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Items: 17

1.

Epigenetic regulation of Atrophin1 by lysine-specific demethylase 1 is required for cortical progenitor maintenance.

Zhang F, Xu D, Yuan L, Sun Y, Xu Z.

Nat Commun. 2014 Dec 18;5:5815. doi: 10.1038/ncomms6815.

2.

The role for alterations in neuronal activity in the pathogenesis of polyglutamine repeat disorders.

Chopra R, Shakkottai VG.

Neurotherapeutics. 2014 Oct;11(4):751-63. doi: 10.1007/s13311-014-0289-7. Review.

3.
4.

Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.

Whaley NR, Fujioka S, Wszolek ZK.

Orphanet J Rare Dis. 2011 May 28;6:33. doi: 10.1186/1750-1172-6-33. Review.

5.

Pathological accumulation of atrophin-1 in dentatorubralpallidoluysian atrophy.

Suzuki Y, Yazawa I.

Int J Clin Exp Pathol. 2011 Apr;4(4):378-84. Epub 2011 Apr 25. Review.

6.

Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice.

Sato T, Miura M, Yamada M, Yoshida T, Wood JD, Yazawa I, Masuda M, Suzuki T, Shin RM, Yau HJ, Liu FC, Shimohata T, Onodera O, Ross CA, Katsuki M, Takahashi H, Kano M, Aosaki T, Tsuji S.

Hum Mol Genet. 2009 Feb 15;18(4):723-36. doi: 10.1093/hmg/ddn403. Epub 2008 Nov 27.

7.

Molecular pathology of dentatorubral-pallidoluysian atrophy.

Kanazawa I.

Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29;354(1386):1069-74. Review.

8.

A sporadic case of dentatorubral pallidoluysian atrophy (DRPLA) with CAG repeat expansion but no clinical abnormalities in the father.

Shimizu N, Yamami T, Nakayama M, Ikeuchi T, Koide R, Tsuji S.

J Neurol Neurosurg Psychiatry. 1996 Jul;61(1):113-4. No abstract available.

9.

Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability.

Takano H, Onodera O, Takahashi H, Igarashi S, Yamada M, Oyake M, Ikeuchi T, Koide R, Tanaka H, Iwabuchi K, Tsuji S.

Am J Hum Genet. 1996 Jun;58(6):1212-22.

10.

Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis.

Ikeuchi T, Igarashi S, Takiyama Y, Onodera O, Oyake M, Takano H, Koide R, Tanaka H, Tsuji S.

Am J Hum Genet. 1996 Apr;58(4):730-3.

11.

Delirium associated with Joseph disease.

Fukutani Y, Katsukawa K, Matsubara R, Kobayashi K, Nakamura I, Yamaguchi N.

J Neurol Neurosurg Psychiatry. 1993 Nov;56(11):1207-12.

12.

Huntington disease without CAG expansion: phenocopies or errors in assignment?

Andrew SE, Goldberg YP, Kremer B, Squitieri F, Theilmann J, Zeisler J, Telenius H, Adam S, Almquist E, Anvret M, et al.

Am J Hum Genet. 1994 May;54(5):852-63.

13.

Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families.

Sasaki H, Wakisaka A, Takada A, Yoshiki T, Ihara T, Suzuki Y, Hamada T, Iwabuchi K, Onari K, Tada J, et al.

Am J Hum Genet. 1995 Jan;56(1):231-42.

14.

Normal CAG repeat variation at the DRPLA locus in world populations.

Deka R, Miki T, Yin SJ, McGarvey ST, Shriver MD, Bunker CH, Raskin S, Hundrieser J, Ferrell RE, Chakraborty R.

Am J Hum Genet. 1995 Aug;57(2):508-11. No abstract available.

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16.

Dentato-rubro-pallido-luysian atrophy: a clinico-pathological study.

Iizuka R, Hirayama K, Maehara KA.

J Neurol Neurosurg Psychiatry. 1984 Dec;47(12):1288-98.

17.

Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus.

Kondo I, Ohta H, Yazaki M, Ikeda JE, Gusella JF, Kanazawa I.

J Med Genet. 1990 Feb;27(2):105-8.

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