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Results: 16

1.

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients.

Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D; REGISTRY Investigators of the European Huntington’s Disease Network, Nguyen HP.

PLoS One. 2013 Jul 22;8(7):e68951. doi: 10.1371/journal.pone.0068951. Print 2013.

2.

Suicidal ideation in a European Huntington's disease population.

Hubers AA, van Duijn E, Roos RA, Craufurd D, Rickards H, Bernhard Landwehrmeyer G, van der Mast RC, Giltay EJ; REGISTRY investigators of the European Huntington's Disease Network.

J Affect Disord. 2013 Oct;151(1):248-58. doi: 10.1016/j.jad.2013.06.001. Epub 2013 Jul 20.

3.

β-Defensin genomic copy number does not influence the age of onset in Huntington's Disease.

Vittori A, Orth M, Roos RA, Outeiro TF, Giorgini F, Hollox EJ; Registry investigators of the European Huntington's Disease Network.

J Huntingtons Dis. 2013;2(1):107-24. doi: 10.3233/JHD-130002.

PMID:
25057107
4.

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.

Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8.

5.

NMDA receptor gene variations as modifiers in Huntington disease: a replication study.

Saft C, Epplen JT, Wieczorek S, Landwehrmeyer GB, Roos RA, de Yebenes JG, Dose M, Tabrizi SJ, Craufurd D; REGISTRY Investigators of the European Huntington's Disease Network, Arning L.

PLoS Curr. 2011 Oct 4;3:RRN1247. doi: 10.1371/currents.RRN1247.

6.

Discrepancies in reporting the CAG repeat lengths for Huntington's disease.

Quarrell OW, Handley O, O'Donovan K, Dumoulin C, Ramos-Arroyo M, Biunno I, Bauer P, Kline M, Landwehrmeyer GB; European Huntington’s Disease Network.

Eur J Hum Genet. 2012 Jan;20(1):20-6. doi: 10.1038/ejhg.2011.136. Epub 2011 Aug 3.

7.

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY.

Orth M; European Huntington's Disease Network, Handley OJ, Schwenke C, Dunnett S, Wild EJ, Tabrizi SJ, Landwehrmeyer GB.

J Neurol Neurosurg Psychiatry. 2011 Dec;82(12):1409-12. doi: 10.1136/jnnp.2010.209668. Epub 2010 Nov 19. No abstract available.

PMID:
21097549
8.

Observing Huntington's Disease: the European Huntington's Disease Network's REGISTRY.

Orth M, Handley OJ, Schwenke C, Dunnett SB, Craufurd D, Ho AK, Wild E, Tabrizi SJ, Landwehrmeyer GB; Investigators of the European Huntington's Disease Network.

Version 2. PLoS Curr. 2010 Sep 28 [revised 2011 Apr 13];2:RRN1184.

9.

Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease.

Aziz NA, Jurgens CK, Landwehrmeyer GB; EHDN Registry Study Group, van Roon-Mom WM, van Ommen GJ, Stijnen T, Roos RA.

Neurology. 2009 Oct 20;73(16):1280-5. doi: 10.1212/WNL.0b013e3181bd1121. Epub 2009 Sep 23. Erratum in: Neurology. 2011 Jan 11;76(2):202. Ciarmielo, Andrea [corrected to Ciarmiello, Andrea]. Neurology. 2009 Nov 10;73(19):1608.

PMID:
19776381
10.

Effects of an intensive rehabilitation programme on patients with Huntington's disease: a pilot study.

Zinzi P, Salmaso D, De Grandis R, Graziani G, Maceroni S, Bentivoglio A, Zappata P, Frontali M, Jacopini G.

Clin Rehabil. 2007 Jul;21(7):603-13.

PMID:
17702702
11.

Prenatal testing for Huntington's disease: a European collaborative study.

Simpson SA, Zoeteweij MW, Nys K, Harper P, Dürr A, Jacopini G, Yapijakis C, Evers-Kiebooms G.

Eur J Hum Genet. 2002 Nov;10(11):689-93.

12.

Predictive DNA-testing for Huntington's disease and reproductive decision making: a European collaborative study.

Evers-Kiebooms G, Nys K, Harper P, Zoeteweij M, Dürr A, Jacopini G, Yapijakis C, Simpson S.

Eur J Hum Genet. 2002 Mar;10(3):167-76.

13.

The experience of disease: psychosocial aspects of movement disorders.

Jacopini G.

J Neurosci Nurs. 2000 Oct;32(5):263-5.

PMID:
11089198
14.

Predictive testing for Huntington's disease: ten years' experience in two Italian centres.

Mandich P, Jacopini G, Di Maria E, Sabbadini G, Abbruzzese G, Chimirri F, Bellone E, Novelletto A, Ajmar F, Frontali M.

Ital J Neurol Sci. 1998 Apr;19(2):68-74. Erratum in: Ital J Neurol Sci 1998 Jun;19(3):149.

PMID:
10935839
15.

Reproductive choices in couples at risk for genetic disease: a qualitative and quantitative analysis.

D'Amico R, Jacopini G, Vivona G, Frontali M.

Birth Defects Orig Artic Ser. 1992;28(1):41-6. No abstract available.

PMID:
1340234
16.

Attitudes of persons at risk and their partners toward predictive testing.

Jacopini GA, D'Amico R, Frontali M, Vivona G.

Birth Defects Orig Artic Ser. 1992;28(1):113-7. No abstract available.

PMID:
1340220
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