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Pediatric Neurology

The Pediatric Neurology Research group is mainly involved in the study of genetic diseases of the developing nervous system. The main emphasis is on paroxysmal neurological disorders and neuromuscular disorders. A common theme across the different projects, besides the identification of the molecular basis of several of these rare disorders, is the investigation of molecules involved in their pathophysiological mechanisms and the effective translation of these findings into the fields of molecular diagnosis, genetic counselling and newly developed gene or drug therapies.

Team

Belen Perez Dueñas

Belen Perez Dueñas

Main researcher
Pediatric Neurology
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Mireia del Toro Riera

Mireia del Toro Riera

Pediatric Neurology
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Ana Felipe Rucián

Ana Felipe Rucián

Predoctoral researcher
Pediatric Neurology
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David Gómez  Andrés

David Gómez Andrés

Postdoctoral researcher
Pediatric Neurology
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Edgar Verdura Peralta

Edgar Verdura Peralta

Postdoctoral researcher
Pediatric Neurology
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Leal Roca, Nuria

Leal Roca, Nuria

Research technician
Pediatric Neurology
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Belen Perez Dueñas

Belen Perez Dueñas

Main researcher
Pediatric Neurology
Read more
Mireia del Toro Riera

Mireia del Toro Riera

Pediatric Neurology
Read more
Ana Felipe Rucián

Ana Felipe Rucián

Predoctoral researcher
Pediatric Neurology
Read more
David Gómez  Andrés

David Gómez Andrés

Postdoctoral researcher
Pediatric Neurology
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Edgar Verdura Peralta

Edgar Verdura Peralta

Postdoctoral researcher
Pediatric Neurology
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Leal Roca, Nuria

Leal Roca, Nuria

Research technician
Pediatric Neurology
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Research lines

Pediatric neurogenetics

Neurogenetics of paroxysmal neurological disorders (neuronal channelopathies)

Genetic and epigenetic basis of neural tube defects and Chiari type I malformation 

Clinical researchers have collected samples from more than 2000 patients with paroxysmal neurological disorders (migraine, epilepsy, paroxysmal movement disorders and episodic ataxias) and over 300 patients with Chiari I malformation. Current strategies include whole-genome linkage analysis, exome sequencing, customized array re-sequencing, SNP-based genetic association studies and expression analysis in fetal tissues. The goals in this area are:


- to identify novel genetic variants responsible for these diseases

- to establish a correlation between the genetic variants and the clinical forms of the disease

- to perform functional studies of the mutant proteins

- to design an animal model of cortical spreading depression, with emphasis in epigenetic modification of susceptibility genes.


IP: Macaya Ruíz, Alfons

Pediatric Neuromuscular Disorders

1. DUCHENNE MUSCULAR DYSTROPHY (DMD)

THERAPEUTIC POTENTIAL OF ESTROGENS IN DMD, EFFECTS AND MECHANISMS OF ACTION ON SATELLITE CELLS AND MACROPHAGES

We have found that estradiol has beneficial effects on myogenesis and inflammation. We aim to characterize the estradiol effects on satellite cells and their interaction with macrophages and the ability of estrogens to increase the efficiency of cell therapy based on satellite cell transplant to restore the expression of dystrophin in the dystrophic muscle in vivo.


IN VITRO TESTING OF GENE THERAPIES TO REPAIR DYSTROPHIN IN HUMAN MYOBLASTS AND DEVELOPMENT OF NANIOPARTICLES FOR MUSCLE DELIVERY

Compounds with readthrough activity are currently used for DMD patients with nonsense mutations with highly variable results. We are testing the efficacy of several drugs with read-through action (PTC124, RTC14, RTC13, Geneticin) to restore protein levels in myoblasts and differentiated myotubes obtained from DMD patients carrying nonsense mutations with variable codon composition and different location.

We are testing the possibility to use modified nanopaticles for muscle delivery of specific drugs.


2. USE OF NEW TECHNOLOGIES FOR DIAGNOSTIC OPTIMISATION IN INHERITED MYOPATHIES

We used exome capture and massive sequencing technologies for the diagnosis of patients with neuromuscular disorders, to deliver a proof-of-concept of the superior diagnostic accuracy, speed and costeffectiveness of these novel technologies over current approaches.

