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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
alpha-Synuclein locus triplication causes Parkinson's disease.
Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J, Gwinn-Hardy K. Singleton AB, et al. Among authors: singleton a. Science. 2003 Oct 31;302(5646):841. doi: 10.1126/science.1090278. Science. 2003. PMID: 14593171 No abstract available.
No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found.
Johnson J, Ostojic J, Lannfelt L, Glaser A, Basun H, Rogaeva E, Kawarai T, Bruni A, St George Hyslop PH, Goate A, Pastor P, Chakraverty S, Norton J, Morris JC, Hardy J, Singleton A. Johnson J, et al. Neurosci Lett. 2004 Jun 10;363(2):99-101. doi: 10.1016/j.neulet.2004.03.070. Neurosci Lett. 2004. PMID: 15172093
534 results