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The pathogenesis of Parkinson's disease.
Morris HR, Spillantini MG, Sue CM, Williams-Gray CH. Morris HR, et al. Lancet. 2024 Jan 20;403(10423):293-304. doi: 10.1016/S0140-6736(23)01478-2. Lancet. 2024. PMID: 38245249 Review.
Diagnostic criteria for mild cognitive impairment in Parkinson's disease: Movement Disorder Society Task Force guidelines.
Litvan I, Goldman JG, Tröster AI, Schmand BA, Weintraub D, Petersen RC, Mollenhauer B, Adler CH, Marder K, Williams-Gray CH, Aarsland D, Kulisevsky J, Rodriguez-Oroz MC, Burn DJ, Barker RA, Emre M. Litvan I, et al. Mov Disord. 2012 Mar;27(3):349-56. doi: 10.1002/mds.24893. Epub 2012 Jan 24. Mov Disord. 2012. PMID: 22275317 Free PMC article. Review.
Mitochondrial haplogroups and cognitive progression in Parkinson's disease.
Liu G, Ni C, Zhan J, Li W, Luo J, Liao Z, Locascio JJ, Xian W, Chen L, Pei Z, Corvol JC, Maple-Grødem J, Campbell MC, Elbaz A, Lesage S, Brice A, Hung AY, Schwarzschild MA, Hayes MT, Wills AM, Ravina B, Shoulson I, Taba P, Kõks S, Beach TG, Cormier-Dequaire F, Alves G, Tysnes OB, Perlmutter JS, Heutink P, van Hilten JJ, Barker RA, Williams-Gray CH, Scherzer CR; International Genetics of Parkinson Disease Progression (IGPP) Consortium. Liu G, et al. Brain. 2023 Jan 5;146(1):42-49. doi: 10.1093/brain/awac327. Brain. 2023. PMID: 36343661 Free PMC article.
In the combined analysis, patients with the super macro-haplogroup J, T, U# had a 41% lower risk of cognitive progression with P = 2.42 10-6 compared to those with macro-haplogroup H. Exploratory analysis indicated that the common mitochondrial DNA variant, m.2706A>G, w …
In the combined analysis, patients with the super macro-haplogroup J, T, U# had a 41% lower risk of cognitive progression with P = 2.42 10-6 …
Disease modification and biomarker development in Parkinson disease: Revision or reconstruction?
Espay AJ, Kalia LV, Gan-Or Z, Williams-Gray CH, Bedard PL, Rowe SM, Morgante F, Fasano A, Stecher B, Kauffman MA, Farrer MJ, Coffey CS, Schwarzschild MA, Sherer T, Postuma RB, Strafella AP, Singleton AB, Barker RA, Kieburtz K, Olanow CW, Lozano A, Kordower JH, Cedarbaum JM, Brundin P, Standaert DG, Lang AE. Espay AJ, et al. Neurology. 2020 Mar 17;94(11):481-494. doi: 10.1212/WNL.0000000000009107. Epub 2020 Feb 26. Neurology. 2020. PMID: 32102975 Free PMC article. Review.
[(11)C]PK11195-PET Brain Imaging of the Mitochondrial Translocator Protein in Mitochondrial Disease.
van den Ameele J, Hong YT, Manavaki R, Kouli A, Biggs H, MacIntyre Z, Horvath R, Yu-Wai-Man P, Reid E, Williams-Gray CH, Bullmore ET, Aigbirhio FI, Fryer TD, Chinnery PF. van den Ameele J, et al. Neurology. 2021 May 31;96(22):e2761-e2773. doi: 10.1212/WNL.0000000000012033. Neurology. 2021. PMID: 33883237 Free PMC article.
METHODS: Case-control study of brain PET-MRI with the TSPO radioligand [(11)C]PK11195. RESULTS: Forty-six percent of symptomatic patients had volumes of abnormal radiotracer binding greater than the 95th percentile in controls. [(11)C]PK11195 binding was generally g …
METHODS: Case-control study of brain PET-MRI with the TSPO radioligand [(11)C]PK11195. RESULTS: Forty-six percent of symptomatic pati …
Genetic Basis of Differential Heat Resistance between Two Species of Congeneric Freshwater Snails: Insights from Quantitative Proteomics and Base Substitution Rate Analysis.
