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Page 1
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: real r. 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.
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: real r. 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: real r. 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: real r. 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: real r. 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.
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. Among authors: real r. medRxiv [Preprint]. 2023 Oct 27:2023.10.17.23297157. doi: 10.1101/2023.10.17.23297157. medRxiv. 2023. PMID: 37987016 Free PMC article. Preprint.
Genotype-phenotype correlation in PRKN-associated Parkinson's disease.
Menon PJ, Sambin S, Criniere-Boizet B, Courtin T, Tesson C, Casse F, Ferrien M, Mariani LL, Carvalho S, Lejeune FX, Rebbah S, Martet G, Houot M, Lanore A, Mangone G, Roze E, Vidailhet M, Aasly J, Gan Or Z, Yu E, Dauvilliers Y, Zimprich A, Tomantschger V, Pirker W, Álvarez I, Pastor P, Di Fonzo A, Bhatia KP, Magrinelli F, Houlden H, Real R, Quattrone A, Limousin P, Korlipara P, Foltynie T, Grosset D, Williams N, Narendra D, Lin HP, Jovanovic C, Svetel M, Lynch T, Gallagher A, Vandenberghe W, Gasser T, Brockmann K, Morris HR, Borsche M, Klein C, Corti O, Brice A, Lesage S, Corvol JC; French Parkinson disease Genetics Study Group (PDG). Menon PJ, et al. Among authors: real r. NPJ Parkinsons Dis. 2024 Mar 29;10(1):72. doi: 10.1038/s41531-024-00677-3. NPJ Parkinsons Dis. 2024. PMID: 38553467 Free PMC article.
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: real r. 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.
ATP10B and the risk for Parkinson's disease.
Real R, Moore A, Blauwendraat C, Morris HR, Bandres-Ciga S; International Parkinson’s Disease Genomics Consortium (IPDGC). Real R, et al. Acta Neuropathol. 2020 Sep;140(3):401-402. doi: 10.1007/s00401-020-02172-4. Epub 2020 Jun 15. Acta Neuropathol. 2020. PMID: 32556962 Free PMC article. No abstract available.
172 results