Neurometabolic diseases
PRINCIPAL INVESTIGATORS
- Stephane Fourcade
- Carlos Casasnovas Pons
POSTDOCTORAL RESEARCHERS
- Montserrat Ruíz Sales
- Maria Del Mar Rodriguez Ruiz
- Agatha Schlüter Martin
PREDOCTORAL RESEARCHERS
- Laura Planas Serra
- Lorenzo Torreni
- Ayelen Artuch
SCIENTIFIC SUPPORT
- Ivan Muñoz Cabello De Alba
- Juan Jose Martinez Garcia
- Cristina Guilera Zapater
Neuroscience
Neuroscience
Scientific production
22
PAPERS
Average IF: 18,001
5
LED PAPERS
Average IF: 10,54
13 PUBLICATIONS IN FIRST DECILE
17 PUBLICATIONS IN FIRST QUARTILE
16 PUBLICATIONS IN OPEN ACCESS
Selected publications
- Al Hakem,H;Doets,AY;Stino,AM;Zivkovic,SA;Andersen,H;Willison,HJ;Cornblath,DR et al, CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barre Syndrome, Neurology, 2023;100(23):2386-2397, doi:10.1212/WNL.0000000000207282
- Schlüter,A;Vélez Santamaría,V;Verdura,E;Rodríguez Palmero,A;Ruiz,M;Fourcade,S;Planas Serra,L et al, ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization, Genome Med., 2023;15(1):doi:10.1186/s13073-023-01214-2
- Weinhofer,I;Rommer,P;Gleiss,A;Ponleitner,M;Zierfuss,B;Waidhofer Soellner,P;Fourcade,S et al, Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy, EBioMedicine, 2023;96104781-104781, doi:10.1016/j.ebiom.2023.104781
- Schlüter,A;Vélez Santamaría,V;Verdura,E;Rodríguez Palmero,A;Ruiz,M;Fourcade,S;Planas Serra,L et al, ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization, Genome Med., 2023;15(1):doi:10.1186/s13073-023-01214-2,
- Ortega Suero,G;Abenza Abildúa,MJ;Serrano Munuera,C;Rouco Axpe,I;Arpa Gutiérrez,FJ;Adarmes Gómez,AD;Rodríguez de Rivera,FJ et al, Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study., Neurologia, 2023;38(6):379-386, doi:10.1016/j.nrleng.2023.04.003
Research highlights
PROJECTS
5 Granted competitive projects
13 Ongoing competitive projects
2 Started clinical trials
9 Ongoing clinical trials
2 Ongoing non competitive projects
PUBLISHED WORKS
1 Clinical guideline
INNOVATION
3 Patents
1 license
NETWORKS
CIBERER
COVIDHGE
AGAUR SGR GRC
IMPaCT-GENóMICA
SCOURGE
Selected projects
- FIS21127. Medicina multi-ómica para la comprensión de la adrenomieloneuropatía: estudio aleatorizado de fase IIb / III controlado con placebo para el estudio clínico y molecular de la acción del dimetilfumarato. Instituto de Salud Carlos III (ISCIII). Budget: 898.700€. 2022-2025. PI: PUJOL ONOFRE, AURORA.
- USA21002. Immunologic and Predictive Features of MIS-C. NATIONAL INSTITUTES OF HEALTH NIH. Budget: 167.601,58€. 2022-2024. PI: PUJOL ONOFRE, AURORA.
- CEE21013. UNDINE: The human genetic and immunological determinants of the clinical manifestations of SARS-CoV-2 infection: Towards personalised medicine. COMISSIÓ EUROPEA. Budget: 77.353,75€. 2022-2026. PI: PUJOL ONOFRE, AURORA.
- FIS23013. Identificación de los desencadenantes y mecanismos moleculares de la inflamación cerebral en adrenoleucodistrofia. Instituto de Salud Carlos III (ISCIII). Budget: 315.000€. 2024-2026. PI: PUJOL ONOFRE, AURORA.
21FIS012. Optimización del diagnóstico genético de paraparesias espásticas hereditarias y ataxias hereditarias mediante análisis del genoma long-read, transcriptoma, y genómica funcional. Instituto de Salud Carlos III (ISCIII). Budget: 205.700€. 2021-2023. PI: CASASNOVAS PONS, CARLOS.