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Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred.
Floris G, Borghero G, Di Stefano F, Melis R, Puddu R, Fadda L, Murru MR, Corongiu D, Cuccu S, Tranquilli S, Cannas A, Marrosu MG, Chiò A, Marrosu F. Floris G, et al. Among authors: fadda l. Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):245-8. doi: 10.3109/21678421.2015.1111904. Epub 2015 Nov 17. Amyotroph Lateral Scler Frontotemporal Degener. 2016. PMID: 26575405
Pulvinar sign in a case of anti-CV2 encephalitis.
Fadda L, Floris G, Polizzi L, Meleddu L, Ercoli T, Garofalo P, Saba L, Muroni A, Defazio G. Fadda L, et al. J Neurol Sci. 2018 Oct 15;393:69-71. doi: 10.1016/j.jns.2018.08.010. Epub 2018 Aug 7. J Neurol Sci. 2018. PMID: 30121006 No abstract available.
GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort.
Petrucci S, Ginevrino M, Trezzi I, Monfrini E, Ricciardi L, Albanese A, Avenali M, Barone P, Bentivoglio AR, Bonifati V, Bove F, Bonanni L, Brusa L, Cereda C, Cossu G, Criscuolo C, Dati G, De Rosa A, Eleopra R, Fabbrini G, Fadda L, Garbellini M, Minafra B, Onofrj M, Pacchetti C, Palmieri I, Pellecchia MT, Petracca M, Picillo M, Pisani A, Vallelunga A, Zangaglia R, Di Fonzo A, Morgante F, Valente EM; ITA-GENE-PD Study Group. Petrucci S, et al. Among authors: fadda l. Mov Disord. 2020 Nov;35(11):2106-2111. doi: 10.1002/mds.28195. Epub 2020 Jul 13. Mov Disord. 2020. PMID: 32658388
151 results