19982020

Research output per year

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Research Output

Age and sex prevalence estimate of Joubert syndrome in Italy

Nuovo, S., Bacigalupo, I., Ginevrino, M., Battini, R., Bertini, E., Borgatti, R., Casella, A., Micalizzi, A., Nardella, M., Romaniello, R., Serpieri, V., Zanni, G., Valente, E. M., Vanacore, N. & Group, JS. I. S., 2020, In : Neurology. 94, 8, p. e797-e801

Research output: Contribution to journalArticle

Age and sex prevalence estimate of Joubert syndrome in Italy

Nuovo, S., Bacigalupo, I., Ginevrino, M., Battini, R., Bertini, E., Borgatti, R., Casella, A., Micalizzi, A., Nardella, M., Romaniello, R., Serpieri, V., Zanni, G., Valente, E. M., Vanacore, N. & Group, JS. I. S., 2020, In : Neurology. 94, 8, p. e797-e801

Research output: Contribution to journalArticle

  • Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

    Nicita, F., Ginevrino, M., Travaglini, L., D'Arrigo, S., Zorzi, G., Borgatti, R., Terrone, G., Catteruccia, M., Vasco, G., Brankovic, V., Siliquini, S., Romano, S., Veredice, C., Pedemonte, M., Armando, M., Lettori, D., Stregapede, F., Bosco, L., Sferra, A., Tessarollo, V. & 5 others, Romaniello, R., Ristori, G., Bertini, E., Valente, E. M. & Zanni, G., Jul 31 2020, In : Journal of Medical Genetics.

    Research output: Contribution to journalArticle

  • A clinical diagnostic algorithm for early onset cerebellar ataxia

    Brandsma, R., Verschuuren-Bemelmans, C. C., Amrom, D., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic-Sreckovic, V., Brouwer, O. F., Bürk, K., Catsman-Berrevoets, C. E., Craiu, D., de Coo, I. F. M., Gburek, J., Kennedy, C., de Koning, T. J., Kremer, H. P. H., Kumar, R., Macaya, A., Micalizzi, A. & 14 others, Mirabelli-Badenier, M., Nemeth, A., Nuovo, S., Poll-The, B., Lerman-Sagie, T., Steinlin, M., Synofzik, M., Tijssen, M. A. J., Vasco, G., Willemsen, M. A. A. P., Zanni, G., Valente, E. M., Boltshauser, E. & Sival, D. A., Aug 10 2019, In : European Journal of Paediatric Neurology.

    Research output: Contribution to journalArticle