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: Alfons Macaya Ruiz

team

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In 2020 the Pediatric Neurology group remained committed to the development and implementation of advanced therapies for Rare Neurological Diseases, including spinal muscular atrophy, thymidine kinase deficiency, metachromatic leukodystrophy, mucopolysaccharidoses and other lysosomal storage disorders. On December 29, VHIR became the first center in the world to include a patient in the Pfizer phase III gene therapy clinical trial for Duchenne Muscular Dystrophy. Our group led the design and development of the Pediatric Neurostimulation Program. This is connected to our research in genetics of primary dystonia which has helped identifying the cases responsive to this revolutionary therapy. Four members of the group are representatives at three European Reference Networks and coordinate working groups thereof. The group is one of the main contributors to Solve-RD project, a European initiative using deep phenotyping and multi-omics to tackle the genetic basis of undiagnosed rare disorders.

29

total

133

impact factor

4^.58

average impact factor

SELECTED ARTICLES

Vanegas MI, Marcé-Grau A, Martí-Sánchez L, Mellid S, Baide-Mairena H, Correa-Vela M, Cazurro A, Rodríguez C, Toledo L, Fernández-Ramos JA, Pons R, Aguilera-Albesa S, Martí MJ, Eiris J, Iglesias G, De Fabregues O, Maqueda E, Garriz-Luis M, Madruga M, Espinós C, Macaya A, Cabrera JC, Pérez-Dueñas B.
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
Parkinsonism Relat Disord. 2020 Nov;80:165-174. Epub 2020 Sep 21.
DOI: 10.1016/j.parkreldis.2020.09.023
IF: 3.926
Correa-Vela M, Lupo V, Montpeyó M, Sancho P, Marcé-Grau A, Hernández-Vara J, Darling A, Jenkins A, Fernández-Rodríguez S, Tello C, Ramírez-Jiménez L, Pérez B, Sánchez-Montáñez Á, Macaya A, Sobrido MJ, Martinez-Vicente M, Pérez-Dueñas B, Espinós C.
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.
Ann Clin Transl Neurol. 2020 Aug;7(8):1436-1442. Epub 2020 Aug 6.
DOI: 10.1002/acn3.51095
IF: 3.806
Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, González-Gutiérrez-Solana L, Correa-Vela M, Ortigoza-Escobar JD, Sánchez-Montañez Á, Vazquez É, Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L, Galosi S, Leuzzi V, Tolve M, Pérez-Gay L, Aldamiz- Echevarría L, Del Toro M, Arranz A, Roelens F, Urreizti R, Artuch R, Macaya A, Pérez-Dueñas B.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
J Inherit Metab Dis. 2021 Mar;44(2):401-414. Epub 2020 Aug 16.
DOI: 10.1002/jimd.12288
IF: 4.036
Alonso-Pérez J, González-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi GP, Dam LT, De Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuß A, Løkken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D’Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andrés D, Munell F, Costa-Comellas L, Haberlová J, Rohlenová M, Elke V, De Bleecker JL, Dominguez-González C, Tasca G, Weiss C, Deconinck N, Fernández-Torrón R, López de Munain A, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernández JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Díaz-Manera J.
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Brain. 2020 Sep 1;143(9):2696-2708.
DOI: 10.1093/brain/awaa228
IF: 11.337
Sala-Coromina J, Miguel LD, de Las Heras J, Lasa-Aranzasti A, Garcia-Arumi E, Carreño L, Arranz JA, Carnicer C, Unceta-Suárez M, Sanchez-Montañez A, Gort L, Tort F, Del Toro M.
Leigh syndrome associated with TRMU gene mutations.
Mol Genet Metab Rep. 2020 Dec 15;26:100690.
DOI: 10.1016/j.ymgmr.2020.100690
IF: 2.020

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