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Research Output 2018 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., Aug 10 2019, In : European Journal of Paediatric Neurology.

Research output: Contribution to journalArticle

Spinocerebellar Degenerations
Cerebellar Ataxia
Genetic Testing
Differential Diagnosis

The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis

Arrigoni, F., Romaniello, R., Peruzzo, D., Poretti, A., Bassi, M. T., Pierpaoli, C., Valente, E. M., Nuovo, S., Boltshauser, E., Huisman, T. A. G. M., Triulzi, F. & Borgatti, R., 2019, In : European Radiology. 29, 2, p. 770-782 13 p.

Research output: Contribution to journalArticle


Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome

Nuovo, S., Fuiano, L., Micalizzi, A., Battini, R., Bertini, E., Borgatti, R., Caridi, G., D'Arrigo, S., Fazzi, E., Fischetto, R., Ghiggeri, G. M., Giordano, L., Leuzzi, V., Romaniello, R., Signorini, S., Stringini, G., Zanni, G., Romani, M., Valente, E. M. & Emma, F., Nov 6 2018, In : Nephrology Dialysis Transplantation.

Research output: Contribution to journalArticle

Chronic Renal Insufficiency
Disease Progression
Osmolar Concentration