Fondazione Stella Maris

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    Projects

    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, Houlden, H., Roubertie, A., Santorelli, F. M., Robinson, M., Azzouz, M., Lipton, J. O., Borner, G. H. H., Sahin, M. & Ebrahimi-Fakhari, D., 2020, In : Hum. Mol. Genet.. 29, 2, p. 320-334 15 p.

    Research output: Contribution to journalArticle

  • 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 journalArticle

  • 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 journalArticle