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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: cobb sa. 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: cobb sa. 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.
Genomewide association, Parkinson disease, and PARK10.
Farrer MJ, Haugarvoll K, Ross OA, Stone JT, Milkovic NM, Cobb SA, Whittle AJ, Lincoln SJ, Hulihan MM, Heckman MG, White LR, Aasly JO, Gibson JM, Gosal D, Lynch T, Wszolek ZK, Uitti RJ, Toft M. Farrer MJ, et al. Among authors: cobb sa. Am J Hum Genet. 2006 Jun;78(6):1084-8; author reply 1092-4. doi: 10.1086/504728. Am J Hum Genet. 2006. PMID: 16685661 Free PMC article. No abstract available.
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: cobb sa. 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.
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: cobb sa. 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: cobb sa. 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.
Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.
Aasly JO, Vilariño-Güell C, Dachsel JC, Webber PJ, West AB, Haugarvoll K, Johansen KK, Toft M, Nutt JG, Payami H, Kachergus JM, Lincoln SJ, Felic A, Wider C, Soto-Ortolaza AI, Cobb SA, White LR, Ross OA, Farrer MJ. Aasly JO, et al. Among authors: cobb sa. Mov Disord. 2010 Oct 15;25(13):2156-63. doi: 10.1002/mds.23265. Mov Disord. 2010. PMID: 20669305 Free PMC article.
35 results