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Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.
Nicita F, Ginevrino M, Travaglini L, D'Arrigo S, Zorzi G, Borgatti R, Terrone G, Catteruccia M, Vasco G, Brankovic V, Siliquini S, Romano S, Veredice C, Pedemonte M, Armando M, Lettori D, Stregapede F, Bosco L, Sferra A, Tessarollo V, Romaniello R, Ristori G, Bertini E, Valente EM, Zanni G. Nicita F, et al. Among authors: romano s. J Med Genet. 2021 Jul;58(7):475-483. doi: 10.1136/jmedgenet-2020-107007. Epub 2020 Jul 31. J Med Genet. 2021. PMID: 32737135
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
Mantuano E, Romano S, Veneziano L, Gellera C, Castellotti B, Caimi S, Testa D, Estienne M, Zorzi G, Bugiani M, Rajabally YA, Barcina MJ, Servidei S, Panico A, Frontali M, Mariotti C. Mantuano E, et al. Among authors: romano s. J Neurol Sci. 2010 Apr 15;291(1-2):30-6. doi: 10.1016/j.jns.2010.01.010. Epub 2010 Feb 2. J Neurol Sci. 2010. PMID: 20129625
Effects of Bacille Calmette-Guerin after the first demyelinating event in the CNS.
Ristori G, Romano S, Cannoni S, Visconti A, Tinelli E, Mendozzi L, Cecconi P, Lanzillo R, Quarantelli M, Buttinelli C, Gasperini C, Frontoni M, Coarelli G, Caputo D, Bresciamorra V, Vanacore N, Pozzilli C, Salvetti M. Ristori G, et al. Among authors: romano s. Neurology. 2014 Jan 7;82(1):41-8. doi: 10.1212/01.wnl.0000438216.93319.ab. Epub 2013 Dec 4. Neurology. 2014. PMID: 24306002 Free PMC article. Clinical Trial.
Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial.
Romano S, Coarelli G, Marcotulli C, Leonardi L, Piccolo F, Spadaro M, Frontali M, Ferraldeschi M, Vulpiani MC, Ponzelli F, Salvetti M, Orzi F, Petrucci A, Vanacore N, Casali C, Ristori G. Romano S, et al. Lancet Neurol. 2015 Oct;14(10):985-91. doi: 10.1016/S1474-4422(15)00201-X. Epub 2015 Aug 25. Lancet Neurol. 2015. PMID: 26321318 Clinical Trial.
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia.
Coarelli G, Romano S, Travaglini L, Ferraldeschi M, Nicita F, Spadaro M, Fornasiero A, Frontali M, Salvetti M, Bertini E, Ristori G. Coarelli G, et al. Among authors: romano s. Clin Neurol Neurosurg. 2018 May;168:60-63. doi: 10.1016/j.clineuro.2018.02.042. Epub 2018 Mar 3. Clin Neurol Neurosurg. 2018. PMID: 29524657
Corrigendum to "Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia" [Clin. Neurol. Neurosurg. 168 (May) (2018) 60-63].
Coarelli G, Romano S, Travaglini L, Ferraldeschi M, Nicita F, Spadaro M, Fornasiero A, Frontali M, Salvetti M, Bertini E, Ristori G. Coarelli G, et al. Among authors: romano s. Clin Neurol Neurosurg. 2018 Sep;172:190. doi: 10.1016/j.clineuro.2018.06.025. Epub 2018 Jun 30. Clin Neurol Neurosurg. 2018. PMID: 29970275 No abstract available.
1,285 results