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Author/Creator Santorelli, F. M.

2. Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2. (April 2016)

Authors:
Fiorillo, C.; Moro, F.; Brisca, G.; Accogli, A.; Trucco, F.; Trovato, R.; Pedemonte, M.; Severino, M.; Catala, M.; Capra, V.; Santorelli, F. M.; Bruno, C.; Rossi, A.; Minetti, C.
Journal:
European journal of neurology
Issue:
Volume 23:Number 4(2016:Apr.)
Page Start:
e19
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Prevalence and phenotype of the c.1529C>T SPG7 variant in adult‐onset cerebellar ataxia in Italy. (3rd September 2018)

Authors:
Mancini, C.; Giorgio, E.; Rubegni, A.; Pradotto, L.; Bagnoli, S.; Rubino, E.; Prontera, P.; Cavalieri, S.; Di Gregorio, E.; Ferrero, M.; Pozzi, E.; Riberi, E.; Ferrero, P.; Nigro, P.; Mauro, A.; Zibetti, M.; Tessa, A.; Barghigiani, M.; Antenora, A.; Sirchia, F.
Journal:
European journal of neurology
Issue:
Volume 26:Number 1(2019)
Page Start:
80
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix‐Saguenay. A comprehensive study of an Italian series. Issue 1 (21st July 2012)

Authors:
Prodi, E.; Grisoli, M.; Panzeri, M.; Minati, L.; Fattori, F.; Erbetta, A.; Uziel, G.; D'Arrigo, S.; Tessa, A.; Ciano, C.; Santorelli, F. M.; Savoiardo, M.; Mariotti, C.
Journal:
European journal of neurology
Issue:
Volume 20:Issue 1(2013:Jan.)
Page Start:
138
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families. (1st November 2019)

Authors:
Lieto, M.; Riso, V.; Galatolo, D.; De Michele, G.; Rossi, S.; Barghigiani, M.; Cocozza, S.; Pontillo, G.; Trovato, R.; Saccà, F.; Salvatore, E.; Tessa, A.; Filla, A.; Santorelli, F. M.; De Michele, G.; Silvestri, G.
Journal:
European journal of neurology
Issue:
Volume 27:Number 3(2020)
Page Start:
498
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