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Year Number of Results
2020 1
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2022 1
2023 3
2024 2

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Page 1
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
Abiusi E, Vaisfeld A, Fiori S, Novelli A, Spartano S, Faggiano MV, Giovanniello T, Angeloni A, Vento G, Santoloci R, Gigli F, D'Amico A, Costa S, Porzi A, Panella M, Ticci C, Daniotti M, Sacchini M, Boschi I, Dani C, Agostiniani R, Bertini E, Lanzone A, Lamarca G, Genuardi M, Pane M, Donati MA, Mercuri E, Tiziano FD; Italian SMA-NBS group. Abiusi E, et al. Among authors: novelli a. J Med Genet. 2023 Jul;60(7):697-705. doi: 10.1136/jmg-2022-108873. Epub 2022 Nov 22. J Med Genet. 2023. PMID: 36414255
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
Panagiotakaki E, Tiziano FD, Mikati MA, Vijfhuizen LS, Nicole S, Lesca G, Abiusi E, Novelli A, Di Pietro L; I.B.AHC Consortium; IAHCRC Consortium; Harder AVE, Walley NM, De Grandis E, Poulat AL, Portes VD, Lépine A, Nassogne MC, Arzimanoglou A, Vavassori R, Koenderink J, Thompson CH, George AL Jr, Gurrieri F, van den Maagdenberg AMJM, Heinzen EL. Panagiotakaki E, et al. Among authors: novelli a. Eur J Hum Genet. 2024 Feb;32(2):224-231. doi: 10.1038/s41431-023-01489-4. Epub 2023 Dec 14. Eur J Hum Genet. 2024. PMID: 38097767
SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples.
Abiusi E, Infante P, Cagnoli C, Lospinoso Severini L, Pane M, Coratti G, Pera MC, D'Amico A, Diano F, Novelli A, Spartano S, Fiori S, Baranello G, Moroni I, Mora M, Pasanisi MB, Pocino K, Le Pera L, D'Amico D, Travaglini L, Ria F, Bruno C, Locatelli D, Bertini ES, Morandi LO, Mercuri E, Di Marcotullio L, Tiziano FD. Abiusi E, et al. Among authors: novelli a. Elife. 2021 Sep 20;10:e68054. doi: 10.7554/eLife.68054. Elife. 2021. PMID: 34542403 Free PMC article.
Medical versus neurosurgical treatment in ICH patients: a single center experience.
Pierini P, Novelli A, Bossi F, Corinaldesi R, Paciaroni M, Mosconi MG, Alberti A, Venti M, de Magistris IL, Caso V. Pierini P, et al. Among authors: novelli a. Neurol Sci. 2024 Jan;45(1):223-229. doi: 10.1007/s10072-023-07015-0. Epub 2023 Aug 14. Neurol Sci. 2024. PMID: 37578629 Free PMC article.
Deregulated expression of the imprinted DLK1-DIO3 region in glioblastoma stemlike cells: tumor suppressor role of lncRNA MEG3.
Buccarelli M, Lulli V, Giuliani A, Signore M, Martini M, D'Alessandris QG, Giannetti S, Novelli A, Ilari R, Giurato G, Boe A, Castellani G, Spartano S, Marangi G, Biffoni M, Genuardi M, Pallini R, Marziali G, Ricci-Vitiani L. Buccarelli M, et al. Among authors: novelli a. Neuro Oncol. 2020 Dec 18;22(12):1771-1784. doi: 10.1093/neuonc/noaa127. Neuro Oncol. 2020. PMID: 32459347 Free PMC article.