo.
- Leader
- Loreto Martorell Sampol
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- PI03/0865
- Starting - finishing date:
- 2003 - 2006