Mu H, Sun J, Fang L, Luan T, Williams GA, Cheung SG, Wong CK, Qiu JW. Mu H, et al. J Proteome Res. 2015 Oct 2;14(10):4296-308. doi: 10.1021/acs.jproteome.5b00462. Epub 2015 Aug 28. J Proteome Res. 2015. PMID: 26290311
More than 3350 proteins were identified from the hepatopancreas of the snails exposed to acute and chronic thermal stress using iTRAQ-coupled mass spectrometry. Acute exposure (3 h exposure at 37 C with 25 C as control) resulted in similar numbers (27 in P. c …
More than 3350 proteins were identified from the hepatopancreas of the snails exposed to acute and chronic thermal stress using iTRAQ-couple …
Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohorts.
Iwaki H, Blauwendraat C, Leonard HL, Liu G, Maple-Grødem J, Corvol JC, Pihlstrøm L, van Nimwegen M, Hutten SJ, Nguyen KH, Rick J, Eberly S, Faghri F, Auinger P, Scott KM, Wijeyekoon R, Van Deerlin VM, Hernandez DG, Day-Williams AG, Brice A, Alves G, Noyce AJ, Tysnes OB, Evans JR, Breen DP, Estrada K, Wegel CE, Danjou F, Simon DK, Ravina B, Toft M, Heutink P, Bloem BR, Weintraub D, Barker RA, Williams-Gray CH, van de Warrenburg BP, Van Hilten JJ, Scherzer CR, Singleton AB, Nalls MA. Iwaki H, et al. Neurol Genet. 2019 Jul 9;5(4):e348. doi: 10.1212/NXG.0000000000000348. eCollection 2019 Aug. Neurol Genet. 2019. PMID: 31404238 Free PMC article.
The other genotype-phenotype associations include an intergenic variant near LRRK2 and the faster development of motor symptom (Hoehn and Yahr scale 3.0 HR 1.33 [1.16-1.52] for the C allele of rs76904798) and an intronic variant in PMVK and the development of wearing-off e …
The other genotype-phenotype associations include an intergenic variant near LRRK2 and the faster development of motor symptom (Hoehn and Ya …
Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease.
Hudson G, Nalls M, Evans JR, Breen DP, Winder-Rhodes S, Morrison KE, Morris HR, Williams-Gray CH, Barker RA, Singleton AB, Hardy J, Wood NE, Burn DJ, Chinnery PF. Hudson G, et al. Neurology. 2013 May 28;80(22):2042-8. doi: 10.1212/WNL.0b013e318294b434. Epub 2013 May 3. Neurology. 2013. PMID: 23645593 Free PMC article.
METHODS: Two-stage genetic association study of 138 common mtDNA variants in 3,074 PD cases and 5,659 ethnically matched controls followed by meta-analysis of 6,140 PD cases and 13,280 controls. RESULTS: In the association study, m.2158T>C and m.11251A>G were associa …
METHODS: Two-stage genetic association study of 138 common mtDNA variants in 3,074 PD cases and 5,659 ethnically matched controls followed b …
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
Jansen IE, Ye H, Heetveld S, Lechler MC, Michels H, Seinstra RI, Lubbe SJ, Drouet V, Lesage S, Majounie E, Gibbs JR, Nalls MA, Ryten M, Botia JA, Vandrovcova J, Simon-Sanchez J, Castillo-Lizardo M, Rizzu P, Blauwendraat C, Chouhan AK, Li Y, Yogi P, Amin N, van Duijn CM; International Parkinson’s Disease Genetics Consortium (IPGDC); Morris HR, Brice A, Singleton AB, David DC, Nollen EA, Jain S, Shulman JM, Heutink P. Jansen IE, et al. Genome Biol. 2017 Jan 30;18(1):22. doi: 10.1186/s13059-017-1147-9. Genome Biol. 2017. PMID: 28137300 Free PMC article.
Candidate genes were subsequently validated for functions relevant to PD based on parallel RNA-interference (RNAi) screens in human cell culture and Drosophila and C. elegans models. RESULTS: Assuming autosomal recessive inheritance, we identify 27 genes that have homozygo …
Candidate genes were subsequently validated for functions relevant to PD based on parallel RNA-interference (RNAi) screens in human cell cul …