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Items: 1 to 20 of 101

1.

A promising orphan target to treat HD.

Ratna N.

Mov Disord. 2018 Nov;33(11):1674. doi: 10.1002/mds.27512. No abstract available.

PMID:
30485911
2.

Drug discovery and development for Huntington's disease - an orphan indication with high medical need.

Heitz F, La Rosa S, Gonzalez-Couto E, Gaviraghi G, Terstappen GC.

IDrugs. 2008 Sep;11(9):653-60. Review.

PMID:
18763216
3.

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.

Mariani LL, Tesson C, Charles P, Cazeneuve C, Hahn V, Youssov K, Freeman L, Grabli D, Roze E, Noël S, Peuvion JN, Bachoud-Levi AC, Brice A, Stevanin G, Durr A.

JAMA Neurol. 2016 Sep 1;73(9):1105-14. doi: 10.1001/jamaneurol.2016.2215.

PMID:
27400454
4.

Anaesthesia and orphan disease: airway and anaesthetic management in Huntington's disease.

Nguyen PT, Meeks D, Liotiri D.

BMJ Case Rep. 2017 Oct 19;2017. pii: bcr-2017-221354. doi: 10.1136/bcr-2017-221354.

PMID:
29054944
5.

Ascorbate treatment attenuates the Huntington behavioral phenotype in mice.

Rebec GV, Barton SJ, Marseilles AM, Collins K.

Neuroreport. 2003 Jul 1;14(9):1263-5.

PMID:
12824772
6.

Huntington disease and Huntington disease-like in a case series from Brazil.

Castilhos RM, Souza AF, Furtado GV, Gheno TC, Silva AL, Vargas FR, Lima MA, Barsottini O, Pedroso JL, Godeiro C Jr, Salarini D, Pereira ET, Lin K, Toralles MB, Saute JA, Rieder CR, Quintas M, Sequeiros J, Alonso I, Saraiva-Pereira ML, Jardim LB.

Clin Genet. 2014 Oct;86(4):373-7. doi: 10.1111/cge.12283. Epub 2013 Oct 17.

PMID:
24102565
7.

Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.

Krause A, Mitchell C, Essop F, Tager S, Temlett J, Stevanin G, Ross C, Rudnicki D, Margolis R.

Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):573-85. doi: 10.1002/ajmg.b.32332. Epub 2015 Jun 16.

8.

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.

9.

Anaesthesia and orphan disease: sugammadex in a patient with Huntington's disease undergoing thyroid lobectomy.

Khan MH, Banerjee A.

Eur J Anaesthesiol. 2012 Dec;29(12):593-5. doi: 10.1097/EJA.0b013e328356472a. No abstract available.

PMID:
22935957
10.

Huntington's Disease: Relationship Between Phenotype and Genotype.

Sun YM, Zhang YB, Wu ZY.

Mol Neurobiol. 2017 Jan;54(1):342-348. doi: 10.1007/s12035-015-9662-8. Epub 2016 Jan 7. Review.

PMID:
26742514
11.

Juvenile Huntington's disease confirmed by genetic examination in twins.

Levy G, Nobre ME, Cimini VT, Raskin S, Engelhardt E.

Arq Neuropsiquiatr. 1999 Sep;57(3B):867-9.

PMID:
10751926
12.

C9ORF72 hexanucleotide repeat expansions are a frequent cause of Huntington disease phenocopies in the Greek population.

Koutsis G, Karadima G, Kartanou C, Kladi A, Panas M.

Neurobiol Aging. 2015 Jan;36(1):547.e13-6. doi: 10.1016/j.neurobiolaging.2014.08.020. Epub 2014 Aug 27.

PMID:
25248608
13.

Huntington disease phenocopy is a familial prion disease.

Moore RC, Xiang F, Monaghan J, Han D, Zhang Z, Edström L, Anvret M, Prusiner SB.

Am J Hum Genet. 2001 Dec;69(6):1385-8. Epub 2001 Oct 9.

14.

Yugoslav HD phenocopies analyzed on the presence of mutations in PrP, ferritin, and Jp-3 genes.

Keckarević M, Savić D, Svetel M, Kostić V, Vukosavić S, Romac S.

Int J Neurosci. 2005 Feb;115(2):299-301.

PMID:
15764008
15.

Reversal of Phenotypic Abnormalities by CRISPR/Cas9-Mediated Gene Correction in Huntington Disease Patient-Derived Induced Pluripotent Stem Cells.

Xu X, Tay Y, Sim B, Yoon SI, Huang Y, Ooi J, Utami KH, Ziaei A, Ng B, Radulescu C, Low D, Ng AYJ, Loh M, Venkatesh B, Ginhoux F, Augustine GJ, Pouladi MA.

Stem Cell Reports. 2017 Mar 14;8(3):619-633. doi: 10.1016/j.stemcr.2017.01.022. Epub 2017 Feb 23.

16.

A large number of protein expression changes occur early in life and precede phenotype onset in a mouse model for huntington disease.

Zabel C, Mao L, Woodman B, Rohe M, Wacker MA, Kläre Y, Koppelstätter A, Nebrich G, Klein O, Grams S, Strand A, Luthi-Carter R, Hartl D, Klose J, Bates GP.

Mol Cell Proteomics. 2009 Apr;8(4):720-34. doi: 10.1074/mcp.M800277-MCP200. Epub 2008 Nov 30.

17.

Rapid eye movement sleep disturbances in Huntington disease.

Arnulf I, Nielsen J, Lohmann E, Schiefer J, Wild E, Jennum P, Konofal E, Walker M, Oudiette D, Tabrizi S, Durr A.

Arch Neurol. 2008 Apr;65(4):482-8. doi: 10.1001/archneur.65.4.482. Erratum in: Arch Neurol. 2008 Nov;65(11):1478.. Schieffer, Johannes [corrected to Schiefer,Johannes].

PMID:
18413470
18.

Dystonia-predominant adult-onset Huntington disease: association between motor phenotype and age of onset in adults.

Louis ED, Anderson KE, Moskowitz C, Thorne DZ, Marder K.

Arch Neurol. 2000 Sep;57(9):1326-30.

PMID:
10987900
19.

Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript.

Goldberg YP, Kalchman MA, Metzler M, Nasir J, Zeisler J, Graham R, Koide HB, O'Kusky J, Sharp AH, Ross CA, Jirik F, Hayden MR.

Hum Mol Genet. 1996 Feb;5(2):177-85.

PMID:
8824873
20.

Cognitive and behavioral changes in Huntington disease before diagnosis.

Paulsen JS, Miller AC, Hayes T, Shaw E.

Handb Clin Neurol. 2017;144:69-91. doi: 10.1016/B978-0-12-801893-4.00006-7. Review.

PMID:
28947127

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