DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT

Known as: Autosomal Dominant Torsion Dystonia 1, DYSTONIA MUSCULORUM DEFORMANS 1, DYT1 
An autosomal dominant inherited disorder caused by mutations in the TOR1A gene. It usually begins in childhood or adolescence and is characterized by… (More)

Topic mentions per year

Topic mentions per year

1990-2018
0204019902018

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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Highly Cited
2006
Highly Cited
2006
In flowering plants, male fertility depends on proper cell differentiation in the anther. However, relatively little is known… (More)
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Highly Cited
2005
Highly Cited
2005
An enigmatic feature of many genetic diseases is that mutations in widely expressed genes cause tissue-specific illness. One… (More)
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Highly Cited
2004
Highly Cited
2004
We describe the clinical features of 103 patients presenting with fixed dystonia and report the prospective assessment and… (More)
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Highly Cited
2004
Highly Cited
2004
Primary dystonia is a disease characterized by involuntary twisting movements caused by CNS dysfunction without underlying… (More)
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Highly Cited
2000
Highly Cited
2000
In seven selected patients with dystonia musculorum deformans-1 generalised dystonia (DYT1), continuous bilateral stimulation of… (More)
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Highly Cited
2000
Highly Cited
2000
Early-onset torsion dystonia is an autosomal dominant hyperkinetic movement disorder that has recently been linked to a 3-base… (More)
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Highly Cited
1998
Highly Cited
1998
Early-onset idiopathic torsion dystonia (ITD) is an autosomal dominant hyperkinetic movement disorder with incomplete penetrance… (More)
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Highly Cited
1997
Highly Cited
1997
Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood… (More)
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