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Page 1
Characterization of DCTN1 genetic variability in neurodegeneration.
Vilariño-Güell C, Wider C, Soto-Ortolaza AI, Cobb SA, Kachergus JM, Keeling BH, Dachsel JC, Hulihan MM, Dickson DW, Wszolek ZK, Uitti RJ, Graff-Radford NR, Boeve BF, Josephs KA, Miller B, Boylan KB, Gwinn K, Adler CH, Aasly JO, Hentati F, Destée A, Krygowska-Wajs A, Chartier-Harlin MC, Ross OA, Rademakers R, Farrer MJ. Vilariño-Güell C, et al. Among authors: kachergus jm. Neurology. 2009 Jun 9;72(23):2024-8. doi: 10.1212/WNL.0b013e3181a92c4c. Neurology. 2009. PMID: 19506225 Free PMC article.
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.
Genomic investigation of alpha-synuclein multiplication and parkinsonism.
Ross OA, Braithwaite AT, Skipper LM, Kachergus J, Hulihan MM, Middleton FA, Nishioka K, Fuchs J, Gasser T, Maraganore DM, Adler CH, Larvor L, Chartier-Harlin MC, Nilsson C, Langston JW, Gwinn K, Hattori N, Farrer MJ. Ross OA, et al. Ann Neurol. 2008 Jun;63(6):743-50. doi: 10.1002/ana.21380. Ann Neurol. 2008. PMID: 18571778 Free PMC article.
LRRK2 mutations in Parkinson disease.
Farrer M, Stone J, Mata IF, Lincoln S, Kachergus J, Hulihan M, Strain KJ, Maraganore DM. Farrer M, et al. Neurology. 2005 Sep 13;65(5):738-40. doi: 10.1212/01.wnl.0000169023.51764.b0. Neurology. 2005. PMID: 16157908
LRRK2 mutations are a common cause of Parkinson's disease in Spain.
Mata IF, Ross OA, Kachergus J, Huerta C, Ribacoba R, Moris G, Blazquez M, Guisasola LM, Salvador C, Martinez C, Farrer M, Alvarez V. Mata IF, et al. Eur J Neurol. 2006 Apr;13(4):391-4. doi: 10.1111/j.1468-1331.2006.01256.x. Eur J Neurol. 2006. PMID: 16643318
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
77 results