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22 results

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Page 1
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.
Denora PS, Muglia M, Casali C, Truchetto J, Silvestri G, Messina D, Boukrhis A, Magariello A, Modoni A, Masciullo M, Malandrini A, Morelli M, de Leva MF, Villanova M, Giugni E, Citrigno L, Rizza T, Federico A, Pierallini A, Quattrone A, Filla A, Brice A, Stevanin G, Santorelli FM. Denora PS, et al. Among authors: de leva mf. J Neurol Sci. 2009 Feb 15;277(1-2):22-5. doi: 10.1016/j.jns.2008.09.039. Epub 2008 Dec 13. J Neurol Sci. 2009. PMID: 19084844
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, Battini R, Sickl E, de Leva MF, Boespflug-Tanguy O, Silvestri G, Simonati A, Said E, Ferbert A, Criscuolo C, Heinimann K, Modoni A, Weber P, Palmeri S, Plasilova M, Pauri F, Cassandrini D, Battisti C, Pini A, Tosetti M, Hauser E, Masciullo M, Di Fabio R, Piccolo F, Denis E, Cioni G, Massa R, Della Giustina E, Calabrese O, Melone MA, De Michele G, Federico A, Bertini E, Durr A, Brockmann K, van der Knaap MS, Zatz M, Filla A, Brice A, Stevanin G, Santorelli FM. Denora PS, et al. Among authors: de michele g, de leva mf. Hum Mutat. 2009 Mar;30(3):E500-19. doi: 10.1002/humu.20945. Hum Mutat. 2009. PMID: 19105190 Free article.
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.
Tessa A, Silvestri G, de Leva MF, Modoni A, Denora PS, Masciullo M, Dotti MT, Casali C, Melone MA, Federico A, Filla A, Santorelli FM. Tessa A, et al. Among authors: de leva mf. J Neurol. 2008 Jul;255(7):1090-2. doi: 10.1007/s00415-008-0840-8. Epub 2008 Jun 2. J Neurol. 2008. PMID: 18500496 No abstract available.
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: de michele g. J Neurol. 2010 Mar;257(3):328-31. doi: 10.1007/s00415-009-5311-3. Epub 2009 Sep 19. J Neurol. 2010. PMID: 19768483
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: de michele g, de leva mf. J Neurol. 2009 Aug;256(8):1252-7. doi: 10.1007/s00415-009-5109-3. Epub 2009 Apr 12. J Neurol. 2009. PMID: 19363635
Neuroimaging follow-up in a case of Rasmussen's encephalitis with dyskinesias.
de Leva MF, Varrone A, Filla A, Quarantelli M, Bilo L, Piscitelli V, Salvatore E, Ammendola S, Striano S, De Michele G, Bonavita V, Pappatà S. de Leva MF, et al. Among authors: de michele g. Mov Disord. 2007 Oct 31;22(14):2117-21. doi: 10.1002/mds.21711. Mov Disord. 2007. PMID: 17853478
Reduced cardiac 123I-metaiodobenzylguanidine uptake in patients with spinocerebellar ataxia type 2: a comparative study with Parkinson's disease.
De Rosa A, Pappatà S, Pellegrino T, De Leva MF, Maddaluno G, Fiumara G, Carotenuto R, Petretta M, Filla A, De Michele G, Cuocolo A. De Rosa A, et al. Among authors: de leva mf. Eur J Nucl Med Mol Imaging. 2013 Dec;40(12):1914-21. doi: 10.1007/s00259-013-2524-6. Epub 2013 Aug 9. Eur J Nucl Med Mol Imaging. 2013. PMID: 23929432
Is Covid-19 lockdown related to an increase of accesses for seizures in the emergency department? An observational analysis of a paediatric cohort in the Southern Italy.
Palladino F, Merolla E, Solimeno M, de Leva MF, Lenta S, Di Mita O, Bonadies A, Striano P, Tipo V, Varone A. Palladino F, et al. Among authors: de leva mf. Neurol Sci. 2020 Dec;41(12):3475-3483. doi: 10.1007/s10072-020-04824-5. Epub 2020 Oct 23. Neurol Sci. 2020. PMID: 33095368 Free PMC article.
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