IP: Munell Casadesus, Francina

Projects

Neurologia infantil

IP: Macaya Ruíz, Alfons
Collaborators: Neurologia infantil, Ventura i Expósito, Laia, Perez Dueñas, Belen, Costa Comellas, Laura, Munell Casadesus, Francina, Raspall Chaure, Miquel, Toro Riera, Mireia del, Felipe Rucián, Ana, Cazurro Gutierrez, Ana Laura, Gómez Andrés, David, Dougherty de Miguel, Lucy
Funding agency: AGAUR no fer servir-correcte 4301-37
Funding: 0.01
Reference: 2021 SGR 01171
Duration: 01/01/2022 - 31/12/2024

Distrofia muscular congénita tipo 1A: inhibición de la fibrosis y corrección mediante edición génica

IP: Barquinero Mañez, Jordi
Collaborators: Costa Comellas, Laura, Munell Casadesus, Francina, Gómez Andrés, David, Piñera Moreno, Rocío
Funding agency: Instituto de Salud Carlos III
Funding: 117370
Reference: PI22/01027
Duration: 01/01/2023 - 31/12/2025

Análisis genético y molecular de la distonía mioclónica

IP: Perez Dueñas, Belen
Collaborators: Cazurro Gutierrez, Ana Laura, Álvarez González, Judit
Funding agency: AGAUR no fer servir-correcte 4301-37
Funding: 64425.41
Reference: AGAUR/BEQUESFIPREDOC/2022/CAZURRO
Duration: 01/04/2022 - 31/03/2025

Desarrollo de una nueva estrategia de terapia génica y adecuación de una cohorte de pacientes para ensayos clínicos en distrofia muscular congénita por déficit de merosina

IP: Barquinero Mañez, Jordi
Collaborators: Munell Casadesus, Francina, Toro Tamargo, Esther
Funding agency: Instituto de Salud Carlos III
Funding: 139150
Reference: PI19/00295
Duration: 01/01/2020 - 30/06/2024

Publications

Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases.

PMID: 36909454
Journal: Molecular Genetics and Metabolism Reports
Year: 2023
Reference: Mol Genet Metab Rep. 2023 Jun;35:100962. doi: 10.1016/j.ymgmr.2023.100962. Epub 2023 Mar 6.
Impact factor:
Publication type: Paper in international publication
Authors: Cortes-Saladelafont, Elisenda; Del Mar Martinez-Colls, Maria; Del Toro Riera, Mireia; Felipe-Rucian, Ana; Giralt-Lopez, Maria; Gonzalez-Alvarez, Pablo; Graterol Torres, Fredzzia; Ibanez-Mico, Salvador; Joaquin, Clara; Lopez-Laso, Eduardo et al.
DOI: 10.1016/j.ymgmr.2023.100962

Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics.

PMID: 37205244
Journal: Movement Disorders Clinical Practice
Year: 2023
Reference: Mov Disord Clin Pract. 2023 Apr 4;10(5):748-755. doi: 10.1002/mdc3.13728. eCollection 2023 May.
Impact factor:
Publication type: Review in international publication
Authors: Batla, Amit; Ben-Pazi, Hilla; Cosentino, Carlos; Dale, Russell C; Ebrahimi-Fakhari, Darius; Friedman, Jennifer; Fung, Victor S C; Hoshino, Kyoko; Kurian, Manju A; Lin, Jean-Pierre et al.
DOI: 10.1002/mdc3.13728

Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.

PMID: 37443087
Journal: Orphanet Journal of Rare Diseases
Year: 2023
Reference: Orphanet J Rare Dis. 2023 Jul 13;18(1):188. doi: 10.1186/s13023-023-02793-4.
Impact factor:
Publication type: Letter or abstract
Authors: Argudo, Ana; Arranz, Jose Antonio; Artuch, Rafael; Carnicer, Clara; de Aledo-Castillo, Jose Manuel Gonzalez; de Los Santos, Mariela Mercedes; Fernandez, Rosa; Garcia-Cazorla, Angeles; Garcia-Villoria, Judit; Garcia-Volpe, Camila et al.
DOI: 10.1186/s13023-023-02793-4

Teaching NeuroImage: Paraneoplastic Cerebellar Degeneration and Antibodies to TRIM 9 and 67 Secondary to Melanoma.

