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Page 1
Rhythmic cortical myoclonus in patients with 6Q22.1 deletion.
Canafoglia L, Zibordi F, Deleo F, Strigaro G, Varrasi C, Ciaccio C, Nardocci N, Panzica F, Franceschetti S, Sciacca FL. Canafoglia L, et al. Among authors: sciacca fl. Eur J Paediatr Neurol. 2023 May;44:25-27. doi: 10.1016/j.ejpn.2023.03.001. Epub 2023 Mar 22. Eur J Paediatr Neurol. 2023. PMID: 36990055
Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant.
Freri E, Canafoglia L, Ciaccio C, Rossi Sebastiano D, Caputo D, Solazzi R, Sciacca FL, Iascone M, Panzica F, Granata T, Franceschetti S, Nardocci N. Freri E, et al. Among authors: sciacca fl. Mov Disord. 2024 Jul;39(7):1238-1240. doi: 10.1002/mds.29793. Epub 2024 Apr 21. Mov Disord. 2024. PMID: 38643413 No abstract available.
Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations.
Meossi C, Carrer A, Ciaccio C, Pezzoli L, Pezzani L, Silipigni RM, Sciacca FL, Tenconi R, Esposito S, De Laurentiis A, Pantaleoni C, Marchisio P, Natacci F, D'Arrigo S, Iascone M, Milani D. Meossi C, et al. Among authors: sciacca fl. Genes (Basel). 2024 Nov 7;15(11):1441. doi: 10.3390/genes15111441. Genes (Basel). 2024. PMID: 39596641 Free PMC article.
Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A.
Peron C, Cavaliere A, Fasano C, Iannielli A, Spagnolo M, Legati A, Nicol Colombo M, Rizzo A, Sciacca FL, Carelli V, Broccoli V, Lamperti C, Tiranti V. Peron C, et al. Among authors: sciacca fl. Stem Cell Res. 2024 Jun;77:103406. doi: 10.1016/j.scr.2024.103406. Epub 2024 Mar 24. Stem Cell Res. 2024. PMID: 38552355 Free article.
The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs.
Palombo F, Peron C, Caporali L, Iannielli A, Maresca A, Di Meo I, Fiorini C, Segnali A, Sciacca FL, Rizzo A, Levi S, Suomalainen A, Prigione A, Broccoli V, Carelli V, Tiranti V. Palombo F, et al. Among authors: sciacca fl. Stem Cell Reports. 2021 Aug 10;16(8):1953-1967. doi: 10.1016/j.stemcr.2021.06.016. Epub 2021 Jul 29. Stem Cell Reports. 2021. PMID: 34329598 Free PMC article.
45 results