51 related articles for article (PubMed ID: 25168324)
1. Abnormal cerebellar function and tremor in a mouse model for non-manifesting partially penetrant dystonia type 6.
van der Heijden ME; Kizek DJ; Perez R; Ruff EK; Ehrlich ME; Sillitoe RV
J Physiol; 2021 Apr; 599(7):2037-2054. PubMed ID: 33369735
[TBL] [Abstract][Full Text] [Related]
2. A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding.
Yellajoshyula D; Rogers AE; Kim AJ; Kim S; Pappas SS; Dauer WT
Hum Mol Genet; 2022 Mar; 31(7):1096-1104. PubMed ID: 34686877
[TBL] [Abstract][Full Text] [Related]
3. DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery.
Diaw SH; Delcambre S; Much C; Ott F; Kostic VS; Gajos A; Münchau A; Zittel S; Busch H; Grünewald A; Klein C; Lohmann K
Neurogenetics; 2024 Apr; 25(2):141-147. PubMed ID: 38498291
[TBL] [Abstract][Full Text] [Related]
4. Genetic Update and Treatment for Dystonia.
Koptielow J; Szyłak E; Szewczyk-Roszczenko O; Roszczenko P; Kochanowicz J; Kułakowska A; Chorąży M
Int J Mol Sci; 2024 Mar; 25(7):. PubMed ID: 38612382
[TBL] [Abstract][Full Text] [Related]
5. Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.
Atasu B; Simón-Sánchez J; Hanagasi H; Bilgic B; Hauser AK; Guven G; Heutink P; Gasser T; Lohmann E
J Med Genet; 2024 Apr; 61(5):443-451. PubMed ID: 38458754
[TBL] [Abstract][Full Text] [Related]
6. Transcriptional regulatory network for neuron-glia interactions and its implication for DYT6 dystonia.
Yellajoshyula D
Dystonia; 2023; 2():. PubMed ID: 38737544
[TBL] [Abstract][Full Text] [Related]
7. Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report.
Danti FR; Sarmiento IJK; Moloney PB; Colangelo I; Graziola F; Garavaglia B; Zorzi G; Mencacci NE; Lubbe SJ
Mov Disord; 2024 Apr; 39(4):747-749. PubMed ID: 38380600
[No Abstract] [Full Text] [Related]
8. Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing.
Sun ZF; Zhang YH; Guo JF; Sun QY; Mei JP; Zhou HL; Guan LP; Tian JY; Hu ZM; Li JD; Xia K; Yan XX; Tang BS
PLoS One; 2014; 9(9):e106388. PubMed ID: 25181484
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 21793105
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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. PubMed ID: 25168324
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 19345148
[TBL] [Abstract][Full Text] [Related]
13. 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; 25(14):2405-12. PubMed ID: 20687193
[TBL] [Abstract][Full Text] [Related]
14. 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; 25(14):2420-7. PubMed ID: 20687191
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 25385508
[TBL] [Abstract][Full Text] [Related]
16.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
17.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
18.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]