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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: hu mt. medRxiv [Preprint]. 2024 Jan 18:2024.01.17.24300927. doi: 10.1101/2024.01.17.24300927. medRxiv. 2024. PMID: 38293014 Free PMC article. Preprint.
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. Brain. 2023 May 2;146(5):1873-1887. doi: 10.1093/brain/awac414. Brain. 2023. PMID: 36348503 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. 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. Neurol Genet. 2023 Aug 8;9(5):e200092. doi: 10.1212/NXG.0000000000200092. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37560120 Free PMC article.
Investigation of the genetic aetiology of Lewy body diseases with and without dementia.
Wu L, Real R, Martinez A, Chia R, Lawton MA, Shoai M, Bresner C, Hubbard L, Blauwendraat C, Singleton AB, Ryten M, Scholz SW, Traynor BJ, Williams N, Hu MTM, Ben-Shlomo Y, Grosset DG, Hardy J, Morris HR; International LBD Genomic Consortium. Wu L, et al. medRxiv [Preprint]. 2023 Oct 27:2023.10.17.23297157. doi: 10.1101/2023.10.17.23297157. medRxiv. 2023. PMID: 37987016 Free PMC article. Preprint.
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
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, Periñan MT, Amouri R, Ben Sassi S, Hentati F; Global Parkinson's Genetics Program (GP2); Tonelli F, Alessi DR, Farrer MJ. Gustavsson EK, et al. Among authors: hu mt. Lancet Neurol. 2024 Jun;23(6):603-614. doi: 10.1016/S1474-4422(24)00121-2. Epub 2024 Apr 10. Lancet Neurol. 2024. PMID: 38614108 Free article.
Network connectivity and structural correlates of survival in progressive supranuclear palsy and corticobasal syndrome.
Whiteside DJ, Street D, Murley AG, Jones PS, Malpetti M, Ghosh BCP, Coyle-Gilchrist I, Gerhard A, Hu MT, Klein JC, Leigh PN, Church A, Burn DJ, Morris HR, Rowe JB, Rittman T. Whiteside DJ, et al. Among authors: hu mt. Hum Brain Mapp. 2023 Aug 1;44(11):4239-4255. doi: 10.1002/hbm.26342. Epub 2023 Jun 3. Hum Brain Mapp. 2023. PMID: 37269181 Free PMC article.
174 results