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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.
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.
LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease.
Vilariño-Güell C, Wider C, Ross OA, Jasinska-Myga B, Kachergus J, Cobb SA, Soto-Ortolaza AI, Behrouz B, Heckman MG, Diehl NN, Testa CM, Wszolek ZK, Uitti RJ, Jankovic J, Louis ED, Clark LN, Rajput A, Farrer MJ. Vilariño-Güell C, et al. Neurogenetics. 2010 Oct;11(4):401-8. doi: 10.1007/s10048-010-0241-x. Epub 2010 Apr 6. Neurogenetics. 2010. PMID: 20369371 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
DCTN1 mutations in Perry syndrome.
Farrer MJ, Hulihan MM, Kachergus JM, Dächsel JC, Stoessl AJ, Grantier LL, Calne S, Calne DB, Lechevalier B, Chapon F, Tsuboi Y, Yamada T, Gutmann L, Elibol B, Bhatia KP, Wider C, Vilariño-Güell C, Ross OA, Brown LA, Castanedes-Casey M, Dickson DW, Wszolek ZK. Farrer MJ, et al. Among authors: kachergus jm. Nat Genet. 2009 Feb;41(2):163-5. doi: 10.1038/ng.293. Epub 2009 Jan 11. Nat Genet. 2009. PMID: 19136952 Free PMC article.
LINGO1 rs9652490 is associated with essential tremor and Parkinson disease.
Vilariño-Güell C, Ross OA, Wider C, Jasinska-Myga B, Cobb SA, Soto-Ortolaza AI, Kachergus JM, Keeling BH, Dachsel JC, Melrose HL, Behrouz B, Wszolek ZK, Uitti RJ, Aasly JO, Rajput A, Farrer MJ. Vilariño-Güell C, et al. Among authors: kachergus jm. Parkinsonism Relat Disord. 2010 Feb;16(2):109-11. doi: 10.1016/j.parkreldis.2009.08.006. Epub 2009 Aug 31. Parkinsonism Relat Disord. 2010. PMID: 19720553 Free PMC article.
Association of alpha-, beta-, and gamma-Synuclein with diffuse lewy body disease.
Nishioka K, Wider C, Vilariño-Güell C, Soto-Ortolaza AI, Lincoln SJ, Kachergus JM, Jasinska-Myga B, Ross OA, Rajput A, Robinson CA, Ferman TJ, Wszolek ZK, Dickson DW, Farrer MJ. Nishioka K, et al. Among authors: kachergus jm. Arch Neurol. 2010 Aug;67(8):970-5. doi: 10.1001/archneurol.2010.177. Arch Neurol. 2010. PMID: 20697047 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.
76 results