Neurometabolic diseases
PRINCIPAL INVESTIGATORS
- Stephane Fourcade
- Carlos Casasnovas Pons
CLINICAL RESEARCHERS
- Alejandro Caravaca Puchades
- Leonardo Gregorio Aversa
POSTDOCTORAL RESEARCHERS
- Montserrat Ruíz Sales
- Maria Del Mar Rodriguez Ruiz
- Laura Planas Serra
- Agatha Schlüter Martin
PREDOCTORAL RESEARCHERS
- Moises Morales De La Prida
- Ayelen Artuch Quinteiro
- Lorenzo Torreni
SCIENTIFIC SUPPORT
- Ivan Muñoz Cabello De Alba
- Tamara Noya Mosquera
- Juan Jose Martinez Garcia
- Cristina Guilera Zapater
Neuroscience
Neuroscience
Scientific production
13
PAPERS
Average IF: 7,35
4
LED PAPERS
Average IF: 6,3
6 PUBLICATIONS IN FIRST DECILE
11 PUBLICATIONS IN FIRST QUARTILE
11 PUBLICATIONS IN OPEN ACCESS
Selected publications
- Launay,N;Lopez Erauskin,J;Bianchi,P;Guha,S;Parameswaran,J;Coppa,A;Torreni,L et al, Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy, Brain, 2024;147(6):2069-2084, doi:10.1093/brain/awae038
- Launay,N;Espinosa Alcantud,M;Verdura,E;Fernández Eulate,G;Ondaro,J;Iruzubieta,P;Marsal,M et al, Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia, Aging Cell, 2024;24(1):doi:10.1111/acel.14355
- Mohren,L;Erdlenbruch,F;Leitão,E;Kilpert,F;Hönes,GS;Kaya,S;Schröder,C et al, Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions., Nat Commun, 2024;15(1):7665-7665, doi:10.1038/s41467-024-52148-1
- Nedkova Hristova,V;Donadeu,L;Baliellas,C;González Costello,J;Lladó,L;González Vilatarsana,E;Vélez Santamaría,V et al, Safety, Tolerability, and Outcomes of Tafamidis for the Treatment of Acquired Amyloid Neuropathy in Domino Liver Transplant Recipients, Neurol Ther, 2024;13(4):1069-1080, doi:10.1007/s40120-024-00621-w
- Bellos,E;Santillo,D;Vantourout,P;Jackson,HR;Duret,A;Hearn,H;Seeleuthner,Y et al, Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)., J. Exp. Med., 2024;221(12):doi:10.1084/jem.20240699
Research highlights
PROJECTS
2 Granted competitive projects
14 Ongoing competitive projects
4 Started clinical trials
10 Ongoing clinical trials
PUBLISHED WORKS
1 Clinical guideline
2 Theses
INNOVATION
3 Patents
1 license
NETWORKS
CIBERER
COVIDHGE
AGAUR SGR GRC 2021
IMPaCT-GENóMICA
SCOURGE
Selected projects
- HR24-00788. Brain Inflammation in adrenoleukodystrophy: from drivers to treatments. FUNDACIÓ “LA CAIXA”. Budget: 426.340,78€. 2024-2027. PI: PUJOL ONOFRE, AURORA.
- ICI21/00085. 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.
- PI23/00835. 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.
- 2023-180-1. PRIMER REPOSITORIO DE DATOS DE METILACIÓN DE POBLACIÓN DE REFERENCIA ESPAÑOLA Y MEJORA DEL ESTUDIO EPIGENÉTICO EN PACIENTES CON ENFERMEDADES RARAS NO DIAGNOSTICADOS (EPI-ENOD). Consorcio Centro de Investigación Biomédica en Red, M.P. (CIBER). 2023- . PI: AURORA PUJOL ONOFRE.
- TreatPOLR3A – NHS. TreatPOLR3A: MUTATION-SPECIFIC NATURAL HISTORY STUDY IN POLR3A-ASSOCIATED SPASTIC ATAXIA CAUSED BY THE c.1909+22G>A VARIANT (TreatPOLR3A – NHS). UNIVERSITAET HEIDELBERG. 2027- . PI: AURORA PUJOL ONOFRE.