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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Am J Hum Genet. 2020 Jun 4;106(6):830-845. doi: 10.1016/j.ajhg.2020.04.015. Epub 2020 May 21.
Am J Hum Genet. 2020.
PMID: 32442410
Free PMC article.
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L, Rimoldi V, Monfrini E, Bonvegna S, Melistaccio G, Lake J, Soldà G, Aureli M, Shankaracharya, Keagle P, Foroud T, Landers JE, Blauwendraat C, Zecchinelli A, Cilia R, Di Fonzo A, Pezzoli G, Duga S, Asselta R.
Straniero L, et al. Among authors: melistaccio g.
Mov Disord. 2022 Jun;37(6):1202-1210. doi: 10.1002/mds.28987. Epub 2022 Mar 9.
Mov Disord. 2022.
PMID: 35262230
Free PMC article.
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A rapid and low-cost test for screening the most common Parkinson's disease-related GBA variants.
Straniero L, Rimoldi V, Melistaccio G, Di Fonzo A, Pezzoli G, Duga S, Asselta R.
Straniero L, et al. Among authors: melistaccio g.
Parkinsonism Relat Disord. 2020 Nov;80:138-141. doi: 10.1016/j.parkreldis.2020.09.036. Epub 2020 Sep 22.
Parkinsonism Relat Disord. 2020.
PMID: 32987361
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The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD.
Straniero L, Asselta R, Bonvegna S, Rimoldi V, Melistaccio G, Soldà G, Aureli M, Della Porta M, Lucca U, Di Fonzo A, Zecchinelli A, Pezzoli G, Cilia R, Duga S.
Straniero L, et al. Among authors: melistaccio g.
Neurol Genet. 2020 Oct 20;6(6):e523. doi: 10.1212/NXG.0000000000000523. eCollection 2020 Dec.
Neurol Genet. 2020.
PMID: 33209983
Free PMC article.
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