BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

177 related articles for article (PubMed ID: 25231164)

  • 21. Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain.
    Sengel C; Gavarini S; Sharma N; Ozelius LJ; Bragg DC
    J Neurochem; 2011 Sep; 118(6):1087-100. PubMed ID: 21752024
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. 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]  

  • 24. 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]  

  • 25. 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; 74(10):846-50. PubMed ID: 20211909
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. 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]  

  • 28. 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]  

  • 29. 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]  

  • 30. 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; 27(10):1290-4. PubMed ID: 22903657
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions.
    Golanska E; Gajos A; Sieruta M; Szybka M; Rudzinska M; Ochudlo S; Kmiec T; Liberski PP; Bogucki A
    PLoS One; 2015; 10(6):e0129656. PubMed ID: 26087139
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
    Fuchs T; Gavarini S; Saunders-Pullman R; Raymond D; Ehrlich ME; Bressman SB; Ozelius LJ
    Nat Genet; 2009 Mar; 41(3):286-8. PubMed ID: 19182804
    [TBL] [Abstract][Full Text] [Related]  

  • 34. New THAP1 mutation and role of putative modifier in TOR1A.
    Piovesana LG; Torres FR; Azevedo PC; Amaral TP; Lopes-Cendes I; D'Abreu A
    Acta Neurol Scand; 2017 Feb; 135(2):183-188. PubMed ID: 26940431
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. 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]  

  • 37. Towards the classification of DYT6 dystonia mutants in the DNA-binding domain of THAP1.
    Campagne S; Muller I; Milon A; Gervais V
    Nucleic Acids Res; 2012 Oct; 40(19):9927-40. PubMed ID: 22844099
    [TBL] [Abstract][Full Text] [Related]  

  • 38. The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage.
    Yellajoshyula D; Liang CC; Pappas SS; Penati S; Yang A; Mecano R; Kumaran R; Jou S; Cookson MR; Dauer WT
    Dev Cell; 2017 Jul; 42(1):52-67.e4. PubMed ID: 28697333
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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; 309(1-2):63-7. PubMed ID: 21839475
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Genetic screening of THAP1 in primary dystonia patients of India.
    Giri S; Naiya T; Equbal Z; Sankhla CS; Das SK; Ray K; Ray J
    Neurosci Lett; 2017 Jan; 637():31-37. PubMed ID: 27913194
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.