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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: hulihan mm. Mov Disord. 2007 Feb 15;22(3):389-92. doi: 10.1002/mds.21217. Mov Disord. 2007. PMID: 17216639
Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia.
Farrer MJ, Stone JT, Lin CH, Dächsel JC, Hulihan MM, Haugarvoll K, Ross OA, Wu RM. Farrer MJ, et al. Among authors: hulihan mm. Parkinsonism Relat Disord. 2007 Mar;13(2):89-92. doi: 10.1016/j.parkreldis.2006.12.001. Epub 2007 Jan 10. Parkinsonism Relat Disord. 2007. PMID: 17222580
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.
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: hulihan mm. Neurogenetics. 2005 Dec;6(4):171-7. doi: 10.1007/s10048-005-0005-1. Epub 2005 Sep 17. Neurogenetics. 2005. PMID: 16172858
PINK1 mutations and parkinsonism.
Ishihara-Paul L, Hulihan MM, Kachergus J, Upmanyu R, Warren L, Amouri R, Elango R, Prinjha RK, Soto A, Kefi M, Zouari M, Sassi SB, Yahmed SB, El Euch-Fayeche G, Matthews PM, Middleton LT, Gibson RA, Hentati F, Farrer MJ. Ishihara-Paul L, et al. Among authors: hulihan mm. Neurology. 2008 Sep 16;71(12):896-902. doi: 10.1212/01.wnl.0000323812.40708.1f. Epub 2008 Aug 6. Neurology. 2008. PMID: 18685134 Free PMC article.
75 results