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Items: 1 to 20 of 254

1.

Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice.

Libby RT, Monckton DG, Fu YH, Martinez RA, McAbney JP, Lau R, Einum DD, Nichol K, Ware CB, Ptacek LJ, Pearson CE, La Spada AR.

Hum Mol Genet. 2003 Jan 1;12(1):41-50.

PMID:
12490531
2.

A SCA7 CAG/CTG repeat expansion is stable in Drosophila melanogaster despite modulation of genomic context and gene dosage.

Jackson SM, Whitworth AJ, Greene JC, Libby RT, Baccam SL, Pallanck LJ, La Spada AR.

Gene. 2005 Feb 28;347(1):35-41.

PMID:
15715978
3.

Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability.

La Spada AR, Peterson KR, Meadows SA, McClain ME, Jeng G, Chmelar RS, Haugen HA, Chen K, Singer MJ, Moore D, Trask BJ, Fischbeck KH, Clegg CH, McKnight GS.

Hum Mol Genet. 1998 Jun;7(6):959-67.

PMID:
9580659
4.

SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat.

Burright EN, Clark HB, Servadio A, Matilla T, Feddersen RM, Yunis WS, Duvick LA, Zoghbi HY, Orr HT.

Cell. 1995 Sep 22;82(6):937-48.

5.

Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.

Seznec H, Lia-Baldini AS, Duros C, Fouquet C, Lacroix C, Hofmann-Radvanyi H, Junien C, Gourdon G.

Hum Mol Genet. 2000 May 1;9(8):1185-94.

PMID:
10767343
6.

An expanded CAG repeat sequence in spinocerebellar ataxia type 7.

Lindblad K, Savontaus ML, Stevanin G, Holmberg M, Digre K, Zander C, Ehrsson H, David G, Benomar A, Nikoskelainen E, Trottier Y, Holmgren G, Ptacek LJ, Anttinen A, Brice A, Schalling M.

Genome Res. 1996 Oct;6(10):965-71.

7.

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.

David G, Abbas N, Stevanin G, Dürr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel JL, Brice A.

Nat Genet. 1997 Sep;17(1):65-70.

PMID:
9288099
8.

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

David G, Dürr A, Stevanin G, Cancel G, Abbas N, Benomar A, Belal S, Lebre AS, Abada-Bendib M, Grid D, Holmberg M, Yahyaoui M, Hentati F, Chkili T, Agid Y, Brice A.

Hum Mol Genet. 1998 Feb;7(2):165-70.

PMID:
9425222
9.

Identification of the spinocerebellar ataxia type 7 mutation in Taiwan: application of PCR-based Southern blot.

Hsieh M, Lin SJ, Chen JF, Lin HM, Hsiao KM, Li SY, Li C, Tsai CJ.

J Neurol. 2000 Aug;247(8):623-9.

PMID:
11041330
10.

Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice.

Gourdon G, Radvanyi F, Lia AS, Duros C, Blanche M, Abitbol M, Junien C, Hofmann-Radvanyi H.

Nat Genet. 1997 Feb;15(2):190-2.

PMID:
9020847
11.

Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.

Del-Favero J, Krols L, Michalik A, Theuns J, Löfgren A, Goossens D, Wehnert A, Van den Bossche D, Van Zand K, Backhovens H, van Regenmorter N, Martin JJ, Van Broeckhoven C.

Hum Mol Genet. 1998 Feb;7(2):177-86.

PMID:
9425224
12.

Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.

Gouw LG, Castañeda MA, McKenna CK, Digre KB, Pulst SM, Perlman S, Lee MS, Gomez C, Fischbeck K, Gagnon D, Storey E, Bird T, Jeri FR, Ptácek LJ.

Hum Mol Genet. 1998 Mar;7(3):525-32.

PMID:
9467013
13.

Spinocerebellar ataxia 7 (SCA7).

Lebre AS, Brice A.

Cytogenet Genome Res. 2003;100(1-4):154-63. Review.

PMID:
14526176
14.

Spinocerebellar ataxia type 7 (SCA7) - correlations between phenotype and genotype in one large Belgian family.

Martin J, Van Regemorter N, Del-Favero J, Löfgren A, Van Broeckhoven C.

J Neurol Sci. 1999 Sep 15;168(1):37-46.

PMID:
10500272
15.

[Molecular analyses of intergenerational instability of CAG repeat in SCA2 gene].

Igarashi S, Tsuji S.

Nihon Rinsho. 1999 Apr;57(4):811-7. Review. Japanese.

PMID:
10222771
16.

Molecular and clinical study of spinocerebellar ataxia type 7 in Chinese kindreds.

Gu W, Wang Y, Liu X, Zhou B, Zhou Y, Wang G.

Arch Neurol. 2000 Oct;57(10):1513-8.

PMID:
11030806
17.

Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice.

Manley K, Shirley TL, Flaherty L, Messer A.

Nat Genet. 1999 Dec;23(4):471-3.

PMID:
10581038
18.

Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients.

Sato T, Oyake M, Nakamura K, Nakao K, Fukusima Y, Onodera O, Igarashi S, Takano H, Kikugawa K, Ishida Y, Shimohata T, Koide R, Ikeuchi T, Tanaka H, Futamura N, Matsumura R, Takayanagi T, Tanaka F, Sobue G, Komure O, Takahashi M, Sano A, Ichikawa Y, Goto J, Kanazawa I, et al.

Hum Mol Genet. 1999 Jan;8(1):99-106.

PMID:
9887337
19.

Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus.

Lorenzetti D, Watase K, Xu B, Matzuk MM, Orr HT, Zoghbi HY.

Hum Mol Genet. 2000 Mar 22;9(5):779-85.

PMID:
10749985
20.

The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis.

Koshy BT, Zoghbi HY.

Brain Pathol. 1997 Jul;7(3):927-42. Review.

PMID:
9217976

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