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Focal neuromyotonia associated with a C9ORF72 expansion mutation.
Fortunato F, Bonapace G, Gullace R, Gagliardi M, Nisticò R, Valentino P, Gambardella A. Fortunato F, et al. Among authors: bonapace g. Muscle Nerve. 2020 Oct;62(4):E63-E65. doi: 10.1002/mus.27009. Epub 2020 Aug 5. Muscle Nerve. 2020. PMID: 32578243 No abstract available.
DNAJC13 mutation screening in patients with Parkinson's disease from South Italy.
Gagliardi M, Annesi G, Procopio R, Morelli M, Iannello G, Bonapace G, Mancini M, Nicoletti G, Quattrone A. Gagliardi M, et al. Among authors: bonapace g. Parkinsonism Relat Disord. 2018 Oct;55:134-137. doi: 10.1016/j.parkreldis.2018.06.004. Epub 2018 Jun 4. Parkinsonism Relat Disord. 2018. PMID: 29887357
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB.
Procopio R, Gagliardi M, D'Amelio M, Brighina L, Nicoletti G, Morelli M, Bonapace G, Quattrone A, Annesi G. Procopio R, et al. Among authors: bonapace g. Neurobiol Aging. 2020 Sep;93:143.e5-143.e7. doi: 10.1016/j.neurobiolaging.2020.04.006. Epub 2020 Apr 15. Neurobiol Aging. 2020. PMID: 32402491
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy.
Gagliardi M, Procopio R, Nicoletti G, Morelli M, Brighina L, Quattrone A, Bonapace G, Malanga D, Quattrone A, Annesi G. Gagliardi M, et al. Among authors: bonapace g. J Neurol Sci. 2021 Nov 15;430:120031. doi: 10.1016/j.jns.2021.120031. Epub 2021 Oct 16. J Neurol Sci. 2021. PMID: 34695705 No abstract available.
Genetics and Gene Therapy in Hunter Disease.
Sestito S, Falvo F, Scozzafava C, Apa R, Pensabene L, Bonapace G, Moricca MT, Concolino D. Sestito S, et al. Among authors: bonapace g. Curr Gene Ther. 2018;18(2):90-95. doi: 10.2174/1566523218666180404155759. Curr Gene Ther. 2018. PMID: 29618310 Review.
c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease.
Riillo C, Bonapace G, Moricca MT, Sestito S, Salatino A, Concolino D. Riillo C, et al. Among authors: bonapace g. Mol Genet Metab. 2023 Nov;140(3):107700. doi: 10.1016/j.ymgme.2023.107700. Epub 2023 Sep 14. Mol Genet Metab. 2023. PMID: 37774431 Free article.
28 results