BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

289 related articles for article (PubMed ID: 22377579)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.
    Cheng FB; Ozelius LJ; Wan XH; Feng JC; Ma LY; Yang YM; Wang L
    J Neurol; 2012 Feb; 259(2):342-7. PubMed ID: 21800139
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Identification and functional analysis of novel THAP1 mutations.
    Lohmann K; Uflacker N; Erogullari A; Lohnau T; Winkler S; Dendorfer A; Schneider SA; Osmanovic A; Svetel M; Ferbert A; Zittel S; Kühn AA; Schmidt A; Altenmüller E; Münchau A; Kamm C; Wittstock M; Kupsch A; Moro E; Volkmann J; Kostic V; Kaiser FJ; Klein C; Brüggemann N
    Eur J Hum Genet; 2012 Feb; 20(2):171-5. PubMed ID: 21847143
    [TBL] [Abstract][Full Text] [Related]  

  • 14. An African-American family with dystonia.
    Puschmann A; Xiao J; Bastian RW; Searcy JA; LeDoux MS; Wszolek ZK
    Parkinsonism Relat Disord; 2011 Aug; 17(7):547-50. PubMed ID: 21601506
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. The c.-237_236GA>TT THAP1 sequence variant does not increase risk for 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; Blitzer A; Rudzińska M; Pfeiffer RF; Le C; LeDoux MS
    Mov Disord; 2011 Feb; 26(3):549-52. PubMed ID: 21370264
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 15.