PMID: 37580164
Journal: NEUROLOGY
Year: 2023
Reference: Neurology. 2023 Aug 14:10.1212/WNL.0000000000207702. doi: 10.1212/WNL.0000000000207702.
Impact factor:
Publication type: Paper in international publication
Authors: Auger, Cristina; Gonzalez, Victoria; Martinez-Saez, Elena; Naranjo, Laura; Ruiz-Garcia, Raquel; Vilaseca, Andreu et al.
DOI: 10.1212/WNL.0000000000207702

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.

PMID: 34942136
Journal: LANCET NEUROLOGY
Year: 2022
Reference: Lancet Neurol. 2022 Jan;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7.
Impact factor: 44.182
Publication type: Paper in international publication
Authors: Goemans, Nathalie; Mercuri, Eugenio; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile et al.
DOI: 10.1016/S1474-4422(21)00367-7

Genetic diagnosis of basal ganglia disease in childhood.

PMID: 34988976
Journal: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Year: 2022
Reference: Dev Med Child Neurol. 2022 Jun;64(6):743-752. doi: 10.1111/dmcn.15125. Epub 2022 Jan 5.
Impact factor: 5.449
Publication type: Paper in international publication
Authors: Baide-Mairena, Heidy; Marti-Sanchez, Laura; Marce-Grau, Anna; Cazurro-Gutierrez, Ana; Sanchez-Montanez, Angel; Delgado, Ignacio; Moreno-Galdo, Antonio; Macaya-Ruiz, Alfons; Garcia-Arumi, Elena; Perez-Duenas, Belen et al.
DOI: 10.1111/dmcn.15125

Headache and Vomiting in an 8-Year-Old Girl.

PMID: 35766460
Journal: CLINICAL PEDIATRICS
Year: 2022
Reference: Clin Pediatr (Phila). 2022 Jun 29:99228221106429. doi: 10.1177/00099228221106429.
Impact factor: 1.168
Publication type: Paper in international publication
Authors: Erika, Arno; Alfons, Macaya; Ignacio, Delgado-Alvarez; Ana, Felipe-Rucian; Jorgina, Vila; Duna, Casadesus-Cabral et al.
DOI: 10.1177/00099228221106429

Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3.

PMID: 35766882
Journal: HUMAN MOLECULAR GENETICS
Year: 2022
Reference: Hum Mol Genet. 2022 Jun 29. pii: 6619440. doi: 10.1093/hmg/ddac146.
Impact factor: 6.15
Publication type: Paper in international publication
Authors: Espinos, Carmen; AIguilera-Albesa, Sergio; Fazzari, Pietro; Perez-Duenas, Belen; Hernandez, Alberto; Soriano-Navarro, Mario; Jenkins, Alison; Marco-Marin, Clara; Miquel-Leal, Javier; Gorria-Redondo, Nerea et al.
DOI: 10.1093/hmg/ddac146

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

PMID: 34415322
Journal: BRAIN
Year: 2021
Reference: Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124.
Impact factor: 13.501
Publication type: Paper in international publication
Authors: Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schluter, Agatha, Rouvet, Isabelle, Sala-Coromina, Julia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marce-Grau, Anna et al.
DOI: 10.1093/brain/awab124

Muscarinic Acetylcholine Receptor M1 mutations causing neurodevelopmental disorder and epilepsy.

PMID: 34212451
Journal: HUMAN MUTATION
Year: 2021
Reference: Hum Mutat. 2021 Oct;42(10):1215-1220. doi: 10.1002/humu.24252. Epub 2021 Jul 10.
Impact factor: 4.878
Publication type: Paper in international publication
Authors: Marce-Grau, Anna, Elorza-Vidal, Xabier, Perez-Rius, Carla, Ruiz-Nel Lo, Anna, Sala-Coromina, Julia, Estevez, Raul, Macaya, Alfons, Gabau, Elisabet et al.
DOI: 10.1002/humu.24252

Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.

PMID: 33200489
Journal: MOVEMENT DISORDERS
Year: 2021
Reference: Mov Disord. 2021 Jun;36(6):1342-1352. doi: 10.1002/mds.28392. Epub 2020 Nov 16.
Impact factor: 10.338
Publication type: Paper in international publication
Authors: Klopstock, Thomas, Videnovic, Aleksandar, Bischoff, Almut Turid, Bonnet, Cecilia, Cif, Laura, Greblikas, Feriandas, Burns, Colleen, Comella, Cynthia, Correa-Vela, Marta, Escolar, Maria L et al.
DOI: 10.1002/mds.28392

Dystonia Management: What to Expect From the Future? The Perspectives of Patients and Clinicians Within DystoniaNet Europe.

