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PARK2 microdeletion in a multiplex family with autism spectrum disorder.
Barone R, Cirnigliaro L, Saccuzzo L, Valdese S, Pettinato F, Prato A, Bernardini L, Fichera M, Rizzo R. Barone R, et al. Among authors: pettinato f. Int J Dev Neurosci. 2023 Feb;83(1):121-131. doi: 10.1002/jdn.10246. Epub 2022 Dec 20. Int J Dev Neurosci. 2023. PMID: 36478299
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
Pettinato F, Mostile G, Battini R, Martinelli D, Madeo A, Biamino E, Frattini D, Garozzo D, Gasperini S, Parini R, Sirchia F, Sortino G, Sturiale L, Matthijs G, Morrone A, Di Rocco M, Rizzo R, Jaeken J, Fiumara A, Barone R. Pettinato F, et al. Cerebellum. 2021 Aug;20(4):596-605. doi: 10.1007/s12311-021-01242-x. Epub 2021 Feb 22. Cerebellum. 2021. PMID: 33619652 Free PMC article.
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.
Holubova V, Barone R, Grunewald S, Tesařová M, Hansíková H, Augustínová J, Sykut-Cegielska J, De Nictolis F, Diaz-Moreno U, Elangovan R, Epifani F, Gasperini S, Jansen M, Lefeber D, Maksym-Gasiorek D, Diego M, Ounap K, Pettinato F, Põder H, Rymen D, Vals MA, Serrano M, Witters P, Honzík T. Holubova V, et al. Among authors: pettinato f. J Inherit Metab Dis. 2025 Jan;48(1):e12826. doi: 10.1002/jimd.12826. Epub 2024 Dec 5. J Inherit Metab Dis. 2025. PMID: 39633515
15 results