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Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2).
Lange LM, Avenali M, Ellis M, Illarionova A, Keller Sarmiento IJ, Tan AH, Madoev H, Galandra C, Junker J, Roopnarain K, Solle J, Wegel C, Fang ZH, Heutink P, Kumar KR, Lim SY, Valente EM, Nalls M, Blauwendraat C, Singleton A, Mencacci N, Lohmann K, Klein C; Global Parkinson’s Genetic Program (GP2). Lange LM, et al. NPJ Parkinsons Dis. 2023 Jun 27;9(1):100. doi: 10.1038/s41531-023-00526-9. NPJ Parkinsons Dis. 2023. PMID: 37369645 Free PMC article.
Analysis of the genetic variability in Parkinson's disease from Southern Spain.
Bandrés-Ciga S, Mencacci NE, Durán R, Barrero FJ, Escamilla-Sevilla F, Morgan S, Hehir J, Vives F, Hardy J, Pittman AM. Bandrés-Ciga S, et al. Among authors: mencacci ne. Neurobiol Aging. 2016 Jan;37:210.e1-210.e5. doi: 10.1016/j.neurobiolaging.2015.09.020. Epub 2015 Oct 8. Neurobiol Aging. 2016. PMID: 26518746
The commercial genetic testing landscape for Parkinson's disease.
Cook L, Schulze J, Verbrugge J, Beck JC, Marder KS, Saunders-Pullman R, Klein C, Naito A, Alcalay RN; ClinGen Parkinson's Disease Gene Curation Expert Panel and the MDS Task Force for Recommendations for Genetic Testing in Parkinson's Disease; Clinical Genome Resource (ClinGen) Parkinson's Disease Gene Curation Expert Panel Authors; Movement Society Disorder (MDS) Task Force on Recommendations for Clinical Genetic Testing in Parkinson's Disease Authors. Cook L, et al. Parkinsonism Relat Disord. 2021 Nov;92:107-111. doi: 10.1016/j.parkreldis.2021.10.001. Epub 2021 Oct 19. Parkinsonism Relat Disord. 2021. PMID: 34696975 Free PMC article.
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L, Verbrugge J, Schwantes-An TH, Schulze J, Foroud T, Hall A, Marder KS, Mata IF, Mencacci NE, Nance MA, Schwarzschild MA, Simuni T, Bressman S, Wills AM, Fernandez HH, Litvan I, Lyons KE, Shill HA, Singer C, Tropea TF, Vanegas Arroyave N, Carbonell J, Cruz Vicioso R, Katus L, Quinn JF, Hodges PD, Meng Y, Strom SP, Blauwendraat C, Lohmann K, Casaceli C, Rao SC, Ghosh Galvelis K, Naito A, Beck JC, Alcalay RN. Cook L, et al. Among authors: mencacci ne. Brain. 2024 Aug 1;147(8):2668-2679. doi: 10.1093/brain/awae142. Brain. 2024. PMID: 39074992 Free PMC article.
The LRRK2 p.L1795F variant causes Parkinson's disease in the European population.
Lange LM, Levine K, Fox SH, Marras C, Ahmed N, Kuznetsov N, Vitale D, Iwaki H, Lohmann K, Marsili L, Espay AJ, Bauer P, Beetz C, Martin J, Factor SA, Higginbotham LA, Chen H, Leonard H, Nalls M, Mencacci NE, Morris HR, Klein C, Blauwendraat C, Fang ZH; Global Parkinson’s Genetics Program (GP2). Lange LM, et al. Among authors: mencacci ne. Res Sq [Preprint]. 2024 Sep 20:rs.3.rs-4772543. doi: 10.21203/rs.3.rs-4772543/v1. Res Sq. 2024. PMID: 39372927 Free PMC article. Preprint.
Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale.
Junker J, Lange LM, Vollstedt EJ, Roopnarain K, Doquenia MLM, Annuar AA, Avenali M, Bardien S, Bahr N, Ellis M, Galandra C, Gasser T, Heutink P, Illarionova A, Kanana Y, Keller Sarmiento IJ, Kumar KR, Lim SY, Madoev H, Mata IF, Mencacci NE, Nalls MA, Padmanabhan S, Shambetova C, Solle JC, Tan AH, Trinh J, Valente EM, Singleton A, Blauwendraat C, Lohmann K, Fang ZH, Klein C; Global Parkinson's Genetics Program (GP2). Junker J, et al. Among authors: mencacci ne. Mov Disord. 2024 Oct;39(10):1868-1873. doi: 10.1002/mds.29925. Epub 2024 Jul 30. Mov Disord. 2024. PMID: 39076159
112 results