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Results: 1 to 20 of 126

1.

Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.

Cancel G, Dürr A, Didierjean O, Imbert G, Bürk K, Lezin A, Belal S, Benomar A, Abada-Bendib M, Vial C, Guimarães J, Chneiweiss H, Stevanin G, Yvert G, Abbas N, Saudou F, Lebre AS, Yahyaoui M, Hentati F, Vernant JC, Klockgether T, Mandel JL, Agid Y, Brice A.

Hum Mol Genet. 1997 May;6(5):709-15.

PMID:
9158145
[PubMed - indexed for MEDLINE]
Free Article
2.

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
[PubMed - indexed for MEDLINE]
Free Article
3.

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group.

Pujana MA, Corral J, Gratacòs M, Combarros O, Berciano J, Genís D, Banchs I, Estivill X, Volpini V.

Hum Genet. 1999 Jun;104(6):516-22. Erratum in: Hum Genet 1999 Oct;105(4):376.

PMID:
10453742
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds.

Tang B, Liu C, Shen L, Dai H, Pan Q, Jing L, Ouyang S, Xia J.

Arch Neurol. 2000 Apr;57(4):540-4.

PMID:
10768629
[PubMed - indexed for MEDLINE]
6.

[SCA1, SCA2, MJD/SCA3 (CAG)n mutation detection and analysis in patients with hereditary spinocerebellar ataxia from Chinese families].

Tang B, Wang D, Xia J.

Zhonghua Yi Xue Za Zhi. 1997 Nov;77(11):819-22. Chinese.

PMID:
9772474
[PubMed - indexed for MEDLINE]
7.

[Clinico-genetic study of type I spinocerebelllar ataxia].

Svetel M, Culjković B, Sternić N, Dragasević B, Stojković I, Romac S, Kostić VS.

Srp Arh Celok Lek. 1999 May-Jun;127(5-6):157-62. Serbian.

PMID:
10500422
[PubMed - indexed for MEDLINE]
8.

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.

Giunti P, Sabbadini G, Sweeney MG, Davis MB, Veneziano L, Mantuano E, Federico A, Plasmati R, Frontali M, Wood NW.

Brain. 1998 Mar;121 ( Pt 3):459-67.

PMID:
9549522
[PubMed - indexed for MEDLINE]
Free Article
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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

SCA2 trinucleotide expansion in German SCA patients.

Riess O, Laccone FA, Gispert S, Schöls L, Zühlke C, Vieira-Saecker AM, Herlt S, Wessel K, Epplen JT, Weber BH, Kreuz F, Chahrokh-Zadeh S, Meindl A, Lunkes A, Aguiar J, Macek M Jr, Krebsová A, Macek M Sr, Bürk K, Tinschert S, Schreyer I, Pulst SM, Auburger G.

Neurogenetics. 1997 May;1(1):59-64.

PMID:
10735276
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.

Dürr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, Chneiweiss H, Benomar A, Lyon-Caen O, Julien J, Serdaru M, Penet C, Agid Y, Brice A.

Ann Neurol. 1996 Apr;39(4):490-9.

PMID:
8619527
[PubMed - indexed for MEDLINE]
15.

Spinocerebellar ataxia type 2 in China: molecular analysis and genotype-phenotype correlation in nine families.

Zhou YX, Wang GX, Tang BS, Li WD, Wang DA, Lee HS, Sambuughin N, Zhou LS, Tsuji S, Yang BX, Goldfarb LG.

Neurology. 1998 Aug;51(2):595-8.

PMID:
9710044
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation.

Johansson J, Forsgren L, Sandgren O, Brice A, Holmgren G, Holmberg M.

Hum Mol Genet. 1998 Feb;7(2):171-6.

PMID:
9425223
[PubMed - indexed for MEDLINE]
Free Article
18.

Analysis of spinocerebellar ataxia type 2 in Gunma Prefecture in Japan: CAG trinucleotide expansion and clinical characteristics.

Mizushima K, Watanabe M, Abe K, Aoki M, Itoyama Y, Shizuka M, Okamoto K, Shoji M.

J Neurol Sci. 1998 Apr 1;156(2):180-5.

PMID:
9588855
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
Free Article
20.

Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1.

Goldfarb LG, Vasconcelos O, Platonov FA, Lunkes A, Kipnis V, Kononova S, Chabrashvili T, Vladimirtsev VA, Alexeev VP, Gajdusek DC.

Ann Neurol. 1996 Apr;39(4):500-6.

PMID:
8619528
[PubMed - indexed for MEDLINE]

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