19982019

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2018

A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia

Vicario, M., Zanni, G., Vallese, F., Santorelli, F., Grinzato, A., Cieri, D., Berto, P., Frizzarin, M., Lopreiato, R., Zonta, F., Ferro, S., Sandre, M., Marin, O., Ruzzene, M., Bertini, E., Zanotti, G., Brini, M., Calì, T. & Carafoli, E., Jul 2018, In : Neurobiology of Disease. 115, p. 157-166 10 p.

Research output: Contribution to journalArticle

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy

Sferra, A., Fattori, F., Rizza, T., Flex, E., Bellacchio, E., Bruselles, A., Petrini, S., Cecchetti, S., Teson, M., Restaldi, F., Ciolfi, A., Santorelli, F. M., Zanni, G., Barresi, S., Castiglioni, C., Tartaglia, M. & Bertini, E., Jun 1 2018, In : Human Molecular Genetics. 27, 11, p. 1892-1904 13 p.

Research output: Contribution to journalArticle

Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia

Nicita, F., Tasca, G., Nardella, M., Bellacchio, E., Camponeschi, I., Vasco, G., Schirinzi, T., Bertini, E. & Zanni, G., Aug 2018, In : Cerebellum. 17, 4, p. 499-503 5 p.

Research output: Contribution to journalArticle

Serum uric acid in Friedreich Ataxia

Schirinzi, T., Vasco, G., Zanni, G., Petrillo, S., Piemonte, F., Castelli, E. & Bertini, E. S., Apr 2018, In : Clinical Biochemistry. 54, p. 139-141 3 p.

Research output: Contribution to journalArticle

2019

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

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

Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

Zanni, G., De Magistris, P., Nardella, M., Bellacchio, E., Barresi, S., Sferra, A., Ciolfi, A., Motta, M., Lue, H., Moreno-Andres, D., Tartaglia, M., Bertini, E. & Antonin, W., Feb 11 2019, In : Cerebellum.

Research output: Contribution to journalArticle

Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

Zanni, G., De Magistris, P., Nardella, M., Bellacchio, E., Barresi, S., Sferra, A., Ciolfi, A., Motta, M., Lue, H., Moreno-Andres, D., Tartaglia, M., Bertini, E. & Antonin, W., Jun 2019, In : Cerebellum. 18, 3, p. 433-434 2 p.

Research output: Contribution to journalArticle

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review

Galosi, S., Barca, E., Carrozzo, R., Schirinzi, T., Quinzii, C. M., Lieto, M., Vasco, G., Zanni, G., Di Nottia, M., Galatolo, D., Filla, A., Bertini, E., Santorelli, F. M., Leuzzi, V., Haas, R., Hirano, M. & Friedman, J., Nov 1 2019, In : Parkinsonism and Related Disorders. 68, p. 8-16 9 p.

Research output: Contribution to journalArticle