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Items: 1 to 20 of 66

1.

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
2.

An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice.

Wilburn B, Rudnicki DD, Zhao J, Weitz TM, Cheng Y, Gu X, Greiner E, Park CS, Wang N, Sopher BL, La Spada AR, Osmand A, Margolis RL, Sun YE, Yang XW.

Neuron. 2011 May 12;70(3):427-40. doi: 10.1016/j.neuron.2011.03.021.

3.

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.

4.

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
5.

Huntington's disease--like 2 is associated with CUG repeat-containing RNA foci.

Rudnicki DD, Holmes SE, Lin MW, Thornton CA, Ross CA, Margolis RL.

Ann Neurol. 2007 Mar;61(3):272-82.

PMID:
17387722
6.

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
7.

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
8.

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
9.

A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.

Holmes SE, O'Hearn E, Rosenblatt A, Callahan C, Hwang HS, Ingersoll-Ashworth RG, Fleisher A, Stevanin G, Brice A, Potter NT, Ross CA, Margolis RL.

Nat Genet. 2001 Dec;29(4):377-8. Erratum in: Nat Genet 2002 Jan;30(1):123.

PMID:
11694876
10.

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
11.

A Drosophila model of Huntington disease-like 2 exhibits nuclear toxicity and distinct pathogenic mechanisms from Huntington disease.

Krench M, Cho RW, Littleton JT.

Hum Mol Genet. 2016 Aug 1;25(15):3164-3177. doi: 10.1093/hmg/ddw166. Epub 2016 Jun 10.

PMID:
27288455
12.

Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.

Costa Mdo C, Teixeira-Castro A, Constante M, Magalhães M, Magalhães P, Cerqueira J, Vale J, Passão V, Barbosa C, Robalo C, Coutinho P, Barros J, Santos MM, Sequeiros J, Maciel P.

J Hum Genet. 2006;51(8):645-51. Epub 2006 Jul 21.

13.

Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.

Sułek-Piatkowska A, Krysa W, Zdzienicka E, Szirkowiec W, Hoffman-Zacharska D, Rajkiewicz M, Fidziańska E, Kowalska G, Zaremba J.

Neurol Neurochir Pol. 2008 May-Jun;42(3):203-9.

PMID:
18651325
14.

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.

Stevanin G, Fujigasaki H, Lebre AS, Camuzat A, Jeannequin C, Dode C, Takahashi J, San C, Bellance R, Brice A, Durr A.

Brain. 2003 Jul;126(Pt 7):1599-603. Epub 2003 May 6.

PMID:
12805114
15.

Huntington's disease: genetic heterogeneity in black African patients.

Magazi DS, Krause A, Bonev V, Moagi M, Iqbal Z, Dludla M, van der Meyden CH.

S Afr Med J. 2008 Mar;98(3):200-3.

PMID:
18350222
16.

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
17.

Age-, tissue- and length-dependent bidirectional somatic CAG•CTG repeat instability in an allelic series of R6/2 Huntington disease mice.

Larson E, Fyfe I, Morton AJ, Monckton DG.

Neurobiol Dis. 2015 Apr;76:98-111. doi: 10.1016/j.nbd.2015.01.004. Epub 2015 Feb 3.

PMID:
25662336
18.

Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin.

Paradisi I, Ikonomu V, Arias S.

J Hum Genet. 2013 Jan;58(1):3-6. doi: 10.1038/jhg.2012.111. Epub 2012 Sep 13.

PMID:
22971727
19.

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.

PMID:
18379432
20.

CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.

Stevanin G, Camuzat A, Holmes SE, Julien C, Sahloul R, Dodé C, Hahn-Barma V, Ross CA, Margolis RL, Durr A, Brice A.

Neurology. 2002 Mar 26;58(6):965-7.

PMID:
11914418

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