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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: kachergus jm. Neurogenetics. 2005 Dec;6(4):171-7. doi: 10.1007/s10048-005-0005-1. Epub 2005 Sep 17. Neurogenetics. 2005. PMID: 16172858
Fine-mapping and candidate gene investigation within the PARK10 locus.
Haugarvoll K, Toft M, Skipper L, Heckman MG, Crook JE, Soto A, Ross OA, Hulihan MM, Kachergus JM, Sando SB, White LR, Lynch T, Gibson JM, Uitti RJ, Wszolek ZK, Aasly JO, Farrer MJ. Haugarvoll K, et al. Among authors: kachergus jm. Eur J Hum Genet. 2009 Mar;17(3):336-43. doi: 10.1038/ejhg.2008.187. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854859 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.
LRRK2 R1441G in Spanish patients with Parkinson's disease.
Mata IF, Taylor JP, Kachergus J, Hulihan M, Huerta C, Lahoz C, Blazquez M, Guisasola LM, Salvador C, Ribacoba R, Martinez C, Farrer M, Alvarez V. Mata IF, et al. Among authors: kachergus j. Neurosci Lett. 2005 Jul 15;382(3):309-11. doi: 10.1016/j.neulet.2005.03.033. Epub 2005 Apr 13. Neurosci Lett. 2005. PMID: 15925109
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
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.
Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease.
Dachsel JC, Nishioka K, Vilariño-Güell C, Lincoln SJ, Soto-Ortolaza AI, Kachergus J, Hinkle KM, Heckman MG, Jasinska-Myga B, Taylor JP, Dickson DW, Gibson RA, Hentati F, Ross OA, Farrer MJ. Dachsel JC, et al. Among authors: kachergus j. Mech Ageing Dev. 2010 Mar;131(3):210-4. doi: 10.1016/j.mad.2010.01.009. Epub 2010 Feb 6. Mech Ageing Dev. 2010. PMID: 20144646 Free PMC article.
76 results