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Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.
Ross OA, Spanaki C, Griffith A, Lin CH, Kachergus J, Haugarvoll K, Latsoudis H, Plaitakis A, Ferreira JJ, Sampaio C, Bonifati V, Wu RM, Zabetian CP, Farrer MJ. Ross OA, et al. Among authors: kachergus j. Parkinsonism Relat Disord. 2009 Jul;15(6):466-7. doi: 10.1016/j.parkreldis.2008.09.001. Epub 2008 Oct 26. Parkinsonism Relat Disord. 2009. PMID: 18952485 Free PMC article.
Lrrk2 pathogenic substitutions in Parkinson's disease.
Mata IF, Kachergus JM, Taylor JP, Lincoln S, Aasly J, Lynch T, Hulihan MM, Cobb SA, Wu RM, Lu CS, Lahoz C, Wszolek ZK, Farrer MJ. Mata IF, et al. Among authors: kachergus jm. Neurogenetics. 2005 Dec;6(4):171-7. doi: 10.1007/s10048-005-0005-1. Epub 2005 Sep 17. Neurogenetics. 2005. PMID: 16172858
Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson's disease.
Nishioka K, Vilariño-Güell C, Cobb SA, Kachergus JM, Ross OA, Hentati E, Hentati F, Farrer MJ. Nishioka K, et al. Among authors: kachergus jm. Parkinsonism Relat Disord. 2010 Dec;16(10):686-7. doi: 10.1016/j.parkreldis.2010.09.007. Epub 2010 Oct 23. Parkinsonism Relat Disord. 2010. PMID: 20971673 Free PMC article.
EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population.
Nishioka K, Funayama M, Vilariño-Güell C, Ogaki K, Li Y, Sasaki R, Kokubo Y, Kuzuhara S, Kachergus JM, Cobb SA, Takahashi H, Mizuno Y, Farrer MJ, Ross OA, Hattori N. Nishioka K, et al. Among authors: kachergus jm. Parkinsonism Relat Disord. 2014 Jun;20(6):659-61. doi: 10.1016/j.parkreldis.2014.03.004. Epub 2014 Mar 18. Parkinsonism Relat Disord. 2014. PMID: 24704100 Free PMC article.
Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.
Haugarvoll K, Rademakers R, Kachergus JM, Nuytemans K, Ross OA, Gibson JM, Tan EK, Gaig C, Tolosa E, Goldwurm S, Guidi M, Riboldazzi G, Brown L, Walter U, Benecke R, Berg D, Gasser T, Theuns J, Pals P, Cras P, De Deyn PP, Engelborghs S, Pickut B, Uitti RJ, Foroud T, Nichols WC, Hagenah J, Klein C, Samii A, Zabetian CP, Bonifati V, Van Broeckhoven C, Farrer MJ, Wszolek ZK. Haugarvoll K, et al. Among authors: kachergus jm. Neurology. 2008 Apr 15;70(16 Pt 2):1456-60. doi: 10.1212/01.wnl.0000304044.22253.03. Epub 2008 Mar 12. Neurology. 2008. PMID: 18337586 Free PMC article.
Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations.
Kachergus J, Mata IF, Hulihan M, Taylor JP, Lincoln S, Aasly J, Gibson JM, Ross OA, Lynch T, Wiley J, Payami H, Nutt J, Maraganore DM, Czyzewski K, Styczynska M, Wszolek ZK, Farrer MJ, Toft M. Kachergus J, et al. Am J Hum Genet. 2005 Apr;76(4):672-80. doi: 10.1086/429256. Epub 2005 Feb 22. Am J Hum Genet. 2005. PMID: 15726496 Free PMC article.
Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease.
Toft M, Mata IF, Ross OA, Kachergus J, Hulihan MM, Haugarvoll K, Stone JT, Blazquez M, Gibson JM, Aasly JO, White LR, Lynch T, Adler CH, Gwinn-Hardy K, Farrer MJ. Toft M, et al. Among authors: kachergus j. Mov Disord. 2007 Feb 15;22(3):389-92. doi: 10.1002/mds.21217. Mov Disord. 2007. PMID: 17216639
76 results