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A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample.
Buervenich S, Carmine A, Galter D, Shahabi HN, Johnels B, Holmberg B, Ahlberg J, Nissbrandt H, Eerola J, Hellström O, Tienari PJ, Matsuura T, Ashizawa T, Wüllner U, Klockgether T, Zimprich A, Gasser T, Hanson M, Waseem S, Singleton A, McMahon FJ, Anvret M, Sydow O, Olson L. Buervenich S, et al. Among authors: singleton a. Arch Neurol. 2005 Jan;62(1):74-8. doi: 10.1001/archneur.62.1.74. Arch Neurol. 2005. PMID: 15642852
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: singleton a. 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
SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies.
Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Evans EW, Singleton AA, McInerney-Leo A, Nussbaum RL, Hernandez DG, Gallardo M, McKeith IG, Burn DJ, Ryu M, Hellstrom O, Ravina B, Eerola J, Perry RH, Jaros E, Tienari P, Weiser R, Gwinn-Hardy K, Morris CM, Hardy J, Singleton AB. Johnson J, et al. Among authors: singleton ab, singleton aa. Neurology. 2004 Aug 10;63(3):554-6. doi: 10.1212/01.wnl.0000133401.09043.44. Neurology. 2004. PMID: 15304594
The tau H2 haplotype is almost exclusively Caucasian in origin.
Evans W, Fung HC, Steele J, Eerola J, Tienari P, Pittman A, Silva Rd, Myers A, Vrieze FW, Singleton A, Hardy J. Evans W, et al. Among authors: singleton a. Neurosci Lett. 2004 Oct 21;369(3):183-5. doi: 10.1016/j.neulet.2004.05.119. Neurosci Lett. 2004. PMID: 15464261
1,043 results