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Items: 1 to 20 of 128

1.

Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients.

Palada V, Stiern S, Glöckle N, Gómez-Garre P, Carrillo F, Mir P, Szczaluba K, Tinazzi M, Ajena D, Romani M, Valente EM, Müller U, Bauer P, Riess O, Ott T, Grundmann K.

Mov Disord. 2012 Jun;27(7):917. doi: 10.1002/mds.24974. Epub 2012 Apr 16. No abstract available.

PMID:
22508326
2.

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. doi: 10.1002/mds.23777. Epub 2011 Jun 2. No abstract available.

PMID:
21638323
3.

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. doi: 10.1111/j.1468-1331.2010.03192.x. Epub 2010 Sep 6.

PMID:
20825472
4.

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. doi: 10.1002/ana.22157.

PMID:
20976771
5.

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 15;25(16):2854-7. doi: 10.1002/mds.23133.

PMID:
20925076
6.

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 15;24(16):2424-7. doi: 10.1002/mds.22861.

PMID:
19908325
7.

Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype.

Clot F, Grabli D, Burbaud P, Aya M, Derkinderen P, Defebvre L, Damier P, Krystkowiak P, Pollak P, Leguern E, San C, Camuzat A, Roze E, Vidailhet M, Durr A, Brice A.

Neurogenetics. 2011 Feb;12(1):87-9. doi: 10.1007/s10048-010-0264-3. Epub 2010 Nov 26. No abstract available.

PMID:
21110056
8.

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 1;26(9):1775-7. doi: 10.1002/mds.23641. Epub 2011 Apr 25. No abstract available.

PMID:
21520283
9.

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. doi: 10.1002/mds.25818. Epub 2014 Feb 5.

10.

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. doi: 10.1002/humu.21564. Epub 2011 Sep 15. Review.

PMID:
21793105
11.

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. doi: 10.1002/mds.25921. Epub 2014 May 23.

PMID:
24862462
12.

[Monogenetic dystonia: revisiting the dopaminergic hypothesis].

Blanchard A, Roubertie A, Frédéric MY, Claustres M, Collod-Béroud G.

Rev Neurol (Paris). 2010 Apr;166(4):389-99. doi: 10.1016/j.neurol.2009.09.007. Review. French.

PMID:
19836812
13.

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. doi: 10.1016/j.parkreldis.2012.05.008. Epub 2012 May 30.

PMID:
22652465
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 30;25(14):2420-7. doi: 10.1002/mds.23285.

PMID:
20687191
15.

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. doi: 10.1007/s00415-012-6753-6. Epub 2012 Nov 20.

PMID:
23180184
16.

Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population.

Wang L, Duan C, Gao Y, Xu W, Ding J, Liu VT, Wu Y.

Clin Neurol Neurosurg. 2016 Mar;142:26-30. doi: 10.1016/j.clineuro.2016.01.018. Epub 2016 Jan 12.

PMID:
26803725
17.

Genetics and treatment of dystonia.

Schwarz CS, Bressman SB.

Neurol Clin. 2009 Aug;27(3):697-718, vi. doi: 10.1016/j.ncl.2009.04.010. Review.

PMID:
19555827
18.

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. doi: 10.1111/ane.12579. Epub 2016 Mar 4.

PMID:
26940431
19.

Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion.

Miyamoto R, Ohta E, Kawarai T, Koizumi H, Sako W, Izumi Y, Obata F, Kaji R.

Mov Disord. 2012 Sep 1;27(10):1324-5. doi: 10.1002/mds.25106. Epub 2012 Jul 20. No abstract available.

PMID:
22821615
20.

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. doi: 10.1007/s00415-011-6196-5. Epub 2011 Jul 29.

PMID:
21800139

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