Now showing items 1-3 of 3

    • 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 ...
    • 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 ...