164 related articles for article (PubMed ID: 18477710)
1. Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).
Zirn B; Grundmann K; Huppke P; Puthenparampil J; Wolburg H; Riess O; Müller U
J Neurol Neurosurg Psychiatry; 2008 Dec; 79(12):1327-30. PubMed ID: 18477710
[TBL] [Abstract][Full Text] [Related]
2. Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited.
Dobričić V; Kresojević N; Žarković M; Tomić A; Marjanović A; Westenberger A; Cvetković D; Svetel M; Novaković I; Kostić VS
Parkinsonism Relat Disord; 2015 Oct; 21(10):1256-9. PubMed ID: 26297380
[TBL] [Abstract][Full Text] [Related]
3. High-throughput mutational analysis of TOR1A in primary dystonia.
Xiao J; Bastian RW; Perlmutter JS; Racette BA; Tabbal SD; Karimi M; Paniello RC; Blitzer A; Batish SD; Wszolek ZK; Uitti RJ; Hedera P; Simon DK; Tarsy D; Truong DD; Frei KP; Pfeiffer RF; Gong S; Zhao Y; LeDoux MS
BMC Med Genet; 2009 Mar; 10():24. PubMed ID: 19284587
[TBL] [Abstract][Full Text] [Related]
4. Cellular analysis of a novel mutation p. Ser287Tyr in TOR1A in late-onset isolated dystonia.
Xu L; Yang Z; Li W; Luo Z; Zhang C; Huang X; Ma S; Long Y; Chu Y; Qian Y; Wang X; Sun H
Neurobiol Dis; 2020 Jul; 140():104851. PubMed ID: 32243914
[TBL] [Abstract][Full Text] [Related]
5. Deletion variant rs35153737 in TOR1A is associated with isolated dystonia in a Southwestern Chinese Population.
Li J; Long Y; Huang X; Chen Y; Chen W; Liu S; Chu J; Yang Z; Sun H; Fang K
Neurosci Lett; 2017 Sep; 657():1-4. PubMed ID: 28756192
[TBL] [Abstract][Full Text] [Related]
6. Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.
Calakos N; Patel VD; Gottron M; Wang G; Tran-Viet KN; Brewington D; Beyer JL; Steffens DC; Krishnan RR; Züchner S
J Med Genet; 2010 Sep; 47(9):646-50. PubMed ID: 19955557
[TBL] [Abstract][Full Text] [Related]
7. Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia.
Cheng FB; Feng JC; Ma LY; Miao J; Ott T; Wan XH; Grundmann K
Mov Disord; 2014 Jul; 29(8):1079-83. PubMed ID: 24862462
[TBL] [Abstract][Full Text] [Related]
8. Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models.
Bhagat SL; Qiu S; Caffall ZF; Wan Y; Pan Y; Rodriguiz RM; Wetsel WC; Badea A; Hochgeschwender U; Calakos N
Neurobiol Dis; 2016 Sep; 93():137-45. PubMed ID: 27168150
[TBL] [Abstract][Full Text] [Related]
9. Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion.
De Carvalho Aguiar P; Fuchs T; Borges V; Lamar KM; Silva SM; Ferraz HB; Ozelius L
Mov Disord; 2010 Dec; 25(16):2854-7. PubMed ID: 20925076
[TBL] [Abstract][Full Text] [Related]
10. Phenotype of the DYT1 mutation in the TOR1A gene in a Polish population of patients with dystonia. A preliminary report.
Gajos A; Piaskowski S; Sławek J; Ochudło S; Opala G; Łobińska A; Honczarenko K; Budrewicz S; Koszewicz M; Pełszyńska B; Liberski PP; Bogucki A
Neurol Neurochir Pol; 2007; 41(6):487-94. PubMed ID: 18224570
[TBL] [Abstract][Full Text] [Related]
11. Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A.
Hettich J; Ryan SD; de Souza ON; Saraiva Macedo Timmers LF; Tsai S; Atai NA; da Hora CC; Zhang X; Kothary R; Snapp E; Ericsson M; Grundmann K; Breakefield XO; Nery FC
Hum Mutat; 2014 Sep; 35(9):1101-13. PubMed ID: 24930953
[TBL] [Abstract][Full Text] [Related]
12. A rare variant in TOR1A exon 5 associated with isolated dystonia in southwestern Chinese.
Long Y; Chen Y; Qian Y; Wang J; Luo L; Huang X; Li L; Chu J; Yang Z; Sun H
Mov Disord; 2017 Jul; 32(7):1083-1087. PubMed ID: 28432771
[TBL] [Abstract][Full Text] [Related]
13. [Identification of DYT1 mutation in patients with primary torsion dystonia patients in China].
Yang JF; Li JY; Li YJ; Zhang YL; Chen B
Zhonghua Yi Xue Za Zhi; 2007 Sep; 87(33):2324-7. PubMed ID: 18036294
[TBL] [Abstract][Full Text] [Related]
14. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).
Kaiser FJ; Osmanoric A; Rakovic A; Erogullari A; Uflacker N; Braunholz D; Lohnau T; Orolicki S; Albrecht M; Gillessen-Kaesbach G; Klein C; Lohmann K
Ann Neurol; 2010 Oct; 68(4):554-9. PubMed ID: 20976771
[TBL] [Abstract][Full Text] [Related]
15. Generation of gene-corrected isogenic control cell lines from a DYT1 dystonia patient iPSC line carrying a heterozygous GAG mutation in TOR1A gene.
Akter M; Cui H; Chen YH; Ding B
Stem Cell Res; 2022 Jul; 62():102807. PubMed ID: 35533513
[TBL] [Abstract][Full Text] [Related]
16. New THAP1 mutation and role of putative modifier in TOR1A.
Piovesana LG; Torres FR; Azevedo PC; Amaral TP; Lopes-Cendes I; D'Abreu A
Acta Neurol Scand; 2017 Feb; 135(2):183-188. PubMed ID: 26940431
[TBL] [Abstract][Full Text] [Related]
17. Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations.
Vulinovic F; Lohmann K; Rakovic A; Capetian P; Alvarez-Fischer D; Schmidt A; Weißbach A; Erogullari A; Kaiser FJ; Wiegers K; Ferbert A; Rolfs A; Klein C; Seibler P
Hum Mutat; 2014 Sep; 35(9):1114-22. PubMed ID: 24931141
[TBL] [Abstract][Full Text] [Related]
18. Characterization of the porcine TOR1A gene: The first step towards generation of a pig model for dystonia.
Henriksen C; Madsen LB; Bendixen C; Larsen K
Gene; 2009 Feb; 430(1-2):105-15. PubMed ID: 19028553
[TBL] [Abstract][Full Text] [Related]
19. Clinical characteristics of carriers of a GAG deletion in the DYT1 gene amongst Polish patients with primary dystonia.
Szczaluba K; Jurek M; Milewski M; Friedman A; Kadziolka B; Szolna A; Bal J; Mazurczak T
Eur J Neurol; 2007 Jun; 14(6):659-62. PubMed ID: 17539945
[TBL] [Abstract][Full Text] [Related]
20. Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm.
Opal P; Tintner R; Jankovic J; Leung J; Breakefield XO; Friedman J; Ozelius L
Mov Disord; 2002 Mar; 17(2):339-45. PubMed ID: 11921121
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
