Neurosciences

Overview

The Neuroscience area is consolidating its position as one of the largest clusters of research labs working on neurological diseases across Europe. At present, the area comprises 14 groups with more than one hundred fully dedicated researchers in close contact with top clinicians in the hospital. These research groups pursue a better and multifaceted understanding of the etiopathogenic mechanisms underlying a large variety of mostly adult but also pediatric neurological disorders including stroke, multiple sclerosis, Alzheimer’s disease, Parkinson’s disease, primary headaches, epilepsy, neuromuscular disorders, and also neurosurgical and psychiatric pathologies. The area also integrates groups involved in neuroimaging, analysis and interpretation of high-throughput data, and gene therapy strategies to target inflammatory and neurodegenerative neurological conditions.

Publications

316

total

1898

impact factor

6.01

average impact factor

Group Leader: Ramon Martí Seves

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Over the year 2020 our group has reported that gene therapy may improve some neuromotor dysfunctional features observed in an animal model with enhanced phenotype that resemble clinical symptoms of patients with mitochondrial neurogastrointestinal encephalomyopathy, MNGIE (Vila Julià et al, EBioMedicine 2020). We have also reported that the read-through strategy cannot be observed for the most frequent mutation in McArdle Disease (Tarrasó et al, Dis Model Mech, 2020). In addition, we have reported two articles with the first achievements obtained from the Euromac Registry (http://www.euromacregistry.eu), an international project coordinated by us (Pinós et al, and Scalco et al, Orphanet J Rare Dis 2020), and compiled the current available anima l models for this disease (Almodovar-Paya et al, Int J Mol Sci 2020).

11

total

48

impact factor

4^.32

average impact factor

SELECTED ARTICLES

Vila-Julià F, Cabrera-Pérez R, Cámara Y, Molina-Berenguer M, Lope-Piedrafita S, Hirano M, Mingozzi F, Torres-Torronteras J, Martí R.
Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides.
EBioMedicine. 2020 Dec;62:103133.
DOI: 10.1016/j.ebiom.2020.103133
IF: 5.736
Pinós T, Andreu AL, Bruno C, Hadjigeorgiou GM, Haller RG, Laforêt P, Lucía A, Martín MA, Martinuzzi A, Navarro C, Oflazer P, Pouget J, Quinlivan R, Sacconi S, Scalco RS, Toscano A, Vissing J, Vorgerd M, Wakelin A, Martí R; EUROMACConsortium.
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).
Orphanet J Rare Dis. 2020 Oct 15;15(1):187.
DOI: 10.1186/s13023-020-01455-z
IF: 3.523
Scalco RS, Lucia A, Santalla A, Martinuzzi A, Vavla M, Reni G, Toscano A, Musumeci O, Voermans NC, Kouwenberg CV, Laforêt P, San-Millán B, Vieitez I, Siciliano G, Kühnle E, Trost R, Sacconi S, Stemmerik MG, Durmus H, Kierdaszuk B, Wakelin A, Andreu AL, Pinós T, Marti R, Quinlivan R, Vissing J, EUROMAC Consortium.
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).
Orphanet J Rare Dis. 2020 Nov 24;15(1):330.
DOI: 10.1186/s13023-020-01562-x
IF: 3.523
Tarrasó G, Real-Martinez A, Parés M, Romero-Cortadellas L, Puigros L, Moya L, de Luna N, Brull A, Martín MA, Arenas J, Lucia A, Andreu AL, Barquinero J, Vissing J, Krag TO, Pinós T.
Absence of p.R50X Pygm read-through in McArdle disease cellular models.
Dis Model Mech. 2020 Jan 13;13(1):dmm043281.
DOI: 10.1242/dmm.043281
IF: 4.651
Almodóvar-Payá A, Villarreal-Salazar M, de Luna N, Nogales-Gadea G, Real-Martínez A, Andreu AL, Martín MA, Arenas J, Lucia A, Vissing J, Krag T, Pinós T.
Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models.
Int J Mol Sci. 2020 Dec 17;21(24):9621.
DOI: 10.3390/ijms21249621
IF: 4.556

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