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Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia.
Bonham LW, Steele NZR, Karch CM, Broce I, Geier EG, Wen NL, Momeni P, Hardy J, Miller ZA, Gorno-Tempini ML, Hess CP, Lewis P, Miller BL, Seeley WW, Manzoni C, Desikan RS, Baranzini SE, Ferrari R, Yokoyama JS; International FTD-Genomics Consortium (IFGC). Bonham LW, et al. Among authors: hardy j. Sci Rep. 2019 Jul 26;9(1):10854. doi: 10.1038/s41598-019-46415-1. Sci Rep. 2019. PMID: 31350420 Free PMC article.
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. Among authors: hardy j. 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. Among authors: hardy j. Ann Neurol. 2003 Aug;54(2):271-4. doi: 10.1002/ana.10663. Ann Neurol. 2003. PMID: 12891685
Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation.
Pickering-Brown S, Baker M, Bird T, Trojanowski J, Lee V, Morris H, Rossor M, Janssen JC, Neary D, Craufurd D, Richardson A, Snowden J, Hardy J, Mann D, Hutton M. Pickering-Brown S, et al. Among authors: hardy j. Am J Med Genet B Neuropsychiatr Genet. 2004 Feb 15;125B(1):79-82. doi: 10.1002/ajmg.b.20083. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 14755449
Torsin A haplotype predisposes to idiopathic dystonia.
Clarimon J, Asgeirsson H, Singleton A, Jakobsson F, Hjaltason H, Hardy J, Sveinbjornsdottir S. Clarimon J, et al. Among authors: hardy j. Ann Neurol. 2005 May;57(5):765-7. doi: 10.1002/ana.20485. Ann Neurol. 2005. PMID: 15852391
Association studies between risk for late-onset Alzheimer's disease and variants in insulin degrading enzyme.
Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell T, Holmans P, Hamshere M, Turic D, Jehu L, Hollingworth P, Moore P, Bryden L, Myers A, Doil LM, Tacey KM, Gibson AM, McKeith IG, Perry RH, Morris CM, Thal L, Morris JC, O'Donovan MC, Lovestone S, Grupe A, Hardy J, Owen MJ, Williams J, Goate A. Nowotny P, et al. Among authors: hardy j. Am J Med Genet B Neuropsychiatr Genet. 2005 Jul 5;136B(1):62-8. doi: 10.1002/ajmg.b.30186. Am J Med Genet B Neuropsychiatr Genet. 2005. PMID: 15858813
3,482 results