Neurosciences

Overview

The Neuroscience area is consolidating its position as one of the largest clusters of research labs working on neurological diseases across Europe. Thirteen groups are currently part of this area, working closely with top clinicians at the hospital. The area encompasses different aspects related to neuroscience, such as neural development, neurodegeneration, neuroimmunology, neurological pain, mental health, neurosurgery or pediatric neurology.

There are groups also focused on cell signaling and apoptosis and translational bioinformatics.

Publications

183

total

815.974

impact factor

4.459

average impact factor

Director: Alfons Macaya

team

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During 2017 we remained involved in three European Reference Networks (ERNs): Rare Neurological Disorders (ERN-RND), Metabolic Disorders (MetabERN) and Neuromuscular Disorders (EuroNMD). We are active members of 3 European COST actions: Myo-MRI, Clinical application of antisense-mediated exon skipping and Network on Brain Malformations, and consortia on synaptopathies and headache genetics. Clinical trials in 2017 targeted severe genetic disorders such as spinal muscular atrophy, Duchenne’s muscular dystrophy, Niemann-Pick type C and Sanfilippo’s diseases and GLUT1 deficiency. Two doctoral theses were read: D. Gómez Andrés, now an independent investigator, and S. Boronat. In November, 2017 Belén Pérez Dueñas, a PI with a strong track in clinical research in the field of pediatric movement disorders, joined the group to strengthen clinical and basic research in neurogenetics.
We organized a symposium on Respiratory problems in Chronic Neurological Diseases. We coordinated a work package of the Undiganosed Rare Disease Program of Catalonia, where 500+ individuals with ultrarare diseases were sequenced and are being analyzed.

16

total

51^.588

impact factor

3^.224

average impact factor

SELECTED ARTICLES

Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
Wambach JA, Stettner GM, Haack TB, Writzl K, Škofljanec A, Maver A, Munell F, Ossowski S, Bosio M, Wegner DJ, Shinawi M, Baldridge D, Alhaddad B, Strom TM, Grange DK, Wilichowski E, Troxell R, Collins J, Warner BB, Schmidt RE, Pestronk A, Cole FS, Steinfeld R. Hum Mutat.
2017 Nov;38(11):1477-1484.
doi: 10.1002/humu.23297.
Epub 2017 Aug 17.
PubMed PMID: 28726266
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.
Darling A, Tello C, Martí MJ, Garrido C, Aguilera-Albesa S, Tomás Vila M, Gastón I, Madruga M, González Gutiérrez L, Ramos Lizana J, Pujol M, Gavilán Iglesias T, Tustin K, Lin JP, Zorzi G, Nardocci N, Martorell-Sampol L, Lorenzo Sanz G, Gutiérrez F, García PJ, Vela L, Hernández Lahoz C, Ortigoza-Escobar JD, Marti-Sanchez L, Moreira F, Coelho M, Correia Guedes L, Castro Caldas A, Ferreira J, Pires P, Costa C, Rego P, Magalhães M, Stamelou M, Cuadras-Palleja D, Rodríguez-Blazquez C, Martínez-Martín P, Lupo V, Stefanis L, Pons R, Espinós C, Temudo T, Pérez-Dueñas B.
Mov Disord. 2017, Nov;32(11):1620-1630.
doi: 10.1002/mds.27129. Epub 2017 Aug 28.
PubMed PMID: 28845923.
IF: 7,072
Transcriptomic Changes in Rat Cortex and Brainstem After Cortical Spreading Depression With or Without Pretreatment With Migraine Prophylactic Drugs.
Sintas C, Fernàndez-Castillo N, Vila-Pueyo M, Pozo-Rosich P, Macaya A, Cormand B. J Pain.
2017 Apr;18(4):366-375.
doi: 10.1016/j.jpain.2016.11.007.
Epub 2016 Dec 3.
PubMed PMID: 27919769.
Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.
Sintas C, Carreño O, Fernàndez-Castillo N, Corominas R, Vila-Pueyo M, Toma C, Cuenca-León E, Barroeta I, Roig C, Volpini V, Macaya A, Cormand B. Sci Rep.
2017 May 31;7(1):2514.
doi: 0.1038/s41598-017-02554-x.
PubMed PMID: 28566750
PubMed Central PMCID: PMC5451382.
Thiamine Deficiency Study Group. Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors. Ann Neurol.
Ortigoza-Escobar JD, Alfadhel M, Molero-Luis M, Darin N, Spiegel R, de Coo IF, Gerards M, Taylor RW, Artuch R, Nashabat M, Rodríguez-Pombo P, Tabarki B, Pérez-Dueñas B
2017 Sep;82(3):317-330.
doi: 10.1002/ana.24998.
IF: 9,890

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Neurosciences

Overview

Publications

Director: Alfons Macaya

Research Areas