PMID: 34149592
Journal: Frontiers in Neurology
Year: 2021
Reference: Front Neurol. 2021 Jun 3;12:646841. doi: 10.3389/fneur.2021.646841. eCollection 2021.
Impact factor: 4.003
Publication type: Review in international publication
Authors: Albanese, Alberto, Benson, Monika, Edwards, Mark J, Graessner, Holm, Hutchinson, Michael, Jech, Robert, Krauss, Joachim K, Morgante, Francesca, Perez Duenas, Belen, Reilly, Richard B et al.
DOI: 10.3389/fneur.2021.646841

Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.

PMID: 33629063
Journal: Brain communications
Year: 2020
Reference: Brain Commun. 2020 Oct 26;2(2):fcaa178. doi: 10.1093/braincomms/fcaa178. eCollection 2020.
Impact factor: 0
Publication type: Paper in international publication
Authors: Livingston, John, Kurian, Manju, Chong, W Kling, Dale, Russell C, Hayflick, Susan, Wassmer, Evangeline, Webster, Richard I, Prelog, Kristina, Mohammad, Shekeeb S, Biggin, Andrew et al.
DOI: 10.1093/braincomms/fcaa178

The European Reference Network for Rare Neurological Diseases.

PMID: 33519696
Journal: Frontiers in Neurology
Year: 2020
Reference: Front Neurol. 2021 Jan 14;11:616569. doi: 10.3389/fneur.2020.616569. eCollection 2020.
Impact factor: 2.889
Publication type: Review in international publication
Authors: Krageloh-Mann, Ingeborg, Landwehrmeyer, G Bernhard, Leber, Isabelle, Macaya, Alfons, Mariotti, Caterina, Meissner, Wassilios G, Molnar, Maria Judit, Nonnekes, Jorik, Ortigoza Escobar, Juan Dario, Perez Duenas, Belen et al.
DOI: 10.3389/fneur.2020.616569

Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.

PMID: 33182294
Journal: Journal of Clinical Medicine
Year: 2020
Reference: J Clin Med. 2020 Nov 9;9(11). pii: jcm9113603. doi: 10.3390/jcm9113603.
Impact factor: 3.303
Publication type: Paper in international publication
Authors: Baz-Redon, Noelia, Rovira-Amigo, Sandra, Fernandez-Cancio, Monica, Castillo-Corullon, Silvia, Cols, Maria, Caballero-Rabasco, M Araceli, Asensio, Oscar, Martin de Vicente, Carlos, Martinez-Colls, Maria Del Mar, Torrent-Vernetta, Alba et al.
DOI: 10.3390/jcm9113603

Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases.

PMID: 33106568
Journal: Scientific Reports
Year: 2020
Reference: Sci Rep. 2020 Oct 26;10(1):18291. doi: 10.1038/s41598-020-75500-z.
Impact factor: 3.998
Publication type: Paper in international publication
Authors: Molero-Luis, Marta, Casas-Alba, Didac, Orellana, Gabriela, Ormazabal, Aida, Sierra, Cristina, Oliva, Clara, Valls, Anna, Velasco, Jesus, Launes, Cristian, Cuadras, Daniel et al.
DOI: 10.1038/s41598-020-75500-z

Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients.

PMID: 31745482
Journal: Movement disorders clinical practice
Year: 2019
Reference: Mov Disord Clin Pract. 2019 Oct 25;6(8):704-707. doi: 10.1002/mdc3.12842. eCollection 2019 Nov.
Impact factor: 0
Publication type: Letter or abstract
Authors: Martins, Joana, Darling, Alejandra, Espinos, Carmen, Marti, Maria Jose, Duenas, Belen Perez, Temudo, Teresa, Garrido, Cristina et al.
DOI: 10.1002/mdc3.12842

Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics and functional studies.

PMID: 31095747
Journal: JOURNAL OF INHERITED METABOLIC DISEASE
Year: 2019
Reference: J Inherit Metab Dis. 2019 Jul;42(4):581-597. doi: 10.1002/jimd.12125. Epub 2019 Jun 24.
Impact factor: 4.287
Publication type: Review in international publication
Authors: Perez-Duenas, Belen, Marce-Grau, Anna, Marti-Sanchez, Laura, Baide-Mairena, Heidy, Ortigoza-Escobar, Juan Dario et al.
DOI: 10.1002/jimd.12125

The FOsmetpantotenate Replacement Therapy (FORT) Randomized, Double-Blind, Placebo-Controlled Pivotal Trial: Study Design and Development Methodology of a Novel Primary Efficacy Outcome in Patients With Pantothenate Kinase-Associated Neurodegeneration.

