116 related articles for article (PubMed ID: 19345148)
1. 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]
2. 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]
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. 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]
5. Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Thomsen M; Marth K; Loens S; Everding J; Junker J; Borngräber F; Ott F; Jesús S; Gelderblom M; Odorfer T; Kuhlenbäumer G; Kim HJ; Schaeffer E; Becktepe J; Kasten M; Brüggemann N; Pfister R; Kollewe K; Krauss JK; Lohmann E; Hinrichs F; Berg D; Jeon B; Busch H; Altenmüller E; Mir P; Kamm C; Volkmann J; Zittel S; Ferbert A; Zeuner KE; Rolfs A; Bauer P; Kühn AA; Bäumer T; Klein C; Lohmann K
Mov Disord; 2024 Mar; 39(3):526-538. PubMed ID: 38214203
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Pathogenic variants in TUBB4A are not found in primary dystonia.
Vemula SR; Xiao J; Bastian RW; Momčilović D; Blitzer A; LeDoux MS
Neurology; 2014 Apr; 82(14):1227-30. PubMed ID: 24598712
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Incidence and risk factors for secondary extralaryngeal dystonia in patients with laryngeal dystonia.
Dupuch G; Mailly M; Guillaume J; Daval M; Ayache D; Brasnu D
Am J Otolaryngol; 2024; 45(1):104090. PubMed ID: 37865985
[TBL] [Abstract][Full Text] [Related]
12.
Agarwal A; Garg D; Rajan R; Garg A; Srivastava AK
Mov Disord Clin Pract; 2023 Dec; 10(12):1815-1817. PubMed ID: 38094642
[No Abstract] [Full Text] [Related]
13. Pure Parkinsonism as Possible Phenotype Expansion of THAP1-Related Disorders.
Ambrosini E; Cancilla R; Paul JJ; Bauer P; Garavaglia B; Barili V; Percesepe A; Negrotti A
Mov Disord; 2024 Feb; ():. PubMed ID: 38358056
[No Abstract] [Full Text] [Related]
14. Late-onset parkinsonism in a patient with a novel frameshift THAP1 variant.
Courtin E; Poblete NH; Clot F; Guehl D; Burbaud P
Parkinsonism Relat Disord; 2023 Oct; ():105900. PubMed ID: 37945392
[No Abstract] [Full Text] [Related]
15. 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]
16. 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]
17. GPi DBS treatment outcome in children with monogenic dystonia: a case series and review of the literature.
Chudy D; Raguž M; Vuletić V; Rački V; Papić E; Nenadić Baranašić N; Barišić N
Front Neurol; 2023; 14():1151900. PubMed ID: 37168666
[TBL] [Abstract][Full Text] [Related]
18. Dystonia Diagnosis: Clinical Neurophysiology and Genetics.
di Biase L; Di Santo A; Caminiti ML; Pecoraro PM; Carbone SP; Di Lazzaro V
J Clin Med; 2022 Jul; 11(14):. PubMed ID: 35887948
[TBL] [Abstract][Full Text] [Related]
19. The Patho-Neurophysiological Basis and Treatment of Focal Laryngeal Dystonia: A Narrative Review and Two Case Reports Applying TMS over the Laryngeal Motor Cortex.
Rogić Vidaković M; Gunjača I; Bukić J; Košta V; Šoda J; Konstantinović I; Bošković B; Bilić I; Režić Mužinić N
J Clin Med; 2022 Jun; 11(12):. PubMed ID: 35743523
[TBL] [Abstract][Full Text] [Related]
20. Long-Term Efficacy of Pallidal Deep Brain Stimulation in a Patient with DYT-THAP1 (DYT-6) Dystonia from India.
Sankhla CS; Sankhe M; Ray J
Ann Indian Acad Neurol; 2022; 25(2):314-316. PubMed ID: 35693669
[No Abstract] [Full Text] [Related]
[Next] [New Search]
