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Items: 1 to 20 of 151

1.

Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia.

da Silva-Junior FP, dos Santos CO, Silva SM, Barbosa ER, Borges V, Ferraz HB, Limongi JC, Rocha MS, de Carvalho Aguiar P.

J Neurol Sci. 2014 Sep 15;344(1-2):190-2. doi: 10.1016/j.jns.2014.06.012. Epub 2014 Jun 17.

PMID:
24976531
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. doi: 10.1016/S1474-4422(09)70083-3. Epub 2009 Apr 1.

PMID:
19345148
3.

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
4.

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.

5.

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
6.

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
7.

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
8.

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. doi: 10.1016/j.parkreldis.2012.02.001. Epub 2012 Feb 28. Review.

9.

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 30;25(14):2405-12. doi: 10.1002/mds.23279.

PMID:
20687193
10.

Prevalence of THAP1 sequence variants in German patients with primary dystonia.

Söhn AS, Glöckle N, Doetzer AD, Deuschl G, Felbor U, Topka HR, Schöls L, Riess O, Bauer P, Müller U, Grundmann K.

Mov Disord. 2010 Sep 15;25(12):1982-6. doi: 10.1002/mds.23207.

PMID:
20669277
11.

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. doi: 10.1016/S1474-4422(09)70081-X. Epub 2009 Apr 1.

12.

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 19;74(3):229-38. doi: 10.1212/WNL.0b013e3181ca00ca.

13.

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
14.

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
15.

Novel THAP1 gene mutations in patients with primary dystonia from southwest China.

Song W, Chen Y, Huang R, Chen K, Pan P, Yang Y, Shang HF.

J Neurol Sci. 2011 Oct 15;309(1-2):63-7. doi: 10.1016/j.jns.2011.07.023. Epub 2011 Aug 11.

PMID:
21839475
16.

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 9;74(10):846-50. doi: 10.1212/WNL.0b013e3181d5276d.

17.

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. doi: 10.1016/j.pjnns.2014.07.003. Epub 2014 Jul 29.

PMID:
25168324
18.

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
19.

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. doi: 10.1038/ejhg.2011.159. Epub 2011 Aug 17.

20.

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

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