266 related articles for article (PubMed ID: 11708990)
1. Improvement in the molecular diagnosis of Machado-Joseph disease.
Maciel P; Costa MC; Ferro A; Rousseau M; Santos CS; Gaspar C; Barros J; Rouleau GA; Coutinho P; Sequeiros J
Arch Neurol; 2001 Nov; 58(11):1821-7. PubMed ID: 11708990
[TBL] [Abstract][Full Text] [Related]
2. Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract.
Maciel P; Gaspar C; Guimarães L; Goto J; Lopes-Cendes I; Hayes S; Arvidsson K; Dias A; Sequeiros J; Sousa A; Rouleau GA
Eur J Hum Genet; 1999; 7(2):147-56. PubMed ID: 10196697
[TBL] [Abstract][Full Text] [Related]
3. Prenatal diagnosis of Machado-Joseph disease/Spinocerebellar Ataxia Type 3 in Taiwan: early detection of expanded ataxin-3.
Tsai HF; Liu CS; Chen GD; Lin ML; Li C; Chen YY; Wang BT; Hsieh M
J Clin Lab Anal; 2003; 17(5):195-200. PubMed ID: 12938149
[TBL] [Abstract][Full Text] [Related]
4. Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability.
Takiyama Y; Sakoe K; Soutome M; Namekawa M; Ogawa T; Nakano I; Igarashi S; Oyake M; Tanaka H; Tsuji S; Nishizawa M
Hum Mol Genet; 1997 Jul; 6(7):1063-8. PubMed ID: 9215676
[TBL] [Abstract][Full Text] [Related]
5. Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease.
Takiyama Y; Igarashi S; Rogaeva EA; Endo K; Rogaev EI; Tanaka H; Sherrington R; Sanpei K; Liang Y; Saito M
Hum Mol Genet; 1995 Jul; 4(7):1137-46. PubMed ID: 8528200
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 10768629
[TBL] [Abstract][Full Text] [Related]
7. The shortest expanded allele of the MJD1 gene in a Chinese MJD kindred with autonomic dysfunction.
Gu W; Ma H; Wang K; Jin M; Zhou Y; Liu X; Wang G; Shen Y
Eur Neurol; 2004; 52(2):107-11. PubMed ID: 15316156
[TBL] [Abstract][Full Text] [Related]
8. A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus.
Martins S; Calafell F; Wong VC; Sequeiros J; Amorim A
Eur J Hum Genet; 2006 Aug; 14(8):932-40. PubMed ID: 16724006
[TBL] [Abstract][Full Text] [Related]
9. Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal.
Lima M; Costa MC; Montiel R; Ferro A; Santos C; Silva C; Bettencourt C; Sousa A; Sequeiros J; Coutinho P; Maciel P
Hum Hered; 2005; 60(3):156-63. PubMed ID: 16340213
[TBL] [Abstract][Full Text] [Related]
10. [Clinical features and gene mutation analysis in Machado-Joseph disease of spinocerebellar ataxia type 3 in littoral of Zhejiang].
Jin YY; Zeng AP; Cai HB; Wu F; Feng Z; Hong Q; Zhang L; Jiang ZK
Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi; 2009 Apr; 23(2):132-4. PubMed ID: 20104758
[TBL] [Abstract][Full Text] [Related]
11. Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report.
Bettencourt C; Santos C; Coutinho P; Rizzu P; Vasconcelos J; Kay T; Cymbron T; Raposo M; Heutink P; Lima M
BMC Neurol; 2011 Oct; 11():131. PubMed ID: 22023810
[TBL] [Abstract][Full Text] [Related]
12. Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic.
Wang YG; Du J; Wang JL; Chen J; Chen C; Luo YY; Xiao ZQ; Jiang H; Yan XX; Xia K; Pan Q; Tang BS; Shen L
J Neurol Sci; 2009 Oct; 285(1-2):121-4. PubMed ID: 19608203
[TBL] [Abstract][Full Text] [Related]
13. Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients.
Schöls L; Vieira-Saecker AM; Schöls S; Przuntek H; Epplen JT; Riess O
Hum Mol Genet; 1995 Jun; 4(6):1001-5. PubMed ID: 7655453
[TBL] [Abstract][Full Text] [Related]
14. [Analysis and application of SCA1 and SCA3/MJD gene CAG repeats in Han population in Northeastern China].
Jiang M; Jin CL; Lin CK; Qiu GR; Liu ZL; Wang CX; Sun KL
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Feb; 21(1):83-5. PubMed ID: 14767919
[TBL] [Abstract][Full Text] [Related]
15. Genetic polymorphism of MJD1 alleles and molecular analysis of SCA3 patients from Rio de Janeiro, Brazil.
Gestinari RS; Duarte SF; Pimentel MM; Lima MA
Genet Test; 2004; 8(3):281-5. PubMed ID: 15727252
[TBL] [Abstract][Full Text] [Related]
16. Regional and cellular expression of the Machado-Joseph disease gene in brains of normal and affected individuals.
Nishiyama K; Murayama S; Goto J; Watanabe M; Hashida H; Katayama S; Nomura Y; Nakamura S; Kanazawa I
Ann Neurol; 1996 Nov; 40(5):776-81. PubMed ID: 8957019
[TBL] [Abstract][Full Text] [Related]
17. Absence of spinocerebellar ataxia type 3/Machado-Joseph disease within ataxic patients in the Czech population.
Bauer PO; Zumrova A; Matoska V; Marikova T; Krilova S; Boday A; Singh B; Goetz P
Eur J Neurol; 2005 Nov; 12(11):851-7. PubMed ID: 16241973
[TBL] [Abstract][Full Text] [Related]
18. [Detection of the CAG trinucleotide repeats of MJD1 gene by recombinant DNA technology].
Zhang S; Wang JL; Xu Q; Li XH; Lei LF; Jiang H; Shen L; Yan XX; Pan Q; Xia K; Tang BS
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Aug; 26(4):406-9. PubMed ID: 20017304
[TBL] [Abstract][Full Text] [Related]
19. YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit.
Cemal CK; Carroll CJ; Lawrence L; Lowrie MB; Ruddle P; Al-Mahdawi S; King RH; Pook MA; Huxley C; Chamberlain S
Hum Mol Genet; 2002 May; 11(9):1075-94. PubMed ID: 11978767
[TBL] [Abstract][Full Text] [Related]
20. Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala.
Martins S; Soong BW; Wong VC; Giunti P; Stevanin G; Ranum LP; Sasaki H; Riess O; Tsuji S; Coutinho P; Amorim A; Sequeiros J; Nicholson GA
Arch Neurol; 2012 Jun; 69(6):746-51. PubMed ID: 22351852
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
