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Variants in ATP5F1B are associated with dominantly inherited dystonia.
Nasca A, Mencacci NE, Invernizzi F, Zech M, Keller Sarmiento IJ, Legati A, Frascarelli C, Bustos BI, Romito LM, Krainc D, Winkelmann J, Carecchio M, Nardocci N, Zorzi G, Prokisch H, Lubbe SJ, Garavaglia B, Ghezzi D. Nasca A, et al. Brain. 2023 Jul 3;146(7):2730-2738. doi: 10.1093/brain/awad068. Brain. 2023. PMID: 36860166 Free PMC article.
Rare causes of dystonia-parkinsonism with cognitive impairment, behavioral abnormalities, and voiceless whispering stereotypies: Describing the long-term evolution of the neurological phenotype in a patient with the PSEN2 Ile149Thr variant.
Romito LM, Prioni S, Braccia A, Catania M, Elia AE, Dondi F, Lucchini S, Bertagna F, Piacentini SHMJ, Eleopra R, Di Fede G. Romito LM, et al. J Neurol Sci. 2023 Nov 15;454:120846. doi: 10.1016/j.jns.2023.120846. Epub 2023 Oct 20. J Neurol Sci. 2023. PMID: 38236755 No abstract available.
A novel GNAL pathogenic variant leading to generalized dystonia: Immediate and sustained response to globus pallidus internus deep brain stimulation.
Romito LM, Paio F, Andreasi NG, Panteghini C, Rinaldo S, Kaymak A, Mazzoni A, Colucci F, Levi V, Messina G, Garavaglia B, Eleopra R. Romito LM, et al. Parkinsonism Relat Disord. 2023 Oct;115:105833. doi: 10.1016/j.parkreldis.2023.105833. Epub 2023 Aug 30. Parkinsonism Relat Disord. 2023. PMID: 37672824 No abstract available.
159 results