Neurometabolic diseases
PRINCIPAL INVESTIGATORS
- Stephane Fourcade
- Carlos Casasnovas Pons
POSTDOCTORAL RESEARCHERS
- Montserrat Ruiz Sales
- Agatha Schlüter Martin
- Katrin Gisela Blondrath
- Laia Lidon Gil
PREDOCTORAL RESEARCHERS
- Laura Planas Serra
- Agustí Rodríguez-Palmero Seuma
- Patricia Valentina Velez Santamaria
- Lorenzo Torreni
- Ayelen Artuch
SCIENTIFIC SUPPORT
- Juan Jose Martinez Garcia
- Cristina Guilera Zapater
- Aina Roig Villalonga
Neuroscience
Neuroscience
Scientific production
32
PAPERS
Average IF: 13,106
8
LED PAPERS
Average IF: 11,385
17 PUBLICATIONS IN FIRST DECILE
26 PUBLICATIONS IN FIRST QUARTILE
27 PUBLICATIONS IN OPEN ACCESS
Selected publications
- Davalos,V;García Prieto,CA;Ferrer,G;Aguilera Albesa,S;Valencia Ramos,J;Rodríguez Palmero,A;Ruiz,M et al, Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study., EClinicalMedicine, 2022;50101515-101515, doi:10.1016/j.eclinm.2022.101515,
- Parameswaran,J;Goicoechea,L;Planas Serra,L;Pastor,A;Ruiz,M;Calingasan,NY;Guilera,C et al, Activating cannabinoid receptor 2 preserves axonal health through GSK-3ß/NRF2 axis in adrenoleukodystrophy., Acta Neuropathol., 2022;144(2):241-258, doi:10.1007/s00401-022-02451-2,
- Schlüter,A;Rodríguez Palmero,A;Verdura,E;Vélez Santamaría,V;Ruiz,M;Fourcade,S;Planas Serra,L et al, Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization., Neurology, 2022;98(9):912-923, doi:10.1212/WNL.0000000000013278
- Ranea Robles,P;Galino,J;Espinosa,L;Schluter,A;Ruiz,M;Calingasan,NY;Villarroya,F et al, Modulation of mitochondrial and inflammatory homeostasis through RIP140 is neuroprotective in an adrenoleukodystrophy mouse model, Neuropathol. Appl. Neurobiol., 2022;48(1):doi:10.1111/nan.12747
- Verdura,E;Senger,B;Raspall Chaure,M;Schluter,A;Launay,N;Ruiz,M;Casasnovas,C et al, Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence, J. Med. Genet., 2022;59(12):1227-1233, doi:10.1136/jmg-2022-108529
Research highlights
PROJECTS
4 Granted competitive projects
12 Ongoing competitive projects
3 Started clinical trials
13 Ongoing clinical trials
1 Ongoing non competitive projects
PUBLISHED WORKS
2 theses
INNOVATION
2 Patents
1 license
NETWORKS
CIBERER
COVIDHGE
AGAUR SGR GRC
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: 898700. 2022-2025. PI: Pujol Onofre, Aurora.
- USA21002. Immunologic and Predictive Features of MIS-C. NATIONAL INSTITUTES OF HEALTH NIH. Budget: 205381,76. 2022-2027. 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: 77353,75. 2022-2026. PI: Pujol Onofre, Aurora.
- 21FIS032. Descrifrando la expresión variable de la adrenoleucodistrofia: hacia la medicina a través de multi-ómicas y organoides cerebrales. Instituto de Salud Carlos III (ISCIII). Budget: 304315. 2021-2023. PI: Pujol Onofre, Aurora.
- FIS22017. Metabolitos derivados del intestino como factor modificador de la severidad de la adrenoleucodistofia ligada al X. Instituto de Salud Carlos III (ISCIII). Budget: 122815. 2023-2025. PI: Fourcade, Stéphane.