163 related articles for article (PubMed ID: 11757956)
1. DYT1 mutation in primary torsion dystonia in a Serbian population.
Major T; Svetel M; Romac S; Kostić VS
J Neurol; 2001 Nov; 248(11):940-3. PubMed ID: 11757956
[TBL] [Abstract][Full Text] [Related]
2. Frequency of the DYT1 mutation in primary torsion dystonia without family history.
Brassat D; Camuzat A; Vidailhet M; Feki I; Jedynak P; Klap P; Agid Y; Dürr A; Brice A
Arch Neurol; 2000 Mar; 57(3):333-5. PubMed ID: 10714658
[TBL] [Abstract][Full Text] [Related]
3. The DYT1 phenotype and guidelines for diagnostic testing.
Bressman SB; Sabatti C; Raymond D; de Leon D; Klein C; Kramer PL; Brin MF; Fahn S; Breakefield X; Ozelius LJ; Risch NJ
Neurology; 2000 May; 54(9):1746-52. PubMed ID: 10802779
[TBL] [Abstract][Full Text] [Related]
4. Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.
Klein C; Friedman J; Bressman S; Vieregge P; Brin MF; Pramstaller PP; De Leon D; Hagenah J; Sieberer M; Fleet C; Kiely R; Xin W; Breakefield XO; Ozelius LJ; Sims KB
Genet Test; 1999; 3(4):323-8. PubMed ID: 10627938
[TBL] [Abstract][Full Text] [Related]
5. Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.
Gambarin M; Valente EM; Liberini P; Barrano G; Bonizzato A; Padovani A; Moretto G; Fiorio M; Dallapiccola B; Smania N; Fiaschi A; Tinazzi M
Mov Disord; 2006 Oct; 21(10):1782-4. PubMed ID: 16874761
[TBL] [Abstract][Full Text] [Related]
6. The role of DYT1 in primary torsion dystonia in Europe.
Valente EM; Warner TT; Jarman PR; Mathen D; Fletcher NA; Marsden CD; Bhatia KP; Wood NW
Brain; 1998 Dec; 121 ( Pt 12)():2335-9. PubMed ID: 9874484
[TBL] [Abstract][Full Text] [Related]
7. Inherited and de novo mutations in sporadic cases of DYT1-dystonia.
Hjermind LE; Werdelin LM; Sørensen SA
Eur J Hum Genet; 2002 Mar; 10(3):213-6. PubMed ID: 11973627
[TBL] [Abstract][Full Text] [Related]
8. De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.
Klein C; Brin MF; de Leon D; Limborska SA; Ivanova-Smolenskaya IA; Bressman SB; Friedman A; Markova ED; Risch NJ; Breakefield XO; Ozelius LJ
Hum Mol Genet; 1998 Jul; 7(7):1133-6. PubMed ID: 9618171
[TBL] [Abstract][Full Text] [Related]
9. DYT1 mutation in Japanese patients with primary torsion dystonia.
Matsumoto S; Nishimura M; Kaji R; Sakamoto T; Mezaki T; Shimazu H; Murase N; Shibasaki H
Neuroreport; 2001 Mar; 12(4):793-5. PubMed ID: 11277585
[TBL] [Abstract][Full Text] [Related]
10. Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.
Leung JC; Klein C; Friedman J; Vieregge P; Jacobs H; Doheny D; Kamm C; DeLeon D; Pramstaller PP; Penney JB; Eisengart M; Jankovic J; Gasser T; Bressman SB; Corey DP; Kramer P; Brin MF; Ozelius LJ; Breakefield XO
Neurogenetics; 2001 Jul; 3(3):133-43. PubMed ID: 11523564
[TBL] [Abstract][Full Text] [Related]
11. Primary torsion dystonia due to the Tor1A GAG deletion in an Irish family.
O'Riordan S; Cockburn D; Barton D; Lynch T; Hutchinson M
Ir J Med Sci; 2002; 171(1):31-2. PubMed ID: 11993591
[TBL] [Abstract][Full Text] [Related]
12. Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.
Grundmann K; Laubis-Herrmann U; Bauer I; Dressler D; Vollmer-Haase J; Bauer P; Stuhrmann M; Schulte T; Schöls L; Topka H; Riess O
Arch Neurol; 2003 Sep; 60(9):1266-70. PubMed ID: 12975293
[TBL] [Abstract][Full Text] [Related]
13. Phenotypic variability of the DYT1 mutation in German dystonia patients.
Leube B; Kessler KR; Ferbert A; Ebke M; Schwendemann G; Erbguth F; Benecke R; Auburger G
Acta Neurol Scand; 1999 Apr; 99(4):248-51. PubMed ID: 10225357
[TBL] [Abstract][Full Text] [Related]
14. The DYT1 GAG deletion is infrequent in sporadic and familial writer' s cramp.
Kamm C; Naumann M; Mueller J; Mai N; Riedel L; Wissel J; Gasser T
Mov Disord; 2000 Nov; 15(6):1238-41. PubMed ID: 11104212
[TBL] [Abstract][Full Text] [Related]
15. No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia.
Tuffery-Giraud S; Cavalier L; Roubertie A; Guittard C; Carles S; Calvas P; Echenne B; Coubes P; Claustres M
J Med Genet; 2001 Oct; 38(10):E35. PubMed ID: 11584049
[No Abstract] [Full Text] [Related]
16. DYT1 mutations in early onset primary torsion dystonia and Parkinson disease patients in Chinese populations.
Yang JF; Wu T; Li JY; Li YJ; Zhang YL; Chan P
Neurosci Lett; 2009 Jan; 450(2):117-21. PubMed ID: 19038309
[TBL] [Abstract][Full Text] [Related]
17. Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations.
Valente EM; Povey S; Warner TT; Wood NW; Davis MB
Ann Hum Genet; 1999 Jan; 63(Pt 1):1-8. PubMed ID: 10738516
[TBL] [Abstract][Full Text] [Related]
18. Search for a founder mutation in idiopathic focal dystonia from Northern Germany.
Klein C; Ozelius LJ; Hagenah J; Breakefield XO; Risch NJ; Vieregge P
Am J Hum Genet; 1998 Dec; 63(6):1777-82. PubMed ID: 9837831
[TBL] [Abstract][Full Text] [Related]
19. A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia.
Slominsky PA; Markova ED; Shadrina MI; Illarioshkin SN; Miklina NI; Limborska SA; Ivanova-Smolenskaya IA
Hum Mutat; 1999 Sep; 14(3):269. PubMed ID: 10477437
[TBL] [Abstract][Full Text] [Related]
20. Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.
Fasano A; Nardocci N; Elia AE; Zorzi G; Bentivoglio AR; Albanese A
Mov Disord; 2006 Sep; 21(9):1411-8. PubMed ID: 16773641
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
