Now showing items 1-5 of 5

    • A Genome-Wide Association Study of Pulmonary Function Measures in the Framingham Heart Study 

      Walter, Robert E.; Nagle, Michael W.; Brandler, Brian J.; Borecki, Ingrid B.; O'Connor, George T.; McCarthy, Mark I.; Wilk, Jemma B; Chen, Ting-Hsu; Gottlieb, Daniel J; Myers, Richard Hepworth; Silverman, Edwin Kepner; Weiss, Scott Tillman (Public Library of Science, 2009)
      The ratio of forced expiratory volume in one second to forced vital capacity (FEV1/FVC) is a measure used to diagnose airflow obstruction and is highly heritable. We performed a genome-wide association study in 7,691 ...
    • Genome-wide Significance for a Modifier of Age at Neurological Onset in Huntington's Disease at 6q23-24: The HD MAPS Study 

      Li, Jian-Liang; Hayden, Michael R; Warby, Simon C; Durr, Alexandra; Morrison, Patrick J; Nance, Martha; Ross, Christopher A; Margolis, Russell L; Rosenblatt, Adam; Squitieri, Ferdinando; Frati, Luigi; Gómez-Tortosa, Estrella; García, Carmen Ayuso; Suchowersky, Oksana; Klimek, Mary Lou; Trent, Ronald JA; McCusker, Elizabeth; Novelletto, Andrea; Frontali, Marina; Paulsen, Jane S; Jones, Randi; Ashizawa, Tetsuo; Lazzarini, Alice; Prakash, Ranjana; Djoussé, Luc; Mysore, Jayalakshmi Srinidhi; Gillis, Tammy; Hakky, Michael; Cupples, L Adrienne; Saint-Hilaire, Marie H; Penney, John B; Harrison, Madaline B; Perlman, Susan L; Zanko, Andrea; Abramson, Ruth K; Lechich, Anthony J; Duckett, Ayana; Marder, Karen; Conneally, P Michael; Wheeler, Vanessa Chantal; Xu, Gang; Cha, Jang-Ho J.; Hersch, Steven M.; Gusella, James Francis; MacDonald, Marcy Elizabeth; Myers, Richard Hepworth (BioMed Central, 2006)
      Background: Age at onset of Huntington's disease (HD) is correlated with the size of the abnormal CAG repeat expansion in the HD gene; however, several studies have indicated that other genetic factors also contribute to ...
    • Genomewide Association Study for Onset Age in Parkinson Disease 

      Latourelle, Jeanne C; Pankratz, Nathan; Dumitriu, Alexandra; Wilk, Jemma B; Goldwurm, Stefano; Pezzoli, Gianni; Mariani, Claudio B; DeStefano, Anita L; Halter, Cheryl; Nichols, William C; Foroud, Tatiana; Gusella, James Francis; Myers, Richard Hepworth (BioMed Central, 2009)
      Background: Age at onset in Parkinson disease (PD) is a highly heritable quantitative trait for which a significant genetic influence is supported by multiple segregation analyses. Because genes associated with onset age ...
    • The Gly2019Ser Mutation in LRRK2 is not Fully Penetrant in Familial Parkinson's Disease: The GenePD Study 

      Latourelle, Jeanne C; Lew, Mark F; Suchowersky, Oksana; Klein, Christine; Golbe, Lawrence I; Mark, Margery H; Wooten, G Frederick; Watts, Ray L; Guttman, Mark; Racette, Brad A; Perlmutter, Joel S; Ahmed, Anwar; Shill, Holly A; Singer, Carlos; Goldwurm, Stefano; Pezzoli, Gianni; Zini, Michela; Saint-Hilaire, Marie H; Hendricks, Audrey E; Williamson, Sally; Nagle, Michael W; Wilk, Jemma B; Massood, Tiffany; Huskey, Karen W; Laramie, Jason M; DeStefano, Anita L; Baker, Kenneth B; Itin, Ilia; Litvan, Irene; Nicholson, Garth; Corbett, Alastair; Nance, Martha; Drasby, Edward; Isaacson, Stuart; Burn, David J; Chinnery, Patrick F; Pramstaller, Peter P; Al-hinti, Jomana; Moller, Anette T; Ostergaard, Karen; Roxburgh, Richard; Snow, Barry; Slevin, John T; Cambi, Franca; Growdon, John Herbert; Gusella, James Francis; Sun, Mei; Sherman, Scott J; Myers, Richard Hepworth (BioMed Central, 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 ...
    • Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset 

      Ramos, Eliana Marisa; Latourelle, Jeanne C.; Lee, Ji-Hyun; Gillis, Tammy; Mysore, Jayalakshmi S.; Squitieri, Ferdinando; Di Pardo, Alba; Di Donato, Stefano; Hayden, Michael R.; Morrison, Patrick J.; Nance, Martha; Ross, Christopher A.; Margolis, Russell L.; Gomez-Tortosa, Estrella; Ayuso, Carmen; Suchowersky, Oksana; Trent, Ronald J.; McCusker, Elizabeth; Novelletto, Andrea; Frontali, Marina; Jones, Randi; Ashizawa, Tetsuo; Frank, Samuel; Saint-Hilaire, Marie-Helene; Hersch, Steven M.; Rosas, Herminia Diana; Lucente, Diane; Harrison, Madaline B.; Zanko, Andrea; Marder, Karen; Gusella, James Francis; Lee, Jong-Min; Alonso, Isabel; Sequeiros, Jorge; Myers, Richard Hepworth; MacDonald, Marcy Elizabeth (Springer-Verlag, 2012)
      Huntington’s disease (HD) is an inherited neurodegenerative disorder characterized by motor, cognitive and behavioral disturbances, caused by the expansion of a CAG trinucleotide repeat in the HD gene. The CAG allele size ...