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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. 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. 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. Mov Disord. 2024 Oct;39(10):1868-1873. doi: 10.1002/mds.29925. Epub 2024 Jul 30. Mov Disord. 2024. PMID: 39076159