标题
THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations
作者
关键词
-
出版物
MOVEMENT DISORDERS
Volume 27, Issue 10, Pages 1290-1294
出版商
Wiley
发表日期
2012-08-17
DOI
10.1002/mds.25146
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Identification and functional analysis of novel THAP1 mutations
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- DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene
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- THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression
- (2011) Fu Bo Cheng et al. JOURNAL OF NEUROLOGY
- Truncating mutations in THAP1 define the nuclear localization signal
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- Homozygous THAP1 mutations as cause of early-onset generalized dystonia
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- An African–American family with dystonia
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- Direct interaction between causative genes of DYT1 and DYT6 primary dystonia
- (2010) Sophie Gavarini et al. ANNALS OF NEUROLOGY
- A molecular link between dystonia 1 and dystonia 6?
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- The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)
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- Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China
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- The epidemiology of primary dystonia: current evidence and perspectives
- (2010) G. Defazio EUROPEAN JOURNAL OF NEUROLOGY
- Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations
- (2010) Sarah E. Flanagan et al. Genetic Testing and Molecular Biomarkers
- Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia
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- Prevalence of THAP1 sequence variants in German patients with primary dystonia
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- Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion
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- Adult-onset leg dystonia due to a missense mutation in THAP1
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- Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype
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- Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study
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- Transcriptional dysregulation: a cause of dystonia?
- (2009) Gen Tamiya LANCET NEUROLOGY
- Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia
- (2009) Coro Paisán-Ruiz et al. MOVEMENT DISORDERS
- TheTOR1Apolymorphism rs1182 and the risk of spread in primary blepharospasm
- (2009) Giovanni Defazio et al. MOVEMENT DISORDERS
- Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
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- Human Splicing Finder: an online bioinformatics tool to predict splicing signals
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- DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA
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- A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22–q13.12
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