Matilde Aquilino

Publications

Research output per year 2021 2021 2024 2025 2025

• 3 Article
• 1 Review Article

Research output per year

Research output per year

Search results

• 2025

  Epigenetic and metabolic regulation of developmental timing in neocortex evolution

  Aquilino, M., Ditzer, N., Namba, T. & Albert, M., 2025, In: Trends in Neurosciences. 15 p.

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

  Open Access

  File
• 2024

  Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase

  Jones, A. G., Aquilino, M., Tinker, R. J., Duncan, L., Jenkins, Z., Carvill, G. L., DeWard, S. J., Grange, D. K., Hajianpour, M. J., Halliday, B. J., Holder-Espinasse, M., Horvath, J., Maitz, S., Nigro, V., Morleo, M., Paul, V., Spencer, C., Esterhuizen, A. I., Polster, T. & Spano, A. & 8 others, Gómez-Lozano, I., Kumar, A., Poke, G., Phillips, J. A., Underhill, H. R., Gimenez, G., Namba, T. & Robertson, S. P., 4 Apr 2024, In: American Journal of Human Genetics. 111, 4, p. 729-741 13 p.

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

• Functional synergy of a human-specific and an ape-specific metabolic regulator in human neocortex development

  Xing, L., Gkini, V., Nieminen, A. I., Zhou, H.-C., Aquilino, M., Naumann, R., Reppe, K., Tanaka, K., Carmeliet, P., Heikinheimo, O., Pääbo, S., Huttner, W. B. & Namba, T., Apr 2024, In: Nature Communications. 15, 13 p., 3468.

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

  Open Access

  File
• 2021

  Increased Endogenous GDNF in Mice Protects Against Age-Related Decline in Neuronal Cholinergic Markers

  Mitra, S., Turconi, G., Darreh-Shori, T., Mätlik, K., Aquilino, M., Eriksdotter, M. & Andressoo, J.-O., 12 Aug 2021, In: Frontiers in aging neuroscience. 13, 13 p., 714186.

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

  Open Access

  File