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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: nichols wc. 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.
Significant linkage of Parkinson disease to chromosome 2q36-37.
Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C, Conneally PM, Foroud T; Parkinson Study Group. Pankratz N, et al. Among authors: nichols wc. Am J Hum Genet. 2003 Apr;72(4):1053-7. doi: 10.1086/374383. Epub 2003 Mar 13. Am J Hum Genet. 2003. PMID: 12638082 Free PMC article.
Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.
Ishihara L, Warren L, Gibson R, Amouri R, Lesage S, Dürr A, Tazir M, Wszolek ZK, Uitti RJ, Nichols WC, Griffith A, Hattori N, Leppert D, Watts R, Zabetian CP, Foroud TM, Farrer MJ, Brice A, Middleton L, Hentati F. Ishihara L, et al. Among authors: nichols wc. Arch Neurol. 2006 Sep;63(9):1250-4. doi: 10.1001/archneur.63.9.1250. Arch Neurol. 2006. PMID: 16966502
Alpha-synuclein and familial Parkinson's disease.
Pankratz N, Nichols WC, Elsaesser VE, Pauciulo MW, Marek DK, Halter CA, Wojcieszek J, Rudolph A, Pfeiffer RF, Foroud T; Parkinson Study Group - PROGENI Investigators. Pankratz N, et al. Among authors: nichols wc. Mov Disord. 2009 Jun 15;24(8):1125-31. doi: 10.1002/mds.22524. Mov Disord. 2009. PMID: 19412953 Free PMC article.
Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease.
Nichols WC, Pankratz N, Hernandez D, Paisán-Ruíz C, Jain S, Halter CA, Michaels VE, Reed T, Rudolph A, Shults CW, Singleton A, Foroud T; Parkinson Study Group-PROGENI investigators. Nichols WC, et al. Lancet. 2005 Jan 29-Feb 4;365(9457):410-2. doi: 10.1016/S0140-6736(05)17828-3. Lancet. 2005. PMID: 15680455
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: nichols wc. 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.
Mutations in DJ-1 are rare in familial Parkinson disease.
Pankratz N, Pauciulo MW, Elsaesser VE, Marek DK, Halter CA, Wojcieszek J, Rudolph A, Shults CW, Foroud T, Nichols WC; Parkinson Study Group - PROGENI Investigators. Pankratz N, et al. Among authors: nichols wc. Neurosci Lett. 2006 Nov 20;408(3):209-13. doi: 10.1016/j.neulet.2006.09.003. Epub 2006 Sep 25. Neurosci Lett. 2006. PMID: 16997464 Free PMC article.
178 results