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HDQLIFE: development and assessment of health-related quality of life in Huntington disease (HD).
Carlozzi NE, Schilling SG, Lai JS, Paulsen JS, Hahn EA, Perlmutter JS, Ross CA, Downing NR, Kratz AL, McCormack MK, Nance MA, Quaid KA, Stout JC, Gershon RC, Ready RE, Miner JA, Barton SK, Perlman SL, Rao SM, Frank S, Shoulson I, Marin H, Geschwind MD, Dayalu P, Goodnight SM, Cella D. Carlozzi NE, et al. Among authors: frank s. Qual Life Res. 2016 Oct;25(10):2441-2455. doi: 10.1007/s11136-016-1386-3. Epub 2016 Aug 13. Qual Life Res. 2016. PMID: 27522213 Free PMC article.
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.
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, 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, Paulsen JS; PREDICT-HD study of the Huntington Study Group (HSG); Landwehrmeyer GB; REGISTRY study of the European Huntington's Disease Network; Myers RH; HD-MAPS Study Group; MacDonald ME, Gusella JF; COHORT study of the HSG. Lee JM, et al. Among authors: frank s. Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323755 Free PMC article.
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
Lee JM, Gillis T, Mysore JS, Ramos EM, Myers RH, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Griguoli A, Di Donato S, 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, MacDonald ME, Gusella JF. Lee JM, et al. Among authors: frank s. Am J Hum Genet. 2012 Mar 9;90(3):434-44. doi: 10.1016/j.ajhg.2012.01.005. Epub 2012 Mar 1. Am J Hum Genet. 2012. PMID: 22387017 Free PMC article.
TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.
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. Lee JH, et al. Among authors: frank s. Biochem Biophys Res Commun. 2012 Aug 3;424(3):404-8. doi: 10.1016/j.bbrc.2012.06.120. Epub 2012 Jul 3. Biochem Biophys Res Commun. 2012. PMID: 22771793 Free PMC article.
Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset.
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. Ramos EM, et al. Among authors: frank s. Hum Genet. 2012 Dec;131(12):1833-40. doi: 10.1007/s00439-012-1205-z. Epub 2012 Jul 25. Hum Genet. 2012. PMID: 22825315 Free PMC article.
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.
Ramos EM, Latourelle JC, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Gellera C, 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, Abramson RK, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME. Ramos EM, et al. Among authors: frank s. Neurogenetics. 2013 Nov;14(3-4):173-9. doi: 10.1007/s10048-013-0364-y. Epub 2013 May 4. Neurogenetics. 2013. PMID: 23644918 Free PMC article.
New measures to capture end of life concerns in Huntington disease: Meaning and Purpose and Concern with Death and Dying from HDQLIFE (a patient-reported outcomes measurement system).
Carlozzi NE, Downing NR, McCormack MK, Schilling SG, Perlmutter JS, Hahn EA, Lai JS, Frank S, Quaid KA, Paulsen JS, Cella D, Goodnight SM, Miner JA, Nance MA. Carlozzi NE, et al. Among authors: frank s. Qual Life Res. 2016 Oct;25(10):2403-2415. doi: 10.1007/s11136-016-1354-y. Epub 2016 Jul 8. Qual Life Res. 2016. PMID: 27393121 Free PMC article.
Patient-reported outcomes in Huntington's disease: Quality of life in neurological disorders (Neuro-QoL) and Huntington's disease health-related quality of life (HDQLIFE) physical function measures.
Carlozzi NE, Ready RE, Frank S, Cella D, Hahn EA, Goodnight SM, Schilling SG, Boileau NR, Dayalu P. Carlozzi NE, et al. Among authors: frank s. Mov Disord. 2017 Jul;32(7):1096-1102. doi: 10.1002/mds.27046. Epub 2017 May 27. Mov Disord. 2017. PMID: 28556412 Free PMC article.
2,333 results