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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

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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… Expand
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Review
2013
Review
2013
Although all forms of dystonia share the core clinical features of involuntary dystonic dyskinesia, there is not only marked… Expand
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Review
2011
Review
2011
Primary dystonia has traditionally been viewed as a basal ganglia disorder, but recent studies suggest that the cerebellum plays… Expand
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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… Expand
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Highly Cited
2010
Highly Cited
2010
THAP1 is a sequence-specific DNA binding factor that regulates cell proliferation through modulation of target genes such as the… Expand
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Highly Cited
2010
Highly Cited
2010
Mutations in THAP1, a gene encoding a nuclear pro-apoptotic protein, have been associated with DYT6 dystonia. First reports on… Expand
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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… Expand
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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… Expand
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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… Expand
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2007
2007
The DYT6 gene for primary torsion dystonia (PTD) was mapped to chromosome 8p21-q22 in two Amish-Mennonite families who shared a… Expand
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