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20182019
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Research Output 2018 2019

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
Neurology
Differential Diagnosis

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., Jan 1 2019, (Accepted/In press) In : Molecular Biology Reports.

Research output: Contribution to journalArticle

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

2018

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
Kidney
Urine