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Items: 1 to 20 of 158

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

PMID:
21793105
2.

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
3.

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
4.

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
5.

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
6.

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
7.

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
8.

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
9.

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.

10.

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.

11.

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
12.

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
13.

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
14.

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
15.

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. doi: 10.1111/j.1471-4159.2011.07386.x. Epub 2011 Aug 8.

16.

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
17.

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.

18.

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
19.

[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
20.

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.

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