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Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report.
Danti FR, Sarmiento IJK, Moloney PB, Colangelo I, Graziola F, Garavaglia B, Zorzi G, Mencacci NE, Lubbe SJ. Danti FR, et al. Among authors: graziola f. Mov Disord. 2024 Apr;39(4):747-749. doi: 10.1002/mds.29732. Epub 2024 Feb 21. Mov Disord. 2024. PMID: 38380600 No abstract available.
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.
Schirinzi T, Garone G, Travaglini L, Vasco G, Galosi S, Rios L, Castiglioni C, Barassi C, Battaglia D, Gambardella ML, Cantonetti L, Graziola F, Marras CE, Castelli E, Bertini E, Capuano A, Leuzzi V. Schirinzi T, et al. Among authors: graziola f. Parkinsonism Relat Disord. 2019 Apr;61:19-25. doi: 10.1016/j.parkreldis.2018.11.019. Epub 2018 Nov 16. Parkinsonism Relat Disord. 2019. PMID: 30642806 Review.
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration.
Dentici ML, Alesi V, Quinodoz M, Robens B, Guerin A, Lebon S, Poduri A, Travaglini L, Graziola F, Afenjar A, Keren B, Licursi V, Capuano A, Dallapiccola B, Superti-Furga A, Novelli A. Dentici ML, et al. Among authors: graziola f. J Med Genet. 2022 Mar;59(3):262-269. doi: 10.1136/jmedgenet-2020-107430. Epub 2021 Jan 4. J Med Genet. 2022. PMID: 33397746
Acute Movement Disorders in Childhood.
Garone G, Graziola F, Grasso M, Capuano A. Garone G, et al. Among authors: graziola f. J Clin Med. 2021 Jun 17;10(12):2671. doi: 10.3390/jcm10122671. J Clin Med. 2021. PMID: 34204464 Free PMC article. Review.
58 results