20052020

Research output per year

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Research Output

  • 45 Article
  • 1 Conference contribution
  • 1 Review article

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

  • 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