Early onset torsion dystonia

Known as: Dystonia 1, Torsion, Autosomal Dominant, Early Onset Primary Dystonia, Early-Onset Torsion Dystonia 
A genetic disorder that usually presents in early childhood and is characterized by muscle contractions in a foot, leg, or arm that gradually spreads… (More)
National Institutes of Health

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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2010
2010
Early-onset torsion dystonia is the most severe heritable form of dystonia, a human movement disorder that typically starts… (More)
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2010
2010
TorsinA is a member of the AAA+ ATPase family of proteins and, notably, is the only known ATPase localized to the ER lumen. It… (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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Review
2006
Review
2006
  • C Kamm
  • Orphanet journal of rare diseases
  • 2006
Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle… (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
2005
Highly Cited
2005
A trinucleotide deletion of GAG in the DYT1 gene that encodes torsinA protein is implicated in the neurological movement disorder… (More)
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Highly Cited
2000
Highly Cited
2000
Early-onset torsion dystonia is a hereditary movement disorder thought to be caused by decreased release of dopamine into the… (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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