Calculated based on number of publications stored in Pure and citations from Scopus
1988 …2024

Research activity per year

Personal profile

Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being

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Collaborations and top research areas from the last five years

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  • Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy

    Ribeiro-Constante, J., Tristán-Noguero, A., Martínez Calvo, F. F., Ibañez-Mico, S., Peña Segura, J. L., Ramos-Fernández, J. M., Moyano Chicano, M. D. C., Camino León, R., Soto Insuga, V., González Alguacil, E., Valera Dávila, C., Fernández-Jaén, A., Plans, L., Camacho, A., Visa-Reñé, N., Martin-Tamayo Blázquez, M. D. P., Paredes-Carmona, F., Marti-Carrera, I., Hernández-Fabián, A. & Tomas Davi, M. & 24 others, Sanchez, M. C., Herraiz, L. C., Pita, P. F., Gonzalez, T. B., O'Callaghan, M. D. M., Iglesias Santa Polonia, F. F., Cazorla, M. R., Ferrando Lucas, M. T., González-Meneses, A., Sala-Coromina, J., Macaya Ruiz, A., Lasa-Aranzasti, A., Cueto-González, A. M., Valera Párraga, F., Campistol Plana, J., Serrano, M., Alonso, X., Del Castillo-Berges, D., Schwartz-Palleja, M., Illescas, S., Ramírez Camacho, A., Sans Capdevila, O., García-Cazorla, A. & Alonso-Colmenero, I., 5 Mar 2024, In: Frontiers in Cell and Developmental Biology. 12, 1321282.

    Research output: Contribution to journalArticleResearchpeer-review

    Open Access
  • Genome-wide DNA methylation analysis in an antimigraine-treated preclinical model of cortical spreading depolarization

    Vila-Pueyo, M., Cuenca-León, E., Queirós, A. C., Kulis, M., Sintas, C., Cormand, B., Martín-Subero, J. I., Pozo-Rosich, P., Fernàndez-Castillo, N. & Macaya, A., Feb 2023, In: Cephalalgia. 43, 2, p. 3331024221146317 12 p., 03331024221146317.

    Research output: Contribution to journalArticleResearchpeer-review

    Open Access
    5 Citations (Scopus)
  • The Expanding Phenotypical Spectrum of WARS2 -Related Disorder : Four Novel Cases with a Common Recurrent Variant

    Pauly, M. G., Korenke, G. C., Diaw, S. H., Grözinger, A., Cazurro-Gutiérrez, A. L., Pérez-Dueñas, B., González, V., Macaya Ruiz, A., Serrano Antón, A. T., Peterlin, B., Božović, I. B., Maver, A., Münchau, A. & Lohmann, K., 29 Mar 2023, In: Genes (Basel). 14

    Research output: Contribution to journalArticleResearchpeer-review

    Open Access
  • 16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency.

    Lasa-Aranzasti, A., Cazurro-Gutiérrez, A., Bescós, A., González, V., Ispierto, L., Tardáguila, M., Valenzuela, I., Plaja, A., Moreno-Galdó, A., Macaya-Ruiz, A. & Pérez-Dueñas, B., Oct 2022, In: Parkinsonism & related disorders. 103, p. 112-114 3 p.

    Research output: Contribution to journalArticleResearchpeer-review

    4 Citations (Scopus)
  • De novo KCNA6 variants with attenuated 1.6 channel deactivation in patients with epilepsy

    Salpietro, V., Galassi Deforie, V., Efthymiou, S., O'Connor, E., Marcé-Grau, A., Maroofian, R., Striano, P., Zara, F., Morrow, M. M., Reich, A., Blevins, A., Sala-Coromina, J., Accogli, A., Fortuna, S., Alesandrini, M., Au, P. Y. B., Singhal, N. S., Cogne, B., Isidor, B. & Hanna, M. G. & 4 others, Macaya Ruiz, A., Kullmann, D. M., Houlden, H. & Männikkö, R., 2022, In: Epilepsia. 64, p. 0443-455 13 p.

    Research output: Contribution to journalArticleResearchpeer-review

    Open Access
    6 Citations (Scopus)