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Page 1
Genetic Evidence for Endolysosomal Dysfunction in Parkinson's Disease: A Critical Overview.
Int J Mol Sci. 2023 Mar 28;24(7):6338. doi: 10.3390/ijms24076338.
Int J Mol Sci. 2023.
PMID: 37047309
Free PMC article.
Review.
Juvenile-onset dystonia with spasticity in Leigh syndrome caused by a novel NDUFA10 variant.
Yahya V, Spagnolo F, Di Maggio G, Leopizzi E, De Marco P, Fortunato F, Comi GP, Rini A, Monfrini E, Di Fonzo A.
Yahya V, et al.
Parkinsonism Relat Disord. 2022 Nov;104:85-87. doi: 10.1016/j.parkreldis.2022.10.016. Epub 2022 Oct 14.
Parkinsonism Relat Disord. 2022.
PMID: 36270260
No abstract available.
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GABRB1-related early onset developmental and epileptic encephalopathy: Clinical trajectory and novel de novo mutation.
Monfrini E, Borellini L, Zirone E, Yahya V, Mauri E, Molisso MT, Mameli F, Ruggiero F, Comi GP, Barbieri S, Di Fonzo A, Dilena R.
Monfrini E, et al. Among authors: yahya v.
Epileptic Disord. 2023 Dec;25(6):867-873. doi: 10.1002/epd2.20132. Epub 2023 Aug 7.
Epileptic Disord. 2023.
PMID: 37518907
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