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A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase.
Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Tocino T, Amouri R, Sassi SB, Hentati F; Global Parkinson’s Genetics Program (GP2); Tonelli F, Alessi DR, Farrer MJ. Gustavsson EK, et al. Among authors: morris hr. medRxiv [Preprint]. 2024 Jan 18:2024.01.17.24300927. doi: 10.1101/2024.01.17.24300927. medRxiv. 2024. PMID: 38293014 Free PMC article. Preprint.
Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance.
Lubbe SJ, Escott-Price V, Gibbs JR, Nalls MA, Bras J, Price TR, Nicolas A, Jansen IE, Mok KY, Pittman AM, Tomkins JE, Lewis PA, Noyce AJ, Lesage S, Sharma M, Schiff ER, Levine AP, Brice A, Gasser T, Hardy J, Heutink P, Wood NW, Singleton AB, Williams NM, Morris HR; for International Parkinson’s Disease Genomics Consortium. Lubbe SJ, et al. Among authors: morris hr. Hum Mol Genet. 2016 Dec 15;25(24):5483-5489. doi: 10.1093/hmg/ddw348. Hum Mol Genet. 2016. PMID: 27798102 Free PMC article.
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.
Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrøm L, Guerreiro R, Gibbs JR, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez DG, Chung SJ, Goldwurm S, Toft M, Schulte C, Bras J, Wood NW, Brice A, Morris HR, Scholz SW, Nalls MA, Singleton AB, Cookson MR; COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease) Consortium, the French Parkinson’s Disease Consortium, and the International Parkinson’s Disease Genomics Consortium (IPDGC). Blauwendraat C, et al. Among authors: morris hr. JAMA Neurol. 2018 Nov 1;75(11):1416-1422. doi: 10.1001/jamaneurol.2018.1885. JAMA Neurol. 2018. PMID: 30039155 Free PMC article.
Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease.
Brown EE, Blauwendraat C, Trinh J, Rizig M, Nalls MA, Leveille E, Ruskey JA, Jonvik H, Tan MMX, Bandres-Ciga S, Hassin-Baer S, Brockmann K, Infante J, Tolosa E, Ezquerra M, Ben Romdhan S, Benmahdjoub M, Arezki M, Mhiri C, Hardy J, Singleton AB, Alcalay RN, Gasser T, Grosset DG, Williams NM, Pittman A, Gan-Or Z, Fernandez-Santiago R, Brice A, Lesage S, Farrer M, Wood N, Morris HR; International Parkinson Disease Genomics Consortium (IPDGC). Brown EE, et al. Among authors: morris hr. Neurobiol Aging. 2021 Jan;97:148.e17-148.e24. doi: 10.1016/j.neurobiolaging.2020.07.002. Epub 2020 Jul 13. Neurobiol Aging. 2021. PMID: 32873436 Free PMC article.
Association between the LRP1B and APOE loci and the development of Parkinson's disease dementia.
Real R, Martinez-Carrasco A, Reynolds RH, Lawton MA, Tan MMX, Shoai M, Corvol JC, Ryten M, Bresner C, Hubbard L, Brice A, Lesage S, Faouzi J, Elbaz A, Artaud F, Williams N, Hu MTM, Ben-Shlomo Y, Grosset DG, Hardy J, Morris HR. Real R, et al. Among authors: morris hr. Brain. 2023 May 2;146(5):1873-1887. doi: 10.1093/brain/awac414. Brain. 2023. PMID: 36348503 Free PMC article.
Large-scale rare variant burden testing in Parkinson's disease.
Makarious MB, Lake J, Pitz V, Ye Fu A, Guidubaldi JL, Solsberg CW, Bandres-Ciga S, Leonard HL, Kim JJ, Billingsley KJ, Grenn FP, Jerez PA, Alvarado CX, Iwaki H, Ta M, Vitale D, Hernandez D, Torkamani A, Ryten M, Hardy J; UK Brain Expression Consortium (UKBEC),; Scholz SW, Traynor BJ, Dalgard CL, Ehrlich DJ, Tanaka T, Ferrucci L, Beach TG, Serrano GE, Real R, Morris HR, Ding J, Gibbs JR, Singleton AB, Nalls MA, Bhangale T, Blauwendraat C. Makarious MB, et al. Among authors: morris hr. Brain. 2023 Nov 2;146(11):4622-4632. doi: 10.1093/brain/awad214. Brain. 2023. PMID: 37348876 Free PMC article.
Genetic meta-analysis of levodopa induced dyskinesia in Parkinson's disease.
Martinez-Carrasco A, Real R, Lawton M, Iwaki H, Tan MMX, Wu L, Williams NM, Carroll C, Hu MTM, Grosset DG, Hardy J, Ryten M, Foltynie T, Ben-Shlomo Y, Shoai M, Morris HR. Martinez-Carrasco A, et al. Among authors: morris hr. medRxiv [Preprint]. 2023 May 30:2023.05.24.23290362. doi: 10.1101/2023.05.24.23290362. medRxiv. 2023. PMID: 37425912 Free PMC article. Updated. Preprint.
Genome-wide Analysis of Motor Progression in Parkinson Disease.
Martínez Carrasco A, Real R, Lawton M, Hertfelder Reynolds R, Tan M, Wu L, Williams N, Carroll C, Corvol JC, Hu M, Grosset D, Hardy J, Ryten M, Ben-Shlomo Y, Shoai M, Morris HR. Martínez Carrasco A, et al. Among authors: morris hr. Neurol Genet. 2023 Aug 8;9(5):e200092. doi: 10.1212/NXG.0000000000200092. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37560120 Free PMC article.
Genetic meta-analysis of levodopa induced dyskinesia in Parkinson's disease.
Martinez-Carrasco A, Real R, Lawton M, Iwaki H, Tan MMX, Wu L, Williams NM, Carroll C, Hu MTM, Grosset DG, Hardy J, Ryten M, Foltynie T, Ben-Shlomo Y, Shoai M, Morris HR. Martinez-Carrasco A, et al. Among authors: morris hr. NPJ Parkinsons Dis. 2023 Aug 31;9(1):128. doi: 10.1038/s41531-023-00573-2. NPJ Parkinsons Dis. 2023. PMID: 37652906 Free PMC article.
Defining the causes of sporadic Parkinson's disease in the global Parkinson's genetics program (GP2).
Towns C, Richer M, Jasaityte S, Stafford EJ, Joubert J, Antar T, Martinez-Carrasco A, Makarious MB, Casey B, Vitale D, Levine K, Leonard H, Pantazis CB, Screven LA, Hernandez DG, Wegel CE, Solle J, Nalls MA, Blauwendraat C, Singleton AB, Tan MMX, Iwaki H, Morris HR; Global Parkinson’s Genetics Program (GP2). Towns C, et al. Among authors: morris hr. NPJ Parkinsons Dis. 2023 Sep 12;9(1):131. doi: 10.1038/s41531-023-00533-w. NPJ Parkinsons Dis. 2023. PMID: 37699923 Free PMC article.
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