Sequence-Level Analysis of the Major European Huntington Disease Haplotype

Autor: Lee, JM, Kim, KH, Shin, A, Chao, MJ, AbuElneel, K, Gillis, T, Mysore, JS, Kaye, JA, Zahed, H, Kratter, IH, Daub, AC, Finkbeiner, S, Li, H, Roach, JC, Goodman, N, Hood, L, Myers, RH, MacDonald, ME, Gusella, JF

Publikováno v: Lee, JM; Lee, JM; Lee, JM; Kim, KH; Kim, KH; Shin, A; et al.(2015). Sequence-Level Analysis of the Major European Huntington Disease Haplotype. American Journal of Human Genetics. doi: 10.1016/j.ajhg.2015.07.017. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/9nc5v8xr

© 2015 The American Society of Human Genetics. Huntington disease (HD) reflects the dominant consequences of a CAG-repeat expansion in HTT. Analysis of common SNP-based haplotypes has revealed that most European HD subjects have distinguishable HTT

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::e28da2f93de1bc2731155527ce307947
http://www.escholarship.org/uc/item/9nc5v8xr

Population stratification may bias analysis of PGC-1alpha as amodifiewr of age at Huntington disease motor onset

Autor: Ramos EM, Latourelle JC, Lee JH, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME.

Publikováno v: Human genetics 131 (2012): 1833–1840. doi:10.1007/s00439-012-1205-z.
info:cnr-pdr/source/autori:Ramos EM, Latourelle JC, Lee JH, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME./titolo:Population stratification may bias analysis of PGC-1alpha as amodifiewr of age at Huntington disease motor onset/doi:10.1007%2Fs00439-012-1205-z./rivista:Human genetics/anno:2012/pagina_da:1833/pagina_a:1840/intervallo_pagine:1833–1840/volume:131

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::6c3178e1b7b9c898f7325a100f8974ea

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease

Autor: Lee JH, Lee JM, Ramos EM, Gillis T, Mysore JS, Kishikawa S, Hadzi T, Hendricks AE, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Gellera C, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J,Landwehrmeyer GB, Registry Study of the European Huntington's Disease Network, Shoulson I, Huntington Study Group COHORT project, Myers RH, MacDonald ME, Gusella JF.

Publikováno v: Biochemical and biophysical research communications (Online) 424 (2012): 404–408.
info:cnr-pdr/source/autori:Lee JH, Lee JM, Ramos EM, Gillis T, Mysore JS, Kishikawa S, Hadzi T, Hendricks AE, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Gellera C, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J,Landwehrmeyer GB; Registry Study of the European Huntington's Disease Network, Shoulson I; Huntington Study Group COHORT project, Myers RH, MacDonald ME, Gusella JF./titolo:TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease/doi:/rivista:Biochemical and biophysical research communications (Online)/anno:2012/pagina_da:404/pagina_a:408/intervallo_pagine:404–408/volume:424

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::cf39453efdd92ebec8d2ab0121f831ca
https://publications.cnr.it/doc/194892

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CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

Autor: Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A

Publikováno v: Neurology; 3/6/2012, Vol. 78 Issue 10, p690-695, 6p