199 related articles for article (PubMed ID: 21847143)
1. Identification and functional analysis of novel THAP1 mutations.
Lohmann K; Uflacker N; Erogullari A; Lohnau T; Winkler S; Dendorfer A; Schneider SA; Osmanovic A; Svetel M; Ferbert A; Zittel S; Kühn AA; Schmidt A; Altenmüller E; Münchau A; Kamm C; Wittstock M; Kupsch A; Moro E; Volkmann J; Kostic V; Kaiser FJ; Klein C; Brüggemann N
Eur J Hum Genet; 2012 Feb; 20(2):171-5. PubMed ID: 21847143
[TBL] [Abstract][Full Text] [Related]
2. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.
Djarmati A; Schneider SA; Lohmann K; Winkler S; Pawlack H; Hagenah J; Brüggemann N; Zittel S; Fuchs T; Raković A; Schmidt A; Jabusch HC; Wilcox R; Kostić VS; Siebner H; Altenmüller E; Münchau A; Ozelius LJ; Klein C
Lancet Neurol; 2009 May; 8(5):447-52. PubMed ID: 19345148
[TBL] [Abstract][Full Text] [Related]
3. Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions.
Golanska E; Gajos A; Sieruta M; Szybka M; Rudzinska M; Ochudlo S; Kmiec T; Liberski PP; Bogucki A
PLoS One; 2015; 10(6):e0129656. PubMed ID: 26087139
[TBL] [Abstract][Full Text] [Related]
4. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.
Bressman SB; Raymond D; Fuchs T; Heiman GA; Ozelius LJ; Saunders-Pullman R
Lancet Neurol; 2009 May; 8(5):441-6. PubMed ID: 19345147
[TBL] [Abstract][Full Text] [Related]
5. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.
Houlden H; Schneider SA; Paudel R; Melchers A; Schwingenschuh P; Edwards M; Hardy J; Bhatia KP
Neurology; 2010 Mar; 74(10):846-50. PubMed ID: 20211909
[TBL] [Abstract][Full Text] [Related]
6. Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.
LeDoux MS; Xiao J; Rudzińska M; Bastian RW; Wszolek ZK; Van Gerpen JA; Puschmann A; Momčilović D; Vemula SR; Zhao Y
Parkinsonism Relat Disord; 2012 Jun; 18(5):414-25. PubMed ID: 22377579
[TBL] [Abstract][Full Text] [Related]
7. Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.
Saunders-Pullman R; Fuchs T; San Luciano M; Raymond D; Brashear A; Ortega R; Deik A; Ozelius LJ; Bressman SB
Mov Disord; 2014 May; 29(6):812-8. PubMed ID: 24500857
[TBL] [Abstract][Full Text] [Related]
8. Novel THAP1 sequence variants in primary dystonia.
Xiao J; Zhao Y; Bastian RW; Perlmutter JS; Racette BA; Tabbal SD; Karimi M; Paniello RC; Wszolek ZK; Uitti RJ; Van Gerpen JA; Simon DK; Tarsy D; Hedera P; Truong DD; Frei KP; Dev Batish S; Blitzer A; Pfeiffer RF; Gong S; LeDoux MS
Neurology; 2010 Jan; 74(3):229-38. PubMed ID: 20083799
[TBL] [Abstract][Full Text] [Related]
9. DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.
Blanchard A; Ea V; Roubertie A; Martin M; Coquart C; Claustres M; Béroud C; Collod-Béroud G
Hum Mutat; 2011 Nov; 32(11):1213-24. PubMed ID: 21793105
[TBL] [Abstract][Full Text] [Related]
10. Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia.
Dobričić VS; Kresojević ND; Svetel MV; Janković MZ; Petrović IN; Tomić AD; Novaković IV; Kostić VS
J Neurol; 2013 Apr; 260(4):1037-42. PubMed ID: 23180184
[TBL] [Abstract][Full Text] [Related]
11. THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.
Cheng FB; Ozelius LJ; Wan XH; Feng JC; Ma LY; Yang YM; Wang L
J Neurol; 2012 Feb; 259(2):342-7. PubMed ID: 21800139
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression.
Hollstein R; Reiz B; Kötter L; Richter A; Schaake S; Lohmann K; Kaiser FJ
Hum Mol Genet; 2017 Aug; 26(15):2975-2983. PubMed ID: 28486698
[TBL] [Abstract][Full Text] [Related]
14. DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.
Groen JL; Ritz K; Contarino MF; van de Warrenburg BP; Aramideh M; Foncke EM; van Hilten JJ; Schuurman PR; Speelman JD; Koelman JH; de Bie RM; Baas F; Tijssen MA
Mov Disord; 2010 Oct; 25(14):2420-7. PubMed ID: 20687191
[TBL] [Abstract][Full Text] [Related]
15. Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China.
Cheng FB; Wan XH; Feng JC; Wang L; Yang YM; Cui LY
Eur J Neurol; 2011 Mar; 18(3):497-503. PubMed ID: 20825472
[TBL] [Abstract][Full Text] [Related]
16. THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.
Xiromerisiou G; Houlden H; Scarmeas N; Stamelou M; Kara E; Hardy J; Lees AJ; Korlipara P; Limousin P; Paudel R; Hadjigeorgiou GM; Bhatia KP
Mov Disord; 2012 Sep; 27(10):1290-4. PubMed ID: 22903657
[TBL] [Abstract][Full Text] [Related]
17. THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.
Erogullari A; Hollstein R; Seibler P; Braunholz D; Koschmidder E; Depping R; Eckhold J; Lohnau T; Gillessen-Kaesbach G; Grünewald A; Rakovic A; Lohmann K; Kaiser FJ
Biochim Biophys Acta; 2014 Nov; 1839(11):1196-204. PubMed ID: 25088175
[TBL] [Abstract][Full Text] [Related]
18. High variability of clinical symptoms in a Polish family with a novel THAP1 mutation.
Gajos A; Golańska E; Sieruta M; Szybka M; Liberski PP; Bogucki A
Int J Neurosci; 2015; 125(10):755-9. PubMed ID: 25385508
[TBL] [Abstract][Full Text] [Related]
19. In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.
Richter A; Hollstein R; Hebert E; Vulinovic F; Eckhold J; Osmanovic A; Depping R; Kaiser FJ; Lohmann K
J Mol Neurosci; 2017 May; 62(1):11-16. PubMed ID: 28299530
[TBL] [Abstract][Full Text] [Related]
20. Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families.
Zittel S; Moll CK; Brüggemann N; Tadic V; Hamel W; Kasten M; Lohmann K; Lohnau T; Winkler S; Gerloff C; Schönweiler R; Hagenah J; Klein C; Münchau A; Schneider SA
Mov Disord; 2010 Oct; 25(14):2405-12. PubMed ID: 20687193
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]