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336 results

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Page 1
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
Torella A, Ricca I, Piluso G, Galatolo D, De Michele G, Zanobio M, Trovato R, De Michele G, Zeuli R, Pane C, Cocozza S, Saccà F, Santorelli FM, Nigro V, Filla A. Torella A, et al. Among authors: filla a. J Neurol. 2023 Oct;270(10):5057-5063. doi: 10.1007/s00415-023-11816-w. Epub 2023 Jul 7. J Neurol. 2023. PMID: 37418012 Free PMC article.
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.
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 FM, De Michele G, Silvestri G. Lieto M, et al. Among authors: filla a. Eur J Neurol. 2020 Mar;27(3):498-505. doi: 10.1111/ene.14094. Epub 2019 Nov 1. Eur J Neurol. 2020. PMID: 31571321
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.
De Michele G, Galatolo D, Galosi S, Mignarri A, Silvestri G, Casali C, Leuzzi V, Ricca I, Barghigiani M, Tessa A, Cioffi E, Caputi C, Riso V, Dotti MT, Saccà F, De Michele G, Cocozza S, Filla A, Santorelli FM. De Michele G, et al. Among authors: filla a. J Neurol. 2022 Mar;269(3):1476-1484. doi: 10.1007/s00415-021-10712-5. Epub 2021 Jul 22. J Neurol. 2022. PMID: 34292398 Free PMC article.
Determinants of onset age in Friedreich's ataxia.
De Michele G, Filla A, Criscuolo C, Scarano V, Cavalcanti F, Pianese L, Monticelli A, Cocozza S. De Michele G, et al. Among authors: filla a. J Neurol. 1998 Mar;245(3):166-8. doi: 10.1007/s004150050198. J Neurol. 1998. PMID: 9553847
Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.
Criscuolo C, Chessa L, Di Giandomenico S, Mancini P, Saccà F, Grieco GS, Piane M, Barbieri F, De Michele G, Banfi S, Pierelli F, Rizzuto N, Santorelli FM, Gallosti L, Filla A, Casali C. Criscuolo C, et al. Among authors: filla a. Neurology. 2006 Apr 25;66(8):1207-10. doi: 10.1212/01.wnl.0000208402.10512.4a. Neurology. 2006. PMID: 16636238
Complex phenotype in an Italian family with a novel mutation in SPG3A.
de Leva MF, Filla A, Criscuolo C, Tessa A, Pappatà S, Quarantelli M, Bilo L, Peluso S, Antenora A, Longo D, Santorelli FM, De Michele G. de Leva MF, et al. Among authors: filla a. J Neurol. 2010 Mar;257(3):328-31. doi: 10.1007/s00415-009-5311-3. Epub 2009 Sep 19. J Neurol. 2010. PMID: 19768483
Overview of autosomal recessive ataxias.
Filla A, De Michele G. Filla A, et al. Handb Clin Neurol. 2012;103:265-74. doi: 10.1016/B978-0-444-51892-7.00016-4. Handb Clin Neurol. 2012. PMID: 21827894 Review. No abstract available.
336 results