PMID: 31055958
Journal: Clinical Trials
Year: 2019
Reference: Clin Trials. 2019 Aug;16(4):410-418. doi: 10.1177/1740774519845673. Epub 2019 May 6.
Impact factor: 2.257
Publication type: Paper in international publication
Authors: Klopstock, Thomas, Escolar, Maria L, Marshall, Randall D, Perez-Duenas, Belen, Tuller, Sarah, Videnovic, Aleksandar, Greblikas, Feriandas et al.
DOI: 10.1177/1740774519845673

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.

PMID: 30340910
Journal: PARKINSONISM & RELATED DISORDERS
Year: 2019
Reference: Parkinsonism Relat Disord. 2019 Apr;61:179-186. doi: 10.1016/j.parkreldis.2018.10.013. Epub 2018 Oct 13.
Impact factor: 4.36
Publication type: Paper in international publication
Authors: Darling, Alejandra, Aguilera-Albesa, Sergio, Tello, Cristina Aisha, Serrano, Mercedes, Tomas, Miguel, Camino-Leon, Rafael, Fernandez-Ramos, Joaquin, Jimenez-Escrig, Adriano, Poo, Pilar, O'Callaghan, Mar et al.
DOI: 10.1016/j.parkreldis.2018.10.013

Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.

PMID: 30304743
Journal: NEUROPEDIATRICS
Year: 2018
Reference: Neuropediatrics. 2018 Dec;49(6):408-413. doi: 10.1055/s-0038-1673332. Epub 2018 Oct 10.
Impact factor: 1.605
Publication type: Paper in international publication
Authors: Itzep, Debora, Martinez-Monseny, Antonio F, Bolasell, Merce, Cuadras, Daniel, Velazquez-Fragua, Ramon, Gutierrez-Solana, Luis G, Macaya, Alfons, Perez-Duenas, Belen, Serrano, Mercedes, Aguilera-Albesa, Sergio et al.
DOI: 10.1055/s-0038-1673332

Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.

PMID: 30176098
Journal: HUMAN MUTATION
Year: 2018
Reference: Hum Mutat. 2018 Dec;39(12):1752-1763. doi: 10.1002/humu.23638. Epub 2018 Sep 17.
Impact factor: 5.359
Publication type: Review in national publication
Authors: Navarro-Vilarrubi, Sergi, Casas-Alba, Didac, Martinez-Monseny, Antonio, Pino-Ramirez, Rosa M, Alsina, Laia, Castejon, Esperanza, Palau, Francesc, Garcia-Alix, Alfredo, Serrano, Mercedes, Perez-Duenas, Belen et al.
DOI: 10.1002/humu.23638

Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results.

PMID: 30028274
Journal: Journal of Neurosurgery-Pediatrics
Year: 2018
Reference: J Neurosurg Pediatr. 2018 Oct;22(4):416-425. doi: 10.3171/2018.5.PEDS1814. Epub 2018 Jul 20.
Impact factor: 2.162
Publication type: Paper in international publication
Authors: Muchart, Jordi, Climent, Alejandra, Ferrer, Enrique, Rumia, Jordi, Perez-Duenas, Belen, Alamar, Mariana, Ortigoza-Escobar, Juan Dario, Vanegas, Maria Isabel, Candela, Santiago, Darling, Alejandra et al.
DOI: 10.3171/2018.5.PEDS1814

Diagnosis and Treatment of Tuberous Sclerosis Manifestations in Children: A Multicenter Study.

