Now showing items 1-5 of 5

    • 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 (2008)
      BACKGROUND: We report age-dependent penetrance estimates for leucine-rich repeat kinase 2 (LRRK2)-related Parkinson's disease (PD) in a large sample of familial PD. The most frequently seen LRRK2 mutation, Gly2019Ser ...
    • Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study 

      Tobin JE; Latourelle JC; Lew MF; Klein C; Suchowersky O; Shill HA; Golbe LI; Mark MH; Growdon JH; Wooten GF; Racette BA; Perlmutter JS; Watts R; Guttman M; Baker KB; Goldwurm S; Pezzoli G; Singer C; Saint-Hilaire MH; Hendricks AE; Williamson S; Nagle MW; Wilk JB; Massood T; Laramie JM; DeStefano AL; Litvan I; Nicholson G; Corbett A; Isaacson S; Burn DJ; Chinnery PF; Pramstaller PP; Sherman S; Al-Hinti J; Drasby E; Nance M; Moller AT; Ostergaard K; Roxburgh R; Snow B; Slevin JT; Cambi F; Gusella JF; Myers RH (2008)
      BACKGROUND: Microtubule-associated protein tau (MAPT) has been associated with several neurodegenerative disorders including forms of parkinsonism and Parkinson disease (PD). We evaluated the association of the MAPT region ...
    • Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study 

      Wilk JB; Tobin JE; Suchowersky O; Shill HA; Klein C; Wooten GF; Lew MF; Mark MH; Guttman M; Watts RL; Singer C; Growdon JH; Latourelle JC; Saint-Hilaire MH; DeStefano AL; Prakash R; Williamson S; Berg CJ; Sun M; Goldwurm S; Pezzoli G; Racette BA; Perlmutter JS; Parsian A; Baker KB; Giroux ML; Litvan I; Pramstaller PP; Nicholson G; Burn DJ; Chinnery PF; Vieregge P; Slevin JT; Cambi F; MacDonald ME; Gusella JF; Myers RH; Golbe LI (2006)
      BACKGROUND: Polymorphisms in the glutathione S-transferase pi gene (GSTP1), encoding GSTP1-1, a detoxification enzyme, may increase the risk of Parkinson disease (PD) with exposure to pesticides. Using the GenePD Study ...
    • Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study 

      McNicoll CF; Latourelle JC; MacDonald ME; 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; SaintHilaire MH; Massood T; Huskey KW; DeStefano AL; Gillis T; Mysore J; Goldwurm S; Pezzoli G; 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 (2008)
      The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (HD) repeat. Impaired mitochondrial function has long been implicated in the pathogenesis ...
    • 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 (2008)
      Genetic variants in embryonic lethal, abnormal vision, Drosophila-like 4 (ELAVL4) have been reported to be associated with onset age of Parkinson disease (PD) or risk for PD affection in Caucasian populations. In the current ...