Fondazione Stella Maris

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    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

  • Autism as a disruption of affective contact: The forgotten role of George Frankl

    Muratori, F. & Bizzari, V., 2020, In : Clinical Neuropsychiatry. 16, 4, p. 127-132 6 p.

    Research output: Contribution to journalArticle

  • Awareness of rare and genetic neurological diseases among italian neurologist. A national survey

    Mancuso, M., Filosto, M., Lamperti, C., Musumeci, O., Santorelli, F. M., Servidei, S., Valente, E. M., Zeviani, M., Mancardi, G., Tedeschi, G. & Federico, A., Jan 1 2020, (Accepted/In press) In : Neurological Sciences.

    Research output: Contribution to journalArticle