281 related articles for article (PubMed ID: 20199210)
1. A spinocerebellar ataxia family with expanded alleles in the TATA-binding protein gene and ataxin-3 gene.
Xu Q; Li Q; Wang J; Jiang H; Shen L; Li X; Tang B
Int J Neurosci; 2010 Feb; 120(2):159-61. PubMed ID: 20199210
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 14967767
[TBL] [Abstract][Full Text] [Related]
3. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
Brusco A; Gellera C; Cagnoli C; Saluto A; Castucci A; Michielotto C; Fetoni V; Mariotti C; Migone N; Di Donato S; Taroni F
Arch Neurol; 2004 May; 61(5):727-33. PubMed ID: 15148151
[TBL] [Abstract][Full Text] [Related]
4. Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.
Zühlke C; Dalski A; Schwinger E; Finckh U
BMC Med Genet; 2005 Jul; 6():27. PubMed ID: 15989694
[TBL] [Abstract][Full Text] [Related]
5. [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]
6. 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]
7. The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients.
Sułek-Piatkowska A; Zdzienicka E; Raczyńska-Rakowicz M; Krysa W; Rajkiewicz M; Szirkowiec W; Zaremba J
Neurol Neurochir Pol; 2010; 44(3):238-45. PubMed ID: 20625959
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Spinocerebellar ataxia types 2 and 3 segregating simultaneously in a single family.
França MC; Calcagnotto ME; da Costa JC; Lopes-Cendes I
Mov Disord; 2006 Jul; 21(7):1051-3. PubMed ID: 16628604
[TBL] [Abstract][Full Text] [Related]
10. Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: removal of the CAG containing exon.
Evers MM; Tran HD; Zalachoras I; Pepers BA; Meijer OC; den Dunnen JT; van Ommen GJ; Aartsma-Rus A; van Roon-Mom WM
Neurobiol Dis; 2013 Oct; 58():49-56. PubMed ID: 23659897
[TBL] [Abstract][Full Text] [Related]
11. [The clinical features and gene mutation analysis in a pedigree of spinocerebellar ataxia type 7].
Yin XZ; Zhang BR; Wu DW; Tian J; Zhang H
Yi Chuan; 2007 Jun; 29(6):688-92. PubMed ID: 17650485
[TBL] [Abstract][Full Text] [Related]
12. Cambodian founder effect for spinocerebellar ataxia type 3 (Machado-Joseph disease).
Jayadev S; Michelson S; Lipe H; Bird T
J Neurol Sci; 2006 Dec; 250(1-2):110-3. PubMed ID: 17027034
[TBL] [Abstract][Full Text] [Related]
13. [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]
14. 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]
15. Homozygosity enhances severity in spinocerebellar ataxia type 3.
Carvalho DR; La Rocque-Ferreira A; Rizzo IM; Imamura EU; Speck-Martins CE
Pediatr Neurol; 2008 Apr; 38(4):296-9. PubMed ID: 18358414
[TBL] [Abstract][Full Text] [Related]
16. Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.
Silveira I; Miranda C; Guimarães L; Moreira MC; Alonso I; Mendonça P; Ferro A; Pinto-Basto J; Coelho J; Ferreirinha F; Poirier J; Parreira E; Vale J; Januário C; Barbot C; Tuna A; Barros J; Koide R; Tsuji S; Holmes SE; Margolis RL; Jardim L; Pandolfo M; Coutinho P; Sequeiros J
Arch Neurol; 2002 Apr; 59(4):623-9. PubMed ID: 11939898
[TBL] [Abstract][Full Text] [Related]
17. Machado-Joseph disease and other rare spinocerebellar ataxias.
Matilla-Dueñas A
Adv Exp Med Biol; 2012; 724():172-88. PubMed ID: 22411243
[TBL] [Abstract][Full Text] [Related]
18. Hereditary ataxias.
Evidente VG; Gwinn-Hardy KA; Caviness JN; Gilman S
Mayo Clin Proc; 2000 May; 75(5):475-90. PubMed ID: 10807077
[TBL] [Abstract][Full Text] [Related]
19. Overexpression of the autophagic beclin-1 protein clears mutant ataxin-3 and alleviates Machado-Joseph disease.
Nascimento-Ferreira I; Santos-Ferreira T; Sousa-Ferreira L; Auregan G; Onofre I; Alves S; Dufour N; Colomer Gould VF; Koeppen A; Déglon N; Pereira de Almeida L
Brain; 2011 May; 134(Pt 5):1400-15. PubMed ID: 21478185
[TBL] [Abstract][Full Text] [Related]
20. Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene.
Nolte D; Sobanski E; Wissen A; Regula JU; Lichy C; Müller U
J Neurol Neurosurg Psychiatry; 2010 Dec; 81(12):1396-9. PubMed ID: 20587494
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]