Projects per year
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Profiles
Projects
- 5 Finished
STELLA MARIS - NEUROLOGIA DELLO SVILUPPO: INNOVAZIONE IN DIAGNOSI E RIABILITAZIONE
Ricerca, U.
1/1/19 → 12/31/19
Project: Other project
STELLA MARIS - TECNICHE RM E RICERCA DI BIOMARKER PER LE NEUROSCIENZE DELLO SVILUPPO
Ricerca, U.
1/1/19 → 12/31/19
Project: Other project
STELLA MARIS - NEUROBIOLOGIA E NEUROGENETICA DEI DISTURBI DEL NEUROSVILUPPO
Ricerca, U.
1/1/19 → 12/31/19
Project: Other project
Research Output
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking: Human molecular genetics
Behne, R., Teinert, J., Wimmer, M., D'Amore, A., Davies, A. K., Scarrott, J. M., Eberhardt, K., Brechmann, B., Chen, IP-F., Buttermore, E. D., Barrett, L., Dwyer, S., Chen, T., Hirst, J., Wiesener, A., Segal, D., Martinuzzi, A., Duarte, S. T., Bennett, J. T., Bourinaris, T. & 9 others, , 2020, In : Hum. Mol. Genet.. 29, 2, p. 320-334 15 p.Research output: Contribution to journal › Article
A new paraplegin mutation in a patient with primary progressive multiple sclerosis
Bellinvia, A., Pastò, L., Niccolai, C., Tessa, A., Carrai, R., Martinelli, C., Moretti, M., Amato, M. P., Santorelli, F. M., Sorbi, S. & Matà, S., Sep 2020, In : Multiple Sclerosis and Related Disorders. 44, 102302.Research output: Contribution to journal › Article
A novel IRF2BPL truncating variant is associated with endolysosomal storage
Ginevrino, M., Battini, R., Nuovo, S., Simonati, A., Micalizzi, A., Contaldo, I., Serpieri, V. & Valente, E. M., 2020, In : Molecular Biology Reports. 47, 1, p. 711-714 4 p.Research output: Contribution to journal › Article