Melanesians and Polynesians share a unique alpha-thalassemia mutation

Autor: Hill, AV, Bowden, DK, Trent, RJ, Higgs, DR, Oppenheimer, SJ, Thein, SL, Mickleson, KN, Weatherall, DJ, Clegg, JB

Several genetic markers that provide information on population migrations and affinities have been detected by studies of proteins and cellular antigens in blood. Analysis of DNA polymorphisms promises to yield many further population markers, and we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::08b92ec2bcdd3e4be42690d06a383e7a
https://ora.ox.ac.uk/objects/uuid:24e27b1a-15e9-48ab-a41c-5ce186f60322

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

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

Autor: Djousse L, Knowlton B, Hayden M, Almqvist EW, Brinkman R, Ross C, Margolis R, Rosenblatt A, Durr A, Dode C, Morrison PJ, Novelletto A, Frontali M, Trent RJ, McCusker E, Gomez-Tortosa E, Mayo D, Jones R, Zanko A, Nance M, Abramson R, Suchowersky O, Paulsen

Publikováno v: 119 (2003): 279–282.
info:cnr-pdr/source/autori:Djousse L, Knowlton B, Hayden M, Almqvist EW, Brinkman R, Ross C, Margolis R, Rosenblatt A, Durr A, Dode C, Morrison PJ, Novelletto A, Frontali M, Trent RJ, McCusker E, Gomez-Tortosa E, Mayo D, Jones R, Zanko A, Nance M, Abramson R, Suchowersky O, Paulsen/titolo:Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease./doi:/rivista:/anno:2003/pagina_da:279/pagina_a:282/intervallo_pagine:279–282/volume:119

Huntington disease (HD) is a neurodegenerative disorder caused by the abnormal expansion of CAG repeats in the HD gene on chromosome 4p16.3. Past studies have shown that the size of expanded CAG repeat is inversely associated with age at onset (AO) o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::969118b27a029e38993afddb2444934d
http://www.cnr.it/prodotto/i/4584

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