eCORE
- Woman & Child Health & Rare Diseases
Team
Group Leader
David Gómez Andrés, Belén Pérez Dueñas
Principal Investigator (PI)
Anna Marcé Grau
Researchers
Maria Victoria González Martínez, Ignacio Delgado Álvarez, Lucy Dougherty de Miguel, Edgard Verdura Peralta
PhD Students
Ana Isabel Cazurro Gutiérrez
Nursing and Technical Staff
Martha Carolina Loredo Silos
Selected Publications
De Francesch, V., Cazurro-Gutiérrez, A., Timmers, E. R., Español-Martín, G., Ferrero-Turrión, J., Gómez-Andrés, D., Marcé-Grau, A., Dougherty-de Miguel, L., González, V., Moreno-Galdó, A., Tijssen, M. A. J., & Pérez-Dueñas, B.
Natural history of SGCE-associated myoclonus dystonia in children and adolescents.
Developmental medicine and child neurology. 16 Dec. 2024
DOI: 10.1111/dmcn.16214
IF: 3.8
de Gorostegui, A., Kiernan, D., Martín-Gonzalo, J. A., López-López, J., Pulido-Valdeolivas, I., Rausell, E., Zanin, M., & Gómez-Andrés, D.
Deep Learning Unravels Differences Between Kinematic and Kinetic Gait Cycle Time Series from Two Control Samples of Healthy Children Assessed in Two Different Gait Laboratories
Sensors (Basel). 2024;25(1):110
DOI: 10.3390/s25010110
IF: 3.4
Lasa-Aranzasti, A., Larasati, Y. A., da Silva Cardoso, J., Solis, G. P., Koval, A., Cazurro-Gutiérrez, A., Ortigoza-Escobar, J. D., Miranda, M. C., De la Casa-Fages, B., Moreno-Galdó, A., Tizzano, E. F., Gómez-Andrés, D., Verdura, E., Katanaev, V. L., Pérez-Dueñas, B., & Study Group of GNAO1 patients from Spain
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation
Movement Disorders. 2024;39(9):1578-1591
DOI: 10.1002/mds.29881
IF: 7.4
Rodó, C., Maiz, N., Vázquez, É., Gómez-Andrés, D., Valenzuela, I., Abulí, A., & Carreras, E.
Parental or Trio Magnetic Resonance Imaging to Improve Prenatal Counseling in Brain Anomalies
Prenatal diagnosis, 2024. 44(12), 1435–1443
DOI: 10.1002/pd.6653
IF: 2.7
Di Feo MF, Oghabian A, Nippala E, Gautel M, Jungbluth H, Forzano F, Malfatti E, Castiglioni C, Krey I, Gomez Andres D, Brady AF, Iascone M, Cereda A, Pezzani L, Natera De Benito D, Nascimiento Osorio A, Estévez Arias B, Kurbatov SA, Attie-Bitach T, Nampoothiri S, Ryan E, Morrow M, Gorokhova S, Chabrol B, Sinisalo J, Tolppanen H, Tolva J, Munell F, Camacho Soriano J, Sanchez Duran MA, Johari M, Tajsharghi H, Hackman P, Udd B, Savarese M
Inferring disease course from differential exon usage in the wide titinopathy spectrum
Ann Clin Transl Neurol. 2024 Oct;11(10):2745-2755
DOI: 10.1002/acn3.52189
IF: 4.4
Selected Projects
Movement disorders in the pediatric age
Principal Investigator: Belen Perez Dueñas
Agency: Instituto de Salud Carlos III
Funding: 125,840 €
Period: 01/01/2022 - 30/06/2026
Genetic and molecular analysis of myoclonic dystonia
Principal Investigator: Belen Perez Dueñas
Agency: Agència Gestió Ajuts Universitaris i de Recerca(AGAUR)
Funding: 67,425.41 €
Period: 01/04/2022 - 31/03/2025
Congenital muscular dystrophy type 1A: inhibition of fibrosis and correction by gene editing
Principal Investigator: Jordi Barquinero Mañez
Agency: Instituto de Salud Carlos III
Funding: 117,370 €
Period: 01/01/2023 - 31/12/2025
Pediatric Neurology
Principal Investigator: Alfons Macaya Ruíz
Agency: Agència Gestió Ajuts Universitaris i de Recerca (AGAUR)
TACTIC: Exploring solutions to healthcare challenges through disruptive science, advanced therapies and systems medicine.
Principal Investigator: Begoña Benito Villabriga
Agency: Instituto de Salud Carlos III
Funding: 2,494,527.53 €
Period: 01/01/2024 - 31/12/2027
Selected Dissemination Activities
IV Curso de NEUROLOGÍA PEDIÁTRICA: La prevención como piedra angular en enfermedades neurológicas de la infancia
Place: Vall d'Hebron University Hospital (Barcelona)
Date: 01/01/1970
Brief: Researchers from our group discussed the state of hospital care and research in relation to the prevention of paediatric neurological diseases
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Reunión de familias con Distonía Mioclónica y otras distonías (tercera edición)
Place: Vall d'Hebron University Hospital (Barcelona)
Date: 01/01/1970
Brief: Researchers from our group, in collaboration with the Dystonia Patient Association, presented recent advances in both clinical care and research aimed at improving the treatment and management of dystonia
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International Congress of Parkinson’’s Disease and Movement Disorders 2024.
Place: Philapdelphia, USA.
Date: 01/01/1970
Brief: Belén Pérez, the group leader, presented the following talk: The Spectrum of Cerebral Palsy: From Perinatal Brain Injury to Genetic.
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XLVI SENEP Anual Meeting
Place: Valladolid, Spain
Date: 01/01/1970
Brief: Belén Pérez, the group leader, presented the following talk: Movement disorders as diagnostic clues to treatable pathologies.
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World Muscle Society Congress 2024
Place: Prague (Czech Republic)
Date: 01/01/1970
Brief: David Gómez presented the following poster: Different lower limb muscle MRI patterns in autosomal dominant titinopathies
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