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Items: 1 to 20 of 57

1.

A comparison of huntington disease and huntington disease-like 2 neuropathology.

Rudnicki DD, Pletnikova O, Vonsattel JP, Ross CA, Margolis RL.

J Neuropathol Exp Neurol. 2008 Apr;67(4):366-74. doi: 10.1097/NEN.0b013e31816b4aee.

2.

A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion.

Margolis RL, O'Hearn E, Rosenblatt A, Willour V, Holmes SE, Franz ML, Callahan C, Hwang HS, Troncoso JC, Ross CA.

Ann Neurol. 2001 Dec;50(6):373-80.

PMID:
11761463
3.

A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion.

Margolis RL, O'Hearn E, Rosenblatt A, Willour V, Holmes SE, Franz ML, Callahan C, Hwang HS, Troncoso JC, Ross CA.

Ann Neurol. 2001 Sep;50(3):373-80. Corrected and republished in: Ann Neurol. 2001 Dec;50(6):373-80.

PMID:
11558794
4.

Huntington's Disease-like 2 (HDL2) in North America and Japan.

Margolis RL, Holmes SE, Rosenblatt A, Gourley L, O'Hearn E, Ross CA, Seltzer WK, Walker RH, Ashizawa T, Rasmussen A, Hayden M, Almqvist EW, Harris J, Fahn S, MacDonald ME, Mysore J, Shimohata T, Tsuji S, Potter N, Nakaso K, Adachi Y, Nakashima K, Bird T, Krause A, Greenstein P.

Ann Neurol. 2004 Nov;56(5):670-4. Erratum in: Ann Neurol. 2004 Dec;56(6):911.

PMID:
15468075
5.

Huntington's disease like-2: review and update.

Margolis RL, Rudnicki DD, Holmes SE.

Acta Neurol Taiwan. 2005 Mar;14(1):1-8. Review.

PMID:
15835282
6.

A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features.

Bardien S, Abrahams F, Soodyall H, van der Merwe L, Greenberg J, Brink T, Carr J.

Mov Disord. 2007 Oct 31;22(14):2083-9.

PMID:
17708569
7.
8.

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.

PMID:
26079385
9.

Huntington disease-like 2: the first patient with apparent European ancestry.

Santos C, Wanderley H, Vedolin L, Pena SD, Jardim L, Sequeiros J.

Clin Genet. 2008 May;73(5):480-5. doi: 10.1111/j.1399-0004.2008.00981.x. Epub 2008 Mar 12.

PMID:
18341606
10.

TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease.

Reid SJ, van Roon-Mom WM, Wood PC, Rees MI, Owen MJ, Faull RL, Dragunow M, Snell RG.

Brain Res Mol Brain Res. 2004 Jun 18;125(1-2):120-8.

PMID:
15193429
11.

Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesis.

Seixas AI, Holmes SE, Takeshima H, Pavlovich A, Sachs N, Pruitt JL, Silveira I, Ross CA, Margolis RL, Rudnicki DD.

Ann Neurol. 2012 Feb;71(2):245-57. doi: 10.1002/ana.22598.

PMID:
22367996
12.

Huntington's disease-like 2 in Brazil--report of 4 patients.

Rodrigues GG, Walker RH, Brice A, Cazeneuve C, Russaouen O, Teive HA, Munhoz RP, Becker N, Raskin S, Werneck LC, Junior WM, Tumas V.

Mov Disord. 2008 Nov 15;23(15):2244-7. doi: 10.1002/mds.22223.

PMID:
18816802
13.

Progressive abnormalities in skeletal muscle and neuromuscular junctions of transgenic mice expressing the Huntington's disease mutation.

Ribchester RR, Thomson D, Wood NI, Hinks T, Gillingwater TH, Wishart TM, Court FA, Morton AJ.

Eur J Neurosci. 2004 Dec;20(11):3092-114.

PMID:
15579164
14.

rAAV-mediated shRNA ameliorated neuropathology in Huntington disease model mouse.

Machida Y, Okada T, Kurosawa M, Oyama F, Ozawa K, Nukina N.

Biochem Biophys Res Commun. 2006 Apr 28;343(1):190-7. Epub 2006 Mar 3.

PMID:
16530728
15.

Early motor dysfunction and striosomal distribution of huntingtin microaggregates in Huntington's disease knock-in mice.

Menalled LB, Sison JD, Wu Y, Olivieri M, Li XJ, Li H, Zeitlin S, Chesselet MF.

J Neurosci. 2002 Sep 15;22(18):8266-76.

16.

Huntington disease in a 9-year-old boy: clinical course and neuropathologic examination.

Wojaczyńska-Stanek K, Adamek D, Marszał E, Hoffman-Zacharska D.

J Child Neurol. 2006 Dec;21(12):1068-73.

PMID:
17156701
17.

Expanded CAG repeats in exon 1 of the Huntington's disease gene stimulate dopamine-mediated striatal neuron autophagy and degeneration.

Petersén A, Larsen KE, Behr GG, Romero N, Przedborski S, Brundin P, Sulzer D.

Hum Mol Genet. 2001 Jun 1;10(12):1243-54.

18.

Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains.

Persichetti F, Srinidhi J, Kanaley L, Ge P, Myers RH, D'Arrigo K, Barnes GT, MacDonald ME, Vonsattel JP, Gusella JF, et al.

Neurobiol Dis. 1994 Dec;1(3):159-66.

PMID:
9173995
19.

Evidence for apoptotic cell death in Huntington disease and excitotoxic animal models.

Portera-Cailliau C, Hedreen JC, Price DL, Koliatsos VE.

J Neurosci. 1995 May;15(5 Pt 2):3775-87.

20.

Huntington's disease like-2 neuropathology.

Greenstein PE, Vonsattel JP, Margolis RL, Joseph JT.

Mov Disord. 2007 Jul 30;22(10):1416-23.

PMID:
17516481
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