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, pediatric neurology or neuroimaging

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

Publications

242

total

1850.832

impact factor

7.648

average impact factor

Group Leader: Alfons Macaya

team

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In 2018 we continued interventional clinical trials in spinal muscular atrophy (SMA) and Duchenne muscular dystrophy. We started a new trial with oral oligonucleotide therapy in SMA, and used intrathecal therapy in a presymptomatic SMA-1 patient for the first time in our country. We initiated a retrospective study for TK2 deficiency and a trial for treatment of pantotenate kinase deficiency. We increased our percentage of solved cases of rare neurological diseases to over 50% thanks to implementation of NGS methods. We welcomed 3 new PhD students and 4 PhD theses were presented. We are part of a team seeking a novel strategy for gene delivery in merosin deficiency using in vivo and in vitro models. We organised the symposium “From genome to personalized medicine in pediatric movement disorders” which brought together experts from accross Europe in the field and patient advocacy groups. Scientific dissemination: participation in events promoted by the Myoclonus-Dystonia, SyntaxinBP1 and Nemaline Myopathy foundations, respectively.

26

total

130^.897

impact factor

5^.034

average impact factor

SELECTED ARTICLES

Salpietro V, Perez-Dueñas B, Nakashima K, San Antonio-Arce V, Manole A,
Efthymiou S, Vandrovcova J, Bettencourt C, Mencacci NE, Klein C, Kelly MP, Davies CH, Kimura H*, Macaya A*, Houlden H*.
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
Mov Disord. 2018 Mar;33(3):482-488.
doi: 10.1002/mds.27286.
IF: 8,324
Urbizu A, Martin BA, Moncho D, Rovira A, Poca MA, Sahuquillo J, Macaya A, Español MI.
Machine learning applied to neuroimaging for diagnosis of adult classic Chiari malformation: role of the basion as a key morphometric indicator.
J Neurosurg. 2018 Sep;129(3):779-791.
doi: 10.3171/2017.3.JNS162479.
IF: 4,318
?Marti-Sanchez L, Ortigoza-Escobar JD, Darling A, Villaronga M, Baide H, Molero-Luis M, Batllori M, Vanegas MI, Muchart J, Aquino L, Artuch R, Macaya A, Kurian MA, Dueñas P.
Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system.
Orphanet J Rare Dis. 2018 Jan 30;13(1):28.
doi: 10.1186/s13023-018-0758-x.
IF: 3,607
Pérez-López J, Moltó-Abad M, Muñoz-Delgado C, Morales-Conejo M, Ceberio-Hualde L, Del Toro M.
Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature.
Mol Genet Metab. 2018 Jul;124(3):216-227.
doi: 10.1016/j.ymgme.2018.04.013.
IF: 3,774
Gomez-Andres D, Diaz-Manera J, Alejaldre A, Pulido-Valdeolivas I, Gonzalez-Mera L, Olive M, Vilchez JJ, Lopez de Munain A, Paradas C, Muelas N, Sanchez-Montanez A, Alonso-Jimenez A, Gomez Garcia de la B, Dabaj I, Bonne G, Munell F, Carlier RY, Quijano-Roy S.
Muscle imaging in laminopathies: synthesis study identifies meaningful muscles for follow-up.
Muscle Nerve. 2018 2018 Jul 31.
doi: 10.1002/mus.26312.
IF: 2,496?

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Neurosciences

Overview

Publications

Group Leader: Alfons Macaya

Research Areas