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Items: 1 to 20 of 160

1.

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, Koide R, Saito M, Sato A, Tanaka T, Hanyu S, Takiyama Y, Nishizawa M, Shimizu N, Nomura Y, Segawa M, Iwabuchi K, Eguchi I, Tanaka H, Takahashi H, Tsuji S.

Nat Genet. 1996 Nov;14(3):277-84.

PMID:
8896556
2.

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, DeJong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba S.

Nat Genet. 1996 Nov;14(3):269-76.

PMID:
8896555
3.

Identification of five spinocerebellar ataxia type 2 pedigrees in patients with autosomal dominant cerebellar ataxia in Taiwan.

Hsieh M, Li SY, Tsai CJ, Chen YY, Liu CS, Chang CY, Ro LS, Chen DF, Chen SS, Li C.

Acta Neurol Scand. 1999 Sep;100(3):189-94.

PMID:
10478584
4.

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.

Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Dürr A, Didierjean O, Stevanin G, Agid Y, Brice A.

Nat Genet. 1996 Nov;14(3):285-91.

PMID:
8896557
5.

CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms.

Choudhry S, Mukerji M, Srivastava AK, Jain S, Brahmachari SK.

Hum Mol Genet. 2001 Oct 1;10(21):2437-46.

PMID:
11689490
6.

The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia.

Lorenzetti D, Bohlega S, Zoghbi HY.

Neurology. 1997 Oct;49(4):1009-13.

PMID:
9339681
7.

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.

8.

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
9.

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

Silveira I, Coutinho P, Maciel P, Gaspar C, Hayes S, Dias A, Guimarães J, Loureiro L, Sequeiros J, Rouleau GA.

Am J Med Genet. 1998 Mar 28;81(2):134-8.

PMID:
9613852
10.
11.

Spinocerebellar ataxia type 1.

Zoghbi HY.

Clin Neurosci. 1995;3(1):5-11. Review.

PMID:
7614095
12.

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
13.

Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA.

Koob MD, Benzow KA, Bird TD, Day JW, Moseley ML, Ranum LP.

Nat Genet. 1998 Jan;18(1):72-5.

PMID:
9425905
14.

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY.

Nat Genet. 1993 Jul;4(3):221-6.

PMID:
8358429
15.

The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expression.

Nechiporuk T, Huynh DP, Figueroa K, Sahba S, Nechiporuk A, Pulst SM.

Hum Mol Genet. 1998 Aug;7(8):1301-9.

PMID:
9668173
16.

Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.

Oda M, Maruyama H, Komure O, Morino H, Terasawa H, Izumi Y, Imamura T, Yasuda M, Ichikawa K, Ogawa M, Matsumoto M, Kawakami H.

Arch Neurol. 2004 Feb;61(2):209-12.

PMID:
14967767
17.

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
18.

A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q.

Ikeuchi T, Sanpei K, Takano H, Sasaki H, Tashiro K, Cancel G, Brice A, Bird TD, Schellenberg GD, Pericak-Vance MA, Welsh-Bohmer KA, Clark LN, Wilhelmsen K, Tsuji S.

Genomics. 1998 Apr 15;49(2):321-6.

PMID:
9598323
19.

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

Chung MY, Ranum LP, Duvick LA, Servadio A, Zoghbi HY, Orr HT.

Nat Genet. 1993 Nov;5(3):254-8.

PMID:
8275090
20.

Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls.

Shizuka M, Watanabe M, Ikeda Y, Mizushima K, Okamoto K, Shoji M.

J Neurol Sci. 1998 Nov 26;161(1):85-7.

PMID:
9879686

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