20132020

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

  • 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

    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

  • 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., 2019, In : European Journal of Paediatric Neurology. 23, 5, p. 692-706 15 p.

    Research output: Contribution to journalArticle

    Age and sex prevalence estimate of Joubert syndrome in Italy

    Group, JS. I. S., 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., Sep 2 2019, In : Neurology.

    Research output: Contribution to journalArticle