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

Topic mentions per year

Topic mentions per year

1997-2017
051019972017

Papers overview

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Highly Cited
2013
Highly Cited
2013
Dystonia is a movement disorder characterized by repetitive twisting muscle contractions and postures. Its molecular… (More)
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Highly Cited
2011
Highly Cited
2011
OBJECTIVES to provide a revised version of earlier guidelines published in 2006. BACKGROUND primary dystonias are chronic and… (More)
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2010
2010
BACKGROUND The clinical phenotype of DYT6 consists mainly of primary craniocervical dystonia. Recently, the THAP1 gene was… (More)
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Highly Cited
2010
Highly Cited
2010
BACKGROUND THAP1 encodes a transcription factor (THAP1) that harbors an atypical zinc finger domain and regulates cell… (More)
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2010
2010
Primary dystonia is a movement disorder characterized by sustained muscle contractions and in which dystonia is the only or… (More)
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Highly Cited
2009
Highly Cited
2009
We report the discovery of a mutation in the THAP1 gene in three Amish-Mennonite families with mixed-onset primary torsion… (More)
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Highly Cited
2009
Highly Cited
2009
BACKGROUND Mutations in THAP1 were recently identified as the cause of DYT6 primary dystonia; a founder mutation was detected in… (More)
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Highly Cited
2009
Highly Cited
2009
BACKGROUND DYT6 is a primary, early-onset torsion dystonia; however, unlike in DYT1 dystonia, the symptoms of DYT6 dystonia… (More)
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1999
1999
A GAG deletion in the DYT1 gene accounts for most early, limb onset primary torsion dystonia (PTD). The genetic bases for the… (More)
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Highly Cited
1997
Highly Cited
1997
The DYT1 locus on chromosome 9q34 is responsible for most childhood limb-onset idiopathic torsion dystonia (ITD). Linkage to DYT1… (More)
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