Jaume Campistol Plana
Investigador
Research group
Last Publications
- Campistol-Plana J Epilepsia o trastorno neurológico funcional. Estrategias para el diagnóstico. MEDICINA-BUENOS AIRES . 84 Suppl 3: 69-74.
- Morales-Romero B, Muñoz-Pujol G, Artuch-Iriberri R, Garcia-Cazorla A, O'Callaghan-Gordo M, Sykut-Cegielska J, Campistol-Plana J, Moreno-Lozano PJ, Oud MM, Wevers RA, Lefeber DJ, Esteve-Codina A, Yepez VA, Gagneur J, Wortmann SB, Prokisch H, Ribes A, García-Villoria J and Tort F Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing MOLECULAR GENETICS AND METABOLISM . 142(3): 108511-108511.
- Ribeiro J, Tristan-Noguero A, Martinez-Calvo FF, Ibanez-Mico S, Peña-Segura JL, Ramos-Fernandez JM, Carlos Valera Dávila, O'Callaghan-Gordo M, Campistol-Plana J, Serrano M, Xenia Alonso, Illescas KS, Ramírez-Camacho A, Sans-Capdevila O, Garcia-Cazorla A, Bayés A and Alonso-Colmenero I Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy Frontiers in Cell and Developmental Biology . 12: 1321282-1321282.
Projects
- Project name:
- SGR 2022-2024_Precision Medicine of Genetic and Rare Diseases (PrecisionRare)
- Leader
- Francesc Palau Martínez
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2021 SGR 01610
- Starting - finishing date:
- 2022 - 2025
- Project name:
- Grup de Recerca en Neurociències Pediàtriques
- Leader
- Francesc Palau Martínez
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2017 SGR 1308
- Starting - finishing date:
- 2017 - 2021
- Project name:
- El modelo de genómica clínica - genómica funcional en la innovación diagnóstica de las enfermedades neurogenéticas (Genomiclnnova)
- Leader
- Francesc Palau Martínez
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- DTS16/00196
- Starting - finishing date:
- 2017 - 2018