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Results: 1 to 20 of 105

Similar articles for PubMed (Select 23649788)

1.

Screening for rare sequence variants in the THAP1 gene in a primary dystonia cohort.

Newman JR, Lehn AC, Boyle RS, Silburn PA, Mellick GD.

Mov Disord. 2013 Oct;28(12):1752-3. doi: 10.1002/mds.25479. Epub 2013 May 6. No abstract available.

PMID:
23649788
2.

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.

3.

Mutational screening of THAP1 in a German population with primary dystonia.

Kaffe M, Gross N, Castrop F, Dresel C, Gieger C, Lichtner P, Haslinger B, Winkelmann J.

Parkinsonism Relat Disord. 2012 Jan;18(1):104-6. doi: 10.1016/j.parkreldis.2011.06.023. Epub 2011 Jul 22. No abstract available.

PMID:
21782490
4.

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
5.

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
6.

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
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.

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
9.

An African-American family with dystonia.

Puschmann A, Xiao J, Bastian RW, Searcy JA, LeDoux MS, Wszolek ZK.

Parkinsonism Relat Disord. 2011 Aug;17(7):547-50. doi: 10.1016/j.parkreldis.2011.04.019. Epub 2011 May 20.

10.

Adult-onset leg dystonia due to a missense mutation in THAP1.

Van Gerpen JA, Ledoux MS, Wszolek ZK.

Mov Disord. 2010 Jul 15;25(9):1306-7. doi: 10.1002/mds.23086. No abstract available.

11.

THAP1: role in focal dystonia?

Ozelius LJ, Bressman SB.

Neurology. 2010 Jan 19;74(3):192-3. doi: 10.1212/WNL.0b013e3181cbf069. No abstract available.

PMID:
20083795
12.

The c.-237_236GA>TT THAP1 sequence variant does not increase risk for 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, Blitzer A, Rudzińska M, Pfeiffer RF, Le C, LeDoux MS.

Mov Disord. 2011 Feb 15;26(3):549-52. doi: 10.1002/mds.23551. Epub 2011 Mar 2. Erratum in: Mov Disord. 2012 Mar;27(3):465.

13.

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

15.

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.

16.

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
17.

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
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.

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

PMID:
20687193
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