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Dystonia 6, torsion (disorder)

Known as: TORSION DYSTONIA, ADULT-ONSET, MIXED TYPE, Dystonia 6, torsion, Torsion dystonia adult onset mixed type 
National Institutes of Health

Related topics

Related topics

11 relations
Abnormal facial muscle toneAutosomal dominant inheritanceDysarthriaDysphonia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2013
Review
2013
Genetics of dystonia: What's known? What's new? What's next?
Although all forms of dystonia share the core clinical features of involuntary dystonic dyskinesia, there is not only marked… 
Highly Cited
2012
Highly Cited
2012
Mutations in GNAL cause primary torsion dystonia
Dystonia is a movement disorder characterized by repetitive twisting muscle contractions and postures. Its molecular… 
Review
2012
Review
2012
THAP1 Mutations and Dystonia Phenotypes: Genotype Phenotype Correlations
THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene… 
Highly Cited
2012
Highly Cited
2012
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites
Objective: To compare the phenotype of primary-appearing dystonia due to variant ataxia-telangiectasia (A-T) with that of other… 
Review
2011
Review
2011
DYT6 dystonia: Review of the literature and creation of the UMD locus‐specific database (LSDB) for mutations in the THAP1 gene
By family‐based screening, first Fuchs and then many other authors showed that mutations in THAP1 (THAP [thanatos‐associated… 
Highly Cited
2011
Highly Cited
2011
Pallidal deep brain stimulation for DYT6 dystonia
Background Mutations of the THAP1 gene were recently shown to underlie DYT6 torsion dystonia. Little is known about the response… 
Highly Cited
2011
Highly Cited
2011
Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal
The designation, DYT4, was assigned to an Australian family with whispering dysphonia. The role of known causes of dystonia has… 
Highly Cited
2010
Highly Cited
2010
DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation
Mutations in THAP1, a gene encoding a nuclear pro‐apoptotic protein, have been associated with DYT6 dystonia. First reports on… 
Highly Cited
2010
Highly Cited
2010
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)
Mutations in THAP1 have been associated with dystonia 6. THAP1 encodes a transcription factor with mostly unknown targets. We… 
Highly Cited
2007
Highly Cited
2007
Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish–Mennonites
The DYT6 gene for primary torsion dystonia (PTD) was mapped to chromosome 8p21‐q22 in two Amish–Mennonite families who shared a… 
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