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Page 1
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
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.
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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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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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Tolchin D, Yeager JP, Prasad P, Dorrani N, Russi AS, Martinez-Agosto JA, Haseeb A, Angelozzi M, Santen GWE, Ruivenkamp C, Mercimek-Andrews S, Depienne C, Kuechler A, Mikat B, Ludecke HJ, Bilan F, Le Guyader G, Gilbert-Dussardier B, Keren B, Heide S, Haye D, Van Esch H, Keldermans L, Ortiz D, Lancaster E, Krantz ID, Krock BL, Pechter KB, Arkader A, Medne L, DeChene ET, Calpena E, Melistaccio G, Wilkie AOM, Suri M, Foulds N; Genomics England Research Consortium; Begtrup A, Henderson LB, Forster C, Reed P, McDonald MT, McConkie-Rosell A, Thevenon J, Le Tanno P, Coutton C, Tsai ACH, Stewart S, Maver A, Gorazd R, Pichon O, Nizon M, Cogné B, Isidor B, Martin-Coignard D, Stoeva R, Lefebvre V, Le Caignec C.
Tolchin D, et al. Among authors: melistaccio g.
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.
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