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Items: 1 to 20 of 112

1.

The genetics of dystonias.

LeDoux MS.

Adv Genet. 2012;79:35-85. doi: 10.1016/B978-0-12-394395-8.00002-5. Review.

2.

Classification and genetics of dystonia.

de Carvalho Aguiar PM, Ozelius LJ.

Lancet Neurol. 2002 Sep;1(5):316-25. Review.

PMID:
12849429
3.

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.

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

PMID:
20825472
5.

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
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.

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.

8.

Inherited isolated dystonia: clinical genetics and gene function.

Dauer W.

Neurotherapeutics. 2014 Oct;11(4):807-16. doi: 10.1007/s13311-014-0297-7. Review.

9.

Genetics and pharmacological treatment of dystonia.

Barrett MJ, Bressman S.

Int Rev Neurobiol. 2011;98:525-49. doi: 10.1016/B978-0-12-381328-2.00019-5. Review.

PMID:
21907099
10.

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
11.

[New approaches in dystonia (clinical features, genetic issues and pathophysiology].

Vidailhet M, Grabli D.

Bull Acad Natl Med. 2011 Apr-May;195(4-5):921-34; discussion 934. Review. French.

PMID:
22375360
12.

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
13.

Dystonia: phenomenology.

LeDoux MS.

Parkinsonism Relat Disord. 2012 Jan;18 Suppl 1:S162-4. doi: 10.1016/S1353-8020(11)70050-5. Review.

14.

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.

15.

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
16.

High variability of clinical symptoms in a Polish family with a novel THAP1 mutation.

Gajos A, Golańska E, Sieruta M, Szybka M, Liberski PP, Bogucki A.

Int J Neurosci. 2015;125(10):755-9. doi: 10.3109/00207454.2014.981749. Epub 2014 Nov 11.

PMID:
25385508
17.

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
18.

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.

19.

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
20.

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 1;27(10):1290-4. doi: 10.1002/mds.25146. Epub 2012 Aug 17. Review.

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