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Translation initiator EIF4G1 mutations in familial Parkinson disease.
Chartier-Harlin MC, Dachsel JC, Vilariño-Güell C, Lincoln SJ, Leprêtre F, Hulihan MM, Kachergus J, Milnerwood AJ, Tapia L, Song MS, Le Rhun E, Mutez E, Larvor L, Duflot A, Vanbesien-Mailliot C, Kreisler A, Ross OA, Nishioka K, Soto-Ortolaza AI, Cobb SA, Melrose HL, Behrouz B, Keeling BH, Bacon JA, Hentati E, Williams L, Yanagiya A, Sonenberg N, Lockhart PJ, Zubair AC, Uitti RJ, Aasly JO, Krygowska-Wajs A, Opala G, Wszolek ZK, Frigerio R, Maraganore DM, Gosal D, Lynch T, Hutchinson M, Bentivoglio AR, Valente EM, Nichols WC, Pankratz N, Foroud T, Gibson RA, Hentati F, Dickson DW, Destée A, Farrer MJ. Chartier-Harlin MC, et al. Among authors: kachergus j. Am J Hum Genet. 2011 Sep 9;89(3):398-406. doi: 10.1016/j.ajhg.2011.08.009. Am J Hum Genet. 2011. PMID: 21907011 Free PMC article.
VPS35 mutations in Parkinson disease.
Vilariño-Güell C, Wider C, Ross OA, Dachsel JC, Kachergus JM, Lincoln SJ, Soto-Ortolaza AI, Cobb SA, Wilhoite GJ, Bacon JA, Behrouz B, Melrose HL, Hentati E, Puschmann A, Evans DM, Conibear E, Wasserman WW, Aasly JO, Burkhard PR, Djaldetti R, Ghika J, Hentati F, Krygowska-Wajs A, Lynch T, Melamed E, Rajput A, Rajput AH, Solida A, Wu RM, Uitti RJ, Wszolek ZK, Vingerhoets F, Farrer MJ. Vilariño-Güell C, et al. Among authors: kachergus jm. Am J Hum Genet. 2011 Jul 15;89(1):162-7. doi: 10.1016/j.ajhg.2011.06.001. Am J Hum Genet. 2011. PMID: 21763482 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.
Alpha-synuclein locus duplication as a cause of familial Parkinson's disease.
Chartier-Harlin MC, Kachergus J, Roumier C, Mouroux V, Douay X, Lincoln S, Levecque C, Larvor L, Andrieux J, Hulihan M, Waucquier N, Defebvre L, Amouyel P, Farrer M, Destée A. Chartier-Harlin MC, et al. Among authors: kachergus j. Lancet. 2004 Sep 25-Oct 1;364(9440):1167-9. doi: 10.1016/S0140-6736(04)17103-1. Lancet. 2004. PMID: 15451224
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
Lrrk2 mutations in South America: A study of Chilean Parkinson's disease.
Perez-Pastene C, Cobb SA, Díaz-Grez F, Hulihan MM, Miranda M, Venegas P, Godoy OT, Kachergus JM, Ross OA, Layson L, Farrer MJ, Segura-Aguilar J. Perez-Pastene C, et al. Among authors: kachergus jm. Neurosci Lett. 2007 Jul 18;422(3):193-7. doi: 10.1016/j.neulet.2007.06.021. Epub 2007 Jun 17. Neurosci Lett. 2007. PMID: 17614198 Free PMC article.
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.
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.
76 results