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, 15 p., 1321282.

Research output: Contribution to journal › Article › Research › peer-review

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 journal › Article › Research › peer-review

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 journal › Article › Research › peer-review

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 journal › Article › Research › peer-review

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 journal › Article › Research › peer-review