210 related articles for article (PubMed ID: 21793105)
1. 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]
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. 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]
4. 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]
5. Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain.
Sengel C; Gavarini S; Sharma N; Ozelius LJ; Bragg DC
J Neurochem; 2011 Sep; 118(6):1087-100. PubMed ID: 21752024
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Intrafamilial variability of the primary dystonia DYT6 phenotype caused by p.Cys5Trp mutation in THAP1 gene.
Jurek M; Hoffman-Zacharska D; Koziorowski D; Mądry J; Friedman A; Bal J
Neurol Neurochir Pol; 2014; 48(4):254-7. PubMed ID: 25168324
[TBL] [Abstract][Full Text] [Related]
9. Mutation screening of the DYT6/THAP1 gene in Italy.
Bonetti M; Barzaghi C; Brancati F; Ferraris A; Bellacchio E; Giovanetti A; Ialongo T; Zorzi G; Piano C; Petracca M; Albanese A; Nardocci N; Dallapiccola B; Bentivoglio AR; Garavaglia B; Valente EM
Mov Disord; 2009 Dec; 24(16):2424-7. PubMed ID: 19908325
[TBL] [Abstract][Full Text] [Related]
10. Subcellular distribution of THAP1 and alterations in the microstructure of brain white matter in DYT6 dystonia.
Cheng FB; Wan XH; Feng JC; Ma LY; Hou B; Feng F; Wang L; Yang YM
Parkinsonism Relat Disord; 2012 Sep; 18(8):978-82. PubMed ID: 22652465
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Loss of the dystonia gene Thap1 leads to transcriptional deficits that converge on common pathogenic pathways in dystonic syndromes.
Frederick NM; Shah PV; Didonna A; Langley MR; Kanthasamy AG; Opal P
Hum Mol Genet; 2019 Apr; 28(8):1343-1356. PubMed ID: 30590536
[TBL] [Abstract][Full Text] [Related]
13. No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia.
Kamm C; Uflacker N; Asmus F; Schrader C; Wolters A; Wittstock M; Pahnke J; Gasser T; Volkmann J; Münchau A; Hagenah J; Benecke R; Klein C; Lohmann K
Mov Disord; 2011 Sep; 26(11):2136-7. PubMed ID: 21638323
[No Abstract] [Full Text] [Related]
14. 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]
15. 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]
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 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]
18. Singular DYT6 phenotypes in association with new THAP1 frameshift mutations.
Blanchard A; Roubertie A; Simonetta-Moreau M; Ea V; Coquart C; Frederic MY; Gallouedec G; Adenis JP; Benatru I; Borg M; Burbaud P; Calvas P; Cif L; Damier P; Destee A; Faivre L; Guyant-Marechal L; Janik P; Janoura S; Kreisler A; Lusakowska A; Odent S; Potulska-Chromik A; Rudzińska M; Thobois S; Vuillaume I; Tranchant C; Tuffery-Giraud S; Coubes P; Sablonnière B; Claustres M; Collod-Béroud G
Mov Disord; 2011 Aug; 26(9):1775-7. PubMed ID: 21520283
[No Abstract] [Full Text] [Related]
19. The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias.
Mazars R; Gonzalez-de-Peredo A; Cayrol C; Lavigne AC; Vogel JL; Ortega N; Lacroix C; Gautier V; Huet G; Ray A; Monsarrat B; Kristie TM; Girard JP
J Biol Chem; 2010 Apr; 285(18):13364-71. PubMed ID: 20200153
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
