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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: singleton ab. Brain. 2023 Nov 2;146(11):4622-4632. doi: 10.1093/brain/awad214. Brain. 2023. PMID: 37348876 Free PMC article.
Transfected synphilin-1 forms cytoplasmic inclusions in HEK293 cells.
O'Farrell C, Murphy DD, Petrucelli L, Singleton AB, Hussey J, Farrer M, Hardy J, Dickson DW, Cookson MR. O'Farrell C, et al. Among authors: singleton ab. Brain Res Mol Brain Res. 2001 Dec 16;97(1):94-102. doi: 10.1016/s0169-328x(01)00292-3. Brain Res Mol Brain Res. 2001. PMID: 11744167
Genes and parkinsonism.
Hardy J, Cookson MR, Singleton A. Hardy J, et al. Lancet Neurol. 2003 Apr;2(4):221-8. doi: 10.1016/s1474-4422(03)00350-8. Lancet Neurol. 2003. PMID: 12849210 Review.
Mutation at the SCA17 locus is not a common cause of parkinsonism.
Hernandez D, Hanson M, Singleton A, Gwinn-Hardy K, Freeman J, Ravina B, Doheny D, Gallardo M, Weiser R, Hardy J, Singleton A. Hernandez D, et al. Parkinsonism Relat Disord. 2003 Aug;9(6):317-20. doi: 10.1016/s1353-8020(03)00027-0. Parkinsonism Relat Disord. 2003. PMID: 12853230
Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.
Hague S, Rogaeva E, Hernandez D, Gulick C, Singleton A, Hanson M, Johnson J, Weiser R, Gallardo M, Ravina B, Gwinn-Hardy K, Crawley A, St George-Hyslop PH, Lang AE, Heutink P, Bonifati V, Hardy J, Singleton A. Hague S, et al. Ann Neurol. 2003 Aug;54(2):271-4. doi: 10.1002/ana.10663. Ann Neurol. 2003. PMID: 12891685
Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD.
Eerola J, Hernandez D, Launes J, Hellström O, Hague S, Gulick C, Johnson J, Peuralinna T, Hardy J, Tienari PJ, Singleton AB. Eerola J, et al. Among authors: singleton ab. Neurology. 2003 Oct 14;61(7):1000-2. doi: 10.1212/01.wnl.0000083992.28066.7e. Neurology. 2003. PMID: 14557580
495 results