PMID: 29558773
Journal: NEUROPEDIATRICS
Year: 2018
Reference: Neuropediatrics. 2018 Jun;49(3):193-199. doi: 10.1055/s-0038-1637738. Epub 2018 Mar 20.
Impact factor: 1.605
Publication type: Paper in international publication
Authors: Flotats-Bastardas, Marina, Ebrahimi-Fakhari, Daniel, Gortner, Ludwig, Zemlin, Michael, Macaya-Ruiz, Alfons, Meyer, Sascha, Poryo, Martin et al.
DOI: 10.1055/s-0038-1637738

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

PMID: 28341975
Journal: JOURNAL OF INHERITED METABOLIC DISEASE
Year: 2017
Reference: J Inherit Metab Dis. 2017 Sep;40(5):709-713. doi: 10.1007/s10545-017-0028-4. Epub 2017 Mar 24.
Impact factor:
Publication type: Paper in international publication
Authors: Artuch, Rafael; Cuadras, Daniel; de Diego, Victor; Martinez-Monseny, Antonio F; Montero, Raquel; Muchart, Jordi; Perez, Belen; Perez-Cerda, Celia; Perez-Duenas, Belen; Poretti, Andrea et al.
DOI: 10.1007/s10545-017-0028-4

Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

PMID: 28600669
Journal: JOURNAL OF INHERITED METABOLIC DISEASE
Year: 2017
Reference: J Inherit Metab Dis. 2017 Sep;40(5):753-754. doi: 10.1007/s10545-017-0056-0.
Impact factor:
Publication type: Paper in international publication
Authors: Artuch, Rafael; Cuadras, Daniel; de Diego, Victor; Martinez-Monseny, Antonio F; Montero, Raquel; Muchart, Jordi; Perez, Belen; Perez-Cerda, Celia; Perez-Duenas, Belen; Poretti, Andrea et al.
DOI: 10.1007/s10545-017-0056-0

A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy.

PMID: 24445160
Journal: EUR J PAEDIATR NEURO
Year: 2014
Reference: Eur J Paediatr Neurol. 2014 May;18(3):430-3. doi: 10.1016/j.ejpn.2013.12.011. Epub 2014 Jan 8.
Impact factor: 1.934
Publication type: Paper in international publication
Authors: Vila-Pueyo, Marta, Gene, Gemma G, Flotats-Bastardes, Marina, Elorza, Xabier, Sintas, Celia, Valverde, Miguel A, Cormand, Bru, Fernandez-Fernandez, Jose M, Macaya, Alfons et al.
DOI: 10.1016/j.ejpn.2013.12.011

[Clinical variability of polymicrogiria: report of 35 new cases and review of the literature].

PMID: 22972573
Journal: REVISTA DE NEUROLOGIA
Year: 2012
Reference: Rev Neurol. 2012 Sep 16;55(6):321-9.
Impact factor:
Publication type: Letter or abstract
Authors: Flotats-Bastardas, M, Ortega-Aznar, A, Boronat-Guerrero, S, Raspall-Chaure, M, Del Toro-Riera, M, Munell, F, Macaya-Ruiz, A, Roig-Quilis, M, Vazquez-Mendez, E, Sanchez-Montanez, A et al.
DOI:

Thesis

Diagnòstic dels trastorns genètics de la substància blanca cerebral i identificació de noves malalties mitjançant tècniques de sequ?enciació massiva

PhD student: Agusti Rodriguez Palmero Seuma
Director/s: Alfons Macaya Ruíz, Aurora Pujol Onofre
University: Universitat Autònoma de Barcelona
Year: 2022

Seqüenciació exòmica en l'estudi molecular de les encefalopaties epilèptiques d'inici precoç

PhD student: Anna Marcé Grau
Director/s: Alfons Macaya Ruíz
University: Universidad Autònoma de Barcelona
Year: 2018

Factors influencing psychiatric outcome in children with neurological conditions: focus on acquired brain injury epilepsy

PhD student: María Teresa Lax Pericall
Director/s:
University: Universidad Autònoma de Barcelona
Year: 2016

Blog

News

The ClinPrior algorithm achieved a positive diagnosis rate of 70% in two minority diseases of neurodegenerative origin, which represents double the number of cases that are diagnosed with current tools.

Over the course of two days, experts presented the latest advances in vectors, different gene modification techniques and their transfer to clinical practice.

El 20% dels pacients en els quals s’havia trobat alguna predisposició genètica van ser diagnosticats amb algun tipus de tumor i van poder iniciar el tractament de manera precoç.

Job offers

Clinical researcher in Metabolic disorders-Pediatric Neurology Research Group_20240077
Start date:
15/02/2024
End date:
29/02/2024
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Technician Graduate/Licensed in rare neurological disorders
Start date:
22/08/2023
End date:
11/09/2023
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Study Coordinator, Data Manager - Pediatric Neurology Research Group
Start date:
18/07/2023
End date:
08/08/2023
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