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The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.
Latourelle JC, Sun M, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Goldwurm S, Pezzoli G, Zini M, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Laramie JM, DeStefano AL, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Latourelle JC, et al. Among authors: destefano al, al hinti j. BMC Med. 2008 Nov 5;6:32. doi: 10.1186/1741-7015-6-32. BMC Med. 2008. PMID: 18986508 Free PMC article.
PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study.
DeStefano AL, Lew MF, Golbe LI, Mark MH, Lazzarini AM, Guttman M, Montgomery E, Waters CH, Singer C, Watts RL, Currie LJ, Wooten GF, Maher NE, Wilk JB, Sullivan KM, Slater KM, Saint-Hilaire MH, Feldman RG, Suchowersky O, Lafontaine AL, Labelle N, Growdon JH, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Reider CR, Stacy M, MacDonald ME, Gusella JF, Myers RH. DeStefano AL, et al. Am J Hum Genet. 2002 May;70(5):1089-95. doi: 10.1086/339814. Epub 2002 Mar 27. Am J Hum Genet. 2002. PMID: 11920285 Free PMC article.
Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study.
Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF. Sun M, et al. Among authors: destefano al. Arch Neurol. 2006 Jun;63(6):826-32. doi: 10.1001/archneur.63.6.826. Arch Neurol. 2006. PMID: 16769863
Sepiapterin reductase expression is increased in Parkinson's disease brain tissue.
Tobin JE, Cui J, Wilk JB, Latourelle JC, Laramie JM, McKee AC, Guttman M, Karamohamed S, DeStefano AL, Myers RH. Tobin JE, et al. Among authors: destefano al. Brain Res. 2007 Mar 30;1139:42-7. doi: 10.1016/j.brainres.2007.01.001. Epub 2007 Jan 8. Brain Res. 2007. PMID: 17270157 Free PMC article.
The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports.
Cupples LA, Arruda HT, Benjamin EJ, D'Agostino RB Sr, Demissie S, DeStefano AL, Dupuis J, Falls KM, Fox CS, Gottlieb DJ, Govindaraju DR, Guo CY, Heard-Costa NL, Hwang SJ, Kathiresan S, Kiel DP, Laramie JM, Larson MG, Levy D, Liu CY, Lunetta KL, Mailman MD, Manning AK, Meigs JB, Murabito JM, Newton-Cheh C, O'Connor GT, O'Donnell CJ, Pandey M, Seshadri S, Vasan RS, Wang ZY, Wilk JB, Wolf PA, Yang Q, Atwood LD. Cupples LA, et al. Among authors: destefano al. BMC Med Genet. 2007;8 Suppl 1(Suppl 1):S1. doi: 10.1186/1471-2350-8-S1-S1. BMC Med Genet. 2007. PMID: 17903291 Free PMC article.
Replication of association between ELAVL4 and Parkinson disease: the GenePD study.
DeStefano AL, Latourelle J, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts R, Guttman M, Racette BA, Perlmutter JS, Marlor L, Shill HA, Singer C, Goldwurm S, Pezzoli G, Saint-Hilaire MH, Hendricks AE, Gower A, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-Hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. DeStefano AL, et al. Among authors: al hinti j. Hum Genet. 2008 Aug;124(1):95-9. doi: 10.1007/s00439-008-0526-4. Epub 2008 Jun 29. Hum Genet. 2008. PMID: 18587682 Free PMC article.
169 results