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Items: 1 to 20 of 93

1.

CAG-repeat length and the age of onset in Huntington disease (HD): a review and validation study of statistical approaches.

Langbehn DR, Hayden MR, Paulsen JS; and the PREDICT-HD Investigators of the Huntington Study Group.

Am J Med Genet B Neuropsychiatr Genet. 2010 Mar 5;153B(2):397-408. doi: 10.1002/ajmg.b.30992. Review.

2.

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

Djoussé 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, Gómez-Tortosa E, Mayo D, Jones R, Zanko A, Nance M, Abramson R, Suchowersky O, Paulsen J, Harrison M, Yang Q, Cupples LA, Gusella JF, MacDonald ME, Myers RH.

Am J Med Genet A. 2003 Jun 15;119A(3):279-82.

PMID:
12784292
3.

Motor onset and diagnosis in Huntington disease using the diagnostic confidence level.

Liu D, Long JD, Zhang Y, Raymond LA, Marder K, Rosser A, McCusker EA, Mills JA, Paulsen JS; PREDICT-HD Investigators and Coordinators of the Huntington Study Group.

J Neurol. 2015 Dec;262(12):2691-8. doi: 10.1007/s00415-015-7900-7. Epub 2015 Sep 26.

4.

Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length.

Kehoe P, Krawczak M, Harper PS, Owen MJ, Jones AL.

J Med Genet. 1999 Feb;36(2):108-11.

5.

The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset.

Andresen JM, Gayán J, Djoussé L, Roberts S, Brocklebank D, Cherny SS; US-Venezuela Collaborative Research Group; HD MAPS Collaborative Research Group, Cardon LR, Gusella JF, MacDonald ME, Myers RH, Housman DE, Wexler NS.

Ann Hum Genet. 2007 May;71(Pt 3):295-301. Epub 2006 Dec 19.

6.

Prediction of manifest Huntington's disease with clinical and imaging measures: a prospective observational study.

Paulsen JS, Long JD, Ross CA, Harrington DL, Erwin CJ, Williams JK, Westervelt HJ, Johnson HJ, Aylward EH, Zhang Y, Bockholt HJ, Barker RA; PREDICT-HD Investigators and Coordinators of the Huntington Study Group.

Lancet Neurol. 2014 Dec;13(12):1193-201. doi: 10.1016/S1474-4422(14)70238-8. Epub 2014 Nov 3.

7.

The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size.

Brinkman RR, Mezei MM, Theilmann J, Almqvist E, Hayden MR.

Am J Hum Genet. 1997 May;60(5):1202-10.

8.

Nonparametric modeling and analysis of association between Huntington's disease onset and CAG repeats.

Ma Y, Wang Y.

Stat Med. 2014 Apr 15;33(8):1369-82. doi: 10.1002/sim.5971. Epub 2013 Sep 12.

9.

Exploring the correlates of intermediate CAG repeats in Huntington disease.

Ha AD, Jankovic J.

Postgrad Med. 2011 Sep;123(5):116-21. doi: 10.3810/pgm.2011.09.2466. Review.

PMID:
21904093
10.

Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.

Rubinsztein DC, Leggo J, Coles R, Almqvist E, Biancalana V, Cassiman JJ, Chotai K, Connarty M, Crauford D, Curtis A, Curtis D, Davidson MJ, Differ AM, Dode C, Dodge A, Frontali M, Ranen NG, Stine OC, Sherr M, Abbott MH, Franz ML, Graham CA, Harper PS, Hedreen JC, Hayden MR, et al.

Am J Hum Genet. 1996 Jul;59(1):16-22.

11.

Weight loss in Huntington disease increases with higher CAG repeat number.

Aziz NA, van der Burg JM, Landwehrmeyer GB, Brundin P, Stijnen T; EHDI Study Group, Roos RA.

Neurology. 2008 Nov 4;71(19):1506-13. doi: 10.1212/01.wnl.0000334276.09729.0e.

PMID:
18981372
12.

A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length.

Langbehn DR, Brinkman RR, Falush D, Paulsen JS, Hayden MR; International Huntington's Disease Collaborative Group.

Clin Genet. 2004 Apr;65(4):267-77. Erratum in: Clin Genet. 2004 Jul;66(1):81.

PMID:
15025718
13.

Neurocognitive signs in prodromal Huntington disease.

Stout JC, Paulsen JS, Queller S, Solomon AC, Whitlock KB, Campbell JC, Carlozzi N, Duff K, Beglinger LJ, Langbehn DR, Johnson SA, Biglan KM, Aylward EH.

Neuropsychology. 2011 Jan;25(1):1-14. doi: 10.1037/a0020937.

14.

Expansion of a (CAG)n repeat region in a sporadic case of HD.

Bozza A, Malagù S, Calzolari E, Novelletto A, Pavoni M, del Senno L.

Acta Neurol Scand. 1995 Aug;92(2):132-4.

PMID:
7484060
15.

Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy.

Lee JM, Galkina EI, Levantovsky RM, Fossale E, Anne Anderson M, Gillis T, Srinidhi Mysore J, Coser KR, Shioda T, Zhang B, Furia MD, Derry J, Kohane IS, Seong IS, Wheeler VC, Gusella JF, MacDonald ME.

Hum Mol Genet. 2013 Aug 15;22(16):3227-38. doi: 10.1093/hmg/ddt176. Epub 2013 Apr 16.

16.

Predictive testing for Huntington disease: interpretation and significance of intermediate alleles.

Semaka A, Creighton S, Warby S, Hayden MR.

Clin Genet. 2006 Oct;70(4):283-94. Review. Erratum in: Clin Genet. 2007 Jan;71(1):99.

PMID:
16965319
17.

The number of CAG repeats within the normal allele does not influence the age of onset in Huntington's disease.

Klempíř J, Zidovská J, Stochl J, Ing VK, Uhrová T, Roth J.

Mov Disord. 2011 Jan;26(1):125-9. doi: 10.1002/mds.23436. Epub 2010 Nov 10.

PMID:
21322024
18.

CAG repeat size and clinical presentation in Huntington's disease.

Ashizawa T, Wong LJ, Richards CS, Caskey CT, Jankovic J.

Neurology. 1994 Jun;44(6):1137-43.

PMID:
8208412
19.

Toward understanding the molecular pathology of Huntington's disease.

Wellington CL, Brinkman RR, O'Kusky JR, Hayden MR.

Brain Pathol. 1997 Jul;7(3):979-1002. Review.

PMID:
9217979
20.

[Molecular analysis of the IT15 gene in 79 Spanish families with Huntington's disease: diagnostic confirmation and presymptomatic diagnosis].

Sánchez A, Milà M, Castellví-Bel S, Calopa M, Genís D, Jiménez D, Estivill X.

Med Clin (Barc). 1997 May 10;108(18):687-90. Spanish.

PMID:
9324583

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