These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

128 related articles for article (PubMed ID: 36205328)

  • 1. Homozygous THAP1 pathogenic variant causes early onset multifocal dystonia with severe oromandibular/laryngeal dysfunction.
    Bird MF; Myers KA
    Am J Med Genet A; 2023 Jan; 191(1):289-291. PubMed ID: 36205328
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Oromandibular and Laryngeal Dystonia Secondary to Dystonia 6 Due to THAP1 Variant in a Child.
    Gowda VK; Battina M; Srinivasan VM; Shivappa SK
    Indian J Pediatr; 2021 Jun; 88(6):596. PubMed ID: 33834364
    [No Abstract]   [Full Text] [Related]  

  • 10. Prevalence of THAP1 sequence variants in German patients with primary dystonia.
    Söhn AS; Glöckle N; Doetzer AD; Deuschl G; Felbor U; Topka HR; Schöls L; Riess O; Bauer P; Müller U; Grundmann K
    Mov Disord; 2010 Sep; 25(12):1982-6. PubMed ID: 20669277
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel THAP1 missense variant with incomplete penetrance in a case of generalized young onset dystonia showing good response to deep brain stimulation.
    Keller Sarmiento IJ; Fraint A; Kinsley L; Akhtar RS; Silani V; Lubbe SJ; Krainc D; Mencacci NE
    Parkinsonism Relat Disord; 2022 Dec; 105():7-8. PubMed ID: 36323131
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Homozygous THAP1 mutations as cause of early-onset generalized dystonia.
    Schneider SA; Ramirez A; Shafiee K; Kaiser FJ; Erogullari A; Brüggemann N; Winkler S; Bahman I; Osmanovic A; Shafa MA; Bhatia KP; Najmabadi H; Klein C; Lohmann K
    Mov Disord; 2011 Apr; 26(5):858-61. PubMed ID: 21425335
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia.
    Fujioka S; Strongosky AJ; Hassan A; Rademakers R; Dickson DW; Wszolek ZK
    Parkinsonism Relat Disord; 2015 Mar; 21(3):329-31. PubMed ID: 25609077
    [No Abstract]   [Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.
    Domingo A; Yadav R; Shah S; Hendriks WT; Erdin S; Gao D; O'Keefe K; Currall B; Gusella JF; Sharma N; Ozelius LJ; Ehrlich ME; Talkowski ME; Bragg DC
    Am J Hum Genet; 2021 Nov; 108(11):2145-2158. PubMed ID: 34672987
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.