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Expanding SPG18 clinical spectrum: autosomal dominant mutation causes complicated hereditary spastic paraplegia in a large family.
Trinchillo A, Valente V, Esposito M, Migliaccio M, Iovino A, Picciocchi M, Cuomo N, Caccavale C, Nocerino C, De Rosa L, Salvatore E, Pierantoni GM, Menchise V, Paladino S, Criscuolo C. Trinchillo A, et al. Among authors: salvatore e. Neurol Sci. 2024 Apr 12. doi: 10.1007/s10072-024-07500-0. Online ahead of print. Neurol Sci. 2024. PMID: 38607533
Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.
Criscuolo C, Filla A, Coppola G, Rinaldi C, Carbone R, Pinto S, Wang Q, de Leva MF, Salvatore E, Banfi S, Brunetti A, Quarantelli M, Geschwind DH, Pappatà S, De Michele G. Criscuolo C, et al. Among authors: salvatore e. J Neurol. 2009 Aug;256(8):1252-7. doi: 10.1007/s00415-009-5109-3. Epub 2009 Apr 12. J Neurol. 2009. PMID: 19363635
Spinocerebellar ataxia type 48: last but not least.
De Michele G, Galatolo D, Barghigiani M, Dello Iacovo D, Trovato R, Tessa A, Salvatore E, Filla A, De Michele G, Santorelli FM. De Michele G, et al. Among authors: salvatore e. Neurol Sci. 2020 Sep;41(9):2423-2432. doi: 10.1007/s10072-020-04408-3. Epub 2020 Apr 27. Neurol Sci. 2020. PMID: 32342324 Review.
Nigrostriatal involvement in ataxia with oculomotor apraxia type 1.
Salvatore E, Varrone A, Criscuolo C, Mancini P, Sansone V, Strisciuglio C, Cicala D, Scarano V, Salvatore M, Pappatà S, De Michele G, Filla A. Salvatore E, et al. Among authors: salvatore m. J Neurol. 2008 Jan;255(1):45-8. doi: 10.1007/s00415-007-0657-x. Epub 2007 Nov 21. J Neurol. 2008. PMID: 18004640
130 results