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

276

total

1952

impact factor

7.07

average impact factor

Group Leader: Ramon Martí Seves

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Over the year 2019, our group has published a collaborative multicenter work reporting the positive results of a new treatment proposed by us for a devastating rare disorder, TK2 deficiency (Domínguez-González et al, Ann Neurol 2019). This is an example of a translational outcome from our research over the last years, which has ended up in the development of a clinical trial (NCT03845712) sponsored by the company which has licensed our 2 currently active patents. As a result of this treatment-oriented research line, two additional publications aimed to better understand the mechanism of action of the treatment and to extend it to other diseases have been also published (Blázquez-Bermejo, FEBS J and EBioMedicine).

10

total

55

impact factor

5^.46

average impact factor

SELECTED ARTICLES

Blázquez-Bermejo C, Carreño-Gago L, Molina-Granada D, Aguirre J, Ramón J, Torres-Torronteras J, Cabrera-Pérez R, Martín MÁ, Domínguez-González C, de la Cruz X, Lombès A, García-Arumí E, Martí R, Cámara Y.
Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.
FASEB J. 2019 Jun; 33(6):7168-7179.
DOI: 10.1096/fj.201801591R.
IF: 5.391
Real-Martinez A, Brull A, Huerta J, Tarrasó G, Lucia A, Martin MA, Arenas J, Andreu AL, Nogales-Gadea G, Vissing J, Krag TO, de Luna N, Pinós T.
Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model.
Sci Rep. 2019 Mar; 9(1):5116.
DOI: 10.1038/s41598-019-41414-8.
IF: 4.011
Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJ, Donati MA, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento A, Kalko SG, Sardina MD, Álvarez Del Vayo C, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C, Hirano M.
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Ann Neurol. 2019 Aug; 86(2):293-303.
DOI: 10.1002/ana.25506.
IF: 9.496
Blázquez-Bermejo C, Molina-Granada D, Vila-Julià F, Jiménez-Heis D, Zhou X, Torres-Torronteras J, Karlsson A, Martí R, Cámara Y.
Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient mice.
EBioMedicine. 2019 Aug; 46:342-355.
DOI: 10.1016/j.ebiom.2019.07.042.
IF: 6.68
Cabrera-Pérez R, Vila-Julià F, Hirano M, Mingozzi F, Torres-Torronteras J, Martí R.
Alpha-1-Antitrypsin Promoter Improves the Efficacy of an Adeno-Associated Virus Vector for the Treatment of Mitochondrial Neurogastrointestinal Encephalomyopathy.
Hum Gene Ther. 2019 Aug; 30(8):985-998.
DOI: 10.1089/hum.2018.217.
IF: 3.855

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