Ground-breaking clinical trials: gene therapy in Duchenne Muscular Dystrophy and Spinal Muscular Atrophy and gene-targeted therapies for SMA. We contribute clinical, molecular and imaging data as partners of an European project on Giant Sarcomeric Proteins. Consolidation of deep brain stimulation program for primary and secondary dystonias, the largest case series in the country: motor and functional outcome measures systematically analyzed. We continued to study the genetic basis of hyperkinetic movement disorders. An ongoing project seeks to elucidate the role of  the epsilon-sarcoglycan protein in an in vivo model and in the human brain. We are associated partners of the Solve-RD project, where a multi-omics approach is being used to reach diagnosis in a large cohort of undiagnosed patients with severe neurodevelopmental disorders. We set up fibroblast transdifferentiation to analyze causality of variants in genes with brain-restricted expression in epileptic encephalopathies.

Group Leader
Alfons Macaya Ruíz

Principal Investigator (PI)
Francina Munell, Belén Pérez Dueñas

Researchers
Anna Marcé Grau, David Gomez, Mireia del Toro Riera, Miquel Raspall Chaure, Ana Felipe Rucián

PhD Students
Penélope Romero Duque,Ana Cazurro Gutiérrez, Júlia Sala Coromina, Amaia Lasa Aranzasti, Marta Correa Vela, Mireia Álvarez Molinero, Laura Costa Comellas, Lucy Dougherty de Miguel

Nursing and Technical Staff
Federica Maruccia, Laia Ventura

37

PUBLICATIONS

185

IMPACT FACTOR

5.00

AVERAGE IMPACT FACTOR

SELECTED ARTICLES

Marcé-Grau A, Elorza-Vidal X, Pérez-Rius C, Ruiz-Nel Lo A, Sala-Coromina J, Gabau E, Estévez R, Macaya A
Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy
Hum Mutat. 2021 Oct;42(10):1215-1220
DOI: doi: 10.1002/humu.24252
IF: 4.878

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
DOI: oi: 10.1002/jimd.12288.
IF: 4.982

Masnada S, Martinelli D, Correa-Vela M, Agolini E, Baide-Mairena H, Marcé- Grau A, Parazzini C, Veggiotti P, Perez-Duenas B, Tonduti D.
PRKRA-Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum.
Mov Disord. 2021 Apr;36(4):1038-1040.
DOI: doi: 10.1002/mds.28492
IF: 10.338

Cazurro-Gutiérrez A, Marcé-Grau A, Correa-Vela M, Salazar A, Vanegas MI, Macaya A, Bayés À, Pérez-Dueñas B.
ε-Sarcoglycan: Unraveling the Myoclonus- Dystonia Gene.
Mol Neurobiol. 2021 Aug;58(8):3938-3952
DOI: doi: 10.1007/s12035-021-02391-0.
IF: 5.59

Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O'Leary M, O'Heir E, Barredo E, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marcé-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A. Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124. PMID: 34415322; PMCID: PMC8557332.
Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O’Leary M, O’Heir E, Barredo E, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marcé-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A. Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124. PMID: 34415322; PMCID: PMC8557332.
Brain. 2021 Oct 22;144(9):2659-2669
DOI: doi: 10.1093/brain/awab124
IF: 13.501

Enfermedades minoritarias causantes de degeneración de ganglios basales en pediatría: implementación combinada del análisis genómico y de biomarcadores
Principal Investigator: Belén Pérez Dueñas
Agency: Instituto de Salud Carlos III
Funding: 196,020€
Period: 2019-2021

Evaluation of NGS candidate genes causality in developmental epileptic encephalopathies
Principal Investigator: Alfons Macaya Ruiz
Agency: Instituto de Salud Carlos III
Funding: 196,020 €
Period: 2021-2023

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
Principal Investigator: Francina Munell Casadesus and Jordi Barquinero Mañez
Agency: Instituto de Salud Carlos III
Funding: 139,150 €
Period: 2020 - 2022

Mejora del rendimiento diagnóstico en genes sarcoméricos de gran tamaño
Principal Investigator: Francina Munell Casadesus
Agency: Instituto de Salud Carlos III
Funding: 73,205 €
Period: 2020 - 2022

Motor and social impact in ε-sarcoglycan myoclonus dystonia patients treated with deep brain stimulation
Principal Investigator: Belén Pérez Dueñas
Agency: Boston Scientific Iberica, S.A.
Funding: 134,115€
Period: 2021-2024

Neurosciences

Research Areas