310 related articles for article (PubMed ID: 24500857)
1. 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. PubMed ID: 24500857
[TBL] [Abstract][Full Text] [Related]
2. TOR1A, THAP1, and GNAL mutational screening in Austrian patients with primary isolated dystonia.
Zech M; Boesch S; Sycha T; Mueller J; Poewe W; Winkelmann J
Mov Disord; 2015 Nov; 30(13):1853-4. PubMed ID: 26506956
[No Abstract] [Full Text] [Related]
3. 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. PubMed ID: 26803725
[TBL] [Abstract][Full Text] [Related]
4. Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.
Gómez-Garre P; Jesús S; Periñán MT; Adarmes A; Alonso-Canovas A; Blanco-Ollero A; Buiza-Rueda D; Carrillo F; Catalán-Alonso MJ; Del Val J; Escamilla-Sevilla F; Espinosa-Rosso R; Fernández-Moreno MC; García-Moreno JM; García-Ruiz PJ; Giacometti-Silveira S; Gutiérrez-García J; López-Valdés E; Macías-García D; Martínez-Castrillo JC; Martínez-Torres I; Medialdea-Natera MP; Mínguez-Castellanos A; Moya MÁ; Ochoa-Sepulveda JJ; Ojea T; Rodríguez N; Sillero-Sánchez M; Tejera-Parrado C; Mir P
Eur J Neurol; 2021 Apr; 28(4):1188-1197. PubMed ID: 33175450
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 24862462
[TBL] [Abstract][Full Text] [Related]
6. Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.
Lange LM; Junker J; Loens S; Baumann H; Olschewski L; Schaake S; Madoev H; Petkovic S; Kuhnke N; Kasten M; Westenberger A; Domingo A; Marras C; König IR; Camargos S; Ozelius LJ; Klein C; Lohmann K
Mov Disord; 2021 May; 36(5):1086-1103. PubMed ID: 33502045
[TBL] [Abstract][Full Text] [Related]
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; 25(16):2854-7. PubMed ID: 20925076
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 19345147
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 22377579
[TBL] [Abstract][Full Text] [Related]
10. 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; 74(3):229-38. PubMed ID: 20083799
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 23180184
[TBL] [Abstract][Full Text] [Related]
12. Inherited isolated dystonia: clinical genetics and gene function.
Dauer W
Neurotherapeutics; 2014 Oct; 11(4):807-16. PubMed ID: 25155315
[TBL] [Abstract][Full Text] [Related]
13. 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; 344(1-2):190-2. PubMed ID: 24976531
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 20825472
[TBL] [Abstract][Full Text] [Related]
15. Screening of mutations in GNAL in sporadic dystonia patients.
Dufke C; Sturm M; Schroeder C; Moll S; Ott T; Riess O; Bauer P; Grundmann K
Mov Disord; 2014 Aug; 29(9):1193-6. PubMed ID: 24408567
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 20976771
[TBL] [Abstract][Full Text] [Related]
17. De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.
Dobričić V; Kresojević N; Westenberger A; Svetel M; Tomić A; Ralić V; Petrović I; Lukić MJ; Lohmann K; Novaković I; Klein C; Kostić VS
Mov Disord; 2014 Aug; 29(9):1190-3. PubMed ID: 24729450
[TBL] [Abstract][Full Text] [Related]
18. Genetic spectrum and clinical features in a cohort of Chinese patients with isolated dystonia.
Li LX; Liu Y; Huang JH; Yang Y; Pan YG; Zhang XL; Pan LZ; Jin LJ
Clin Genet; 2023 Apr; 103(4):459-465. PubMed ID: 36648081
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 19345148
[TBL] [Abstract][Full Text] [Related]
20. Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function.
Dos Santos CO; Masuho I; da Silva-Júnior FP; Barbosa ER; Silva SM; Borges V; Ferraz HB; Rocha MS; Limongi JC; Martemyanov KA; de Carvalho Aguiar P
J Neurol; 2016 Apr; 263(4):665-8. PubMed ID: 26810727
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]