313 related articles for article (PubMed ID: 18418687)
1. Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).
Stevanin G; Brice A
Cerebellum; 2008; 7(2):170-8. PubMed ID: 18418687
[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. [Advance in research on spinocerebellar ataxia 17].
Zhang J; Gu W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Feb; 31(1):44-7. PubMed ID: 24510561
[TBL] [Abstract][Full Text] [Related]
4. Spinocerebellar Ataxia Type 17 (SCA17).
Toyoshima Y; Takahashi H
Adv Exp Med Biol; 2018; 1049():219-231. PubMed ID: 29427105
[TBL] [Abstract][Full Text] [Related]
5. Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation.
Bech S; Petersen T; Nørremølle A; Gjedde A; Ehlers L; Eiberg H; Hjermind LE; Hasholt L; Lundorf E; Nielsen JE
Parkinsonism Relat Disord; 2010 Jan; 16(1):12-5. PubMed ID: 19595623
[TBL] [Abstract][Full Text] [Related]
6. Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease.
Shatunov A; Fridman EA; Pagan FI; Leib J; Singleton A; Hallett M; Goldfarb LG
Clin Genet; 2004 Dec; 66(6):496-501. PubMed ID: 15521976
[TBL] [Abstract][Full Text] [Related]
7. Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.
Stevanin G; Fujigasaki H; Lebre AS; Camuzat A; Jeannequin C; Dode C; Takahashi J; San C; Bellance R; Brice A; Durr A
Brain; 2003 Jul; 126(Pt 7):1599-603. PubMed ID: 12805114
[TBL] [Abstract][Full Text] [Related]
8. Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48.
Magri S; Nanetti L; Gellera C; Sarto E; Rizzo E; Mongelli A; Ricci B; Fancellu R; Sambati L; Cortelli P; Brusco A; Bruzzone MG; Mariotti C; Di Bella D; Taroni F
Genet Med; 2022 Jan; 24(1):29-40. PubMed ID: 34906452
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Small-expanded allele spinocerebellar ataxia 17: imaging and phenotypic variability.
Paolini Paoletti F; Prontera P; Nigro P; Simoni S; Cappelletti G; Filidei M; Calabresi P; Parnetti L; Tambasco N
Neurol Sci; 2021 Oct; 42(10):4309-4315. PubMed ID: 34031796
[TBL] [Abstract][Full Text] [Related]
11. Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.
Mariotti C; Alpini D; Fancellu R; Soliveri P; Grisoli M; Ravaglia S; Lovati C; Fetoni V; Giaccone G; Castucci A; Taroni F; Gellera C; Di Donato S
J Neurol; 2007 Nov; 254(11):1538-46. PubMed ID: 17934876
[TBL] [Abstract][Full Text] [Related]
12. Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases.
Wu YR; Fung HC; Lee-Chen GJ; Gwinn-Hardy K; Ro LS; Chen ST; Hsieh-Li HM; Lin HY; Lin CY; Li SN; Chen CM
J Neural Transm (Vienna); 2005 Apr; 112(4):539-46. PubMed ID: 15365789
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17.
Gao R; Matsuura T; Coolbaugh M; Zühlke C; Nakamura K; Rasmussen A; Siciliano MJ; Ashizawa T; Lin X
Eur J Hum Genet; 2008 Feb; 16(2):215-22. PubMed ID: 18043721
[TBL] [Abstract][Full Text] [Related]
15. Genetically modified rodent models of SCA17.
Cui Y; Yang S; Li XJ; Li S
J Neurosci Res; 2017 Aug; 95(8):1540-1547. PubMed ID: 27859490
[TBL] [Abstract][Full Text] [Related]
16. Deactivation of TBP contributes to SCA17 pathogenesis.
Hsu TC; Wang CK; Yang CY; Lee LC; Hsieh-Li HM; Ro LS; Chen CM; Lee-Chen GJ; Su MT
Hum Mol Genet; 2014 Dec; 23(25):6878-93. PubMed ID: 25104854
[TBL] [Abstract][Full Text] [Related]
17. Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.
Sułek-Piatkowska A; Krysa W; Zdzienicka E; Szirkowiec W; Hoffman-Zacharska D; Rajkiewicz M; Fidziańska E; Kowalska G; Zaremba J
Neurol Neurochir Pol; 2008; 42(3):203-9. PubMed ID: 18651325
[TBL] [Abstract][Full Text] [Related]
18. Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient.
Saito R; Tada Y; Oikawa D; Sato Y; Seto M; Satoh A; Kume K; Ueki N; Nakashima M; Hayashi S; Toyoshima Y; Tokunaga F; Kawakami H; Kakita A
Acta Neuropathol Commun; 2022 Dec; 10(1):177. PubMed ID: 36476347
[TBL] [Abstract][Full Text] [Related]
19. Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein.
Zühlke C; Bürk K
Cerebellum; 2007; 6(4):300-7. PubMed ID: 17853080
[TBL] [Abstract][Full Text] [Related]
20. Mutation analysis of the TATA box-binding protein (TBP) gene in Chinese Han patients with spinocerebellar ataxia.
Xu Q; Li XH; Wang JL; Jiang H; Zhang S; Lei LF; Shen L; Xia K; Pan Q; Long ZG; Tang BS
J Clin Neurosci; 2009 Oct; 16(10):1374-5. PubMed ID: 19581089
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
