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Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.
Bras J, Guerreiro R, Darwent L, Parkkinen L, Ansorge O, Escott-Price V, Hernandez DG, Nalls MA, Clark LN, Honig LS, Marder K, Van Der Flier WM, Lemstra A, Scheltens P, Rogaeva E, St George-Hyslop P, Londos E, Zetterberg H, Ortega-Cubero S, Pastor P, Ferman TJ, Graff-Radford NR, Ross OA, Barber I, Braae A, Brown K, Morgan K, Maetzler W, Berg D, Troakes C, Al-Sarraj S, Lashley T, Compta Y, Revesz T, Lees A, Cairns N, Halliday GM, Mann D, Pickering-Brown S, Dickson DW, Singleton A, Hardy J. Bras J, et al. Among authors: hardy j. Hum Mol Genet. 2014 Dec 1;23(23):6139-46. doi: 10.1093/hmg/ddu334. Epub 2014 Jun 27. Hum Mol Genet. 2014. PMID: 24973356 Free PMC article.
Phenomenology of "Lubag" or X-linked dystonia-parkinsonism.
Evidente VG, Advincula J, Esteban R, Pasco P, Alfon JA, Natividad FF, Cuanang J, Luis AS, Gwinn-Hardy K, Hardy J, Hernandez D, Singleton A. Evidente VG, et al. Among authors: hardy j. Mov Disord. 2002 Nov;17(6):1271-7. doi: 10.1002/mds.10271. Mov Disord. 2002. PMID: 12465067
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
The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval.
Zimprich A, Müller-Myhsok B, Farrer M, Leitner P, Sharma M, Hulihan M, Lockhart P, Strongosky A, Kachergus J, Calne DB, Stoessl J, Uitti RJ, Pfeiffer RF, Trenkwalder C, Homann N, Ott E, Wenzel K, Asmus F, Hardy J, Wszolek Z, Gasser T. Zimprich A, et al. Among authors: hardy j. Am J Hum Genet. 2004 Jan;74(1):11-9. doi: 10.1086/380647. Epub 2003 Dec 19. Am J Hum Genet. 2004. PMID: 14691730 Free PMC article.
3,441 results