146 related articles for article (PubMed ID: 14598069)
1. Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17.
De Michele G; Maltecca F; Carella M; Volpe G; Orio M; De Falco A; Gombia S; Servadio A; Casari G; Filla A; Bruni A
Neurol Sci; 2003 Oct; 24(3):166-7. PubMed ID: 14598069
[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. 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]
4. Intergenerational instability and marked anticipation in SCA-17.
Maltecca F; Filla A; Castaldo I; Coppola G; Fragassi NA; Carella M; Bruni A; Cocozza S; Casari G; Servadio A; De Michele G
Neurology; 2003 Nov; 61(10):1441-3. PubMed ID: 14638975
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia.
Nanetti L; Magri S; Fichera M; Castaldo A; Nigri A; Pinardi C; Mongelli A; Sarro L; Pareyson D; Grisoli M; Gellera C; Di Bella D; Mariotti C; Taroni F
Mov Disord; 2023 Apr; 38(4):665-675. PubMed ID: 36799493
[TBL] [Abstract][Full Text] [Related]
8. Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy.
Abdel-Aleem A; Zaki MS
J Neurol; 2008 Mar; 255(3):413-9. PubMed ID: 18297329
[TBL] [Abstract][Full Text] [Related]
9. Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families.
De Michele G; Lieto M; Galatolo D; Salvatore E; Cocozza S; Barghigiani M; Tessa A; Baldacci J; Pappatà S; Filla A; De Michele G; Santorelli FM
Parkinsonism Relat Disord; 2019 Aug; 65():91-96. PubMed ID: 31126790
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?
Zühlke C; Gehlken U; Hellenbroich Y; Schwinger E; Bürk K
J Neurol; 2003 Feb; 250(2):161-3. PubMed ID: 12574945
[TBL] [Abstract][Full Text] [Related]
13. Mutation analysis of the TATA box-binding protein (TBP) gene in Russian patients with spinocerebellar ataxia and Huntington disease-like phenotype.
Ivanova E; Nuzhnyi E; Abramycheva N; Klyushnikov S; Fedotova E; Illarioshkin S
Clin Neurol Neurosurg; 2022 Nov; 222():107473. PubMed ID: 36252335
[TBL] [Abstract][Full Text] [Related]
14. Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation.
Bruni AC; Takahashi-Fujigasaki J; Maltecca F; Foncin JF; Servadio A; Casari G; D'Adamo P; Maletta R; Curcio SA; De Michele G; Filla A; El Hachimi KH; Duyckaerts C
Arch Neurol; 2004 Aug; 61(8):1314-20. PubMed ID: 15313853
[TBL] [Abstract][Full Text] [Related]
15. A small trinucleotide expansion in the TBP gene gives rise to a sporadic case of SCA17 with abnormal putaminal findings on MRI.
Watanabe M; Monai N; Jackson M; Yamamoto-Watanabe Y; Ikeda Y; Suzuki C; Tomiyama M; Kawarabayashi T; Kimura T; Seino Y; Wakasaya Y; Miki Y; Matsubara E; Shoji M
Intern Med; 2008; 47(24):2179-82. PubMed ID: 19075547
[TBL] [Abstract][Full Text] [Related]
16. Focal dystonia as a presenting sign of spinocerebellar ataxia 17.
Hagenah JM; Zühlke C; Hellenbroich Y; Heide W; Klein C
Mov Disord; 2004 Feb; 19(2):217-20. PubMed ID: 14978680
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17.
Rasmussen A; De Biase I; Fragoso-Benítez M; Macías-Flores MA; Yescas P; Ochoa A; Ashizawa T; Alonso ME; Bidichandani SI
Ann Neurol; 2007 Jun; 61(6):607-10. PubMed ID: 17474109
[TBL] [Abstract][Full Text] [Related]
19. Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy.
Filla A; De Michele G; Cocozza S; Patrignani A; Volpe G; Castaldo I; Ruggiero G; Bonavita V; Masters C; Casari G; Bruni A
Neurology; 2002 Mar; 58(6):922-8. PubMed ID: 11914409
[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]
