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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…
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National Institutes of Health
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Related topics
Related topics
16 relations
Autosomal dominant inheritance
Blepharospasm
Central Nervous System
Dysarthria
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Broader (1)
Dystonia Musculorum Deformans
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Targets for treatment of dystonia caused by several etiologies . Meta analysis
A. Moura
,
P. Aguiar
,
+8 authors
Samuel Simis
2017
Corpus ID: 166225400
Introduction: To use a meta-analysis on all reported cases of deep brain stimulation (DBS) for dystonia to reevaluate the good…
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2016
2016
МЕЖСЕМЕЙНЫЙ ПОЛИМОРФИЗМ ДИСТОНИИ ПЕРВОГО ТИПА
К. А. Остапчук
,
Сергей Владиславович Котов
,
О. П. Сидорова
,
Александр Викторович Поляков
,
Н. М. Галеева
,
В. К. Мисиков
2016
Corpus ID: 78383844
Background: The most frequent mutation of the gene TOR1A (DYT1) (9q34), that causes type 1 dystonia (DOPA-unresponsive torsion…
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2012
2012
Spatial Discrimination Threshold Abnormalities are not Detected in a Pilot Study of DYT6 Dystonia Mutation Carriers
A. Deik
,
S. O'Riordan
,
+4 authors
R. Saunders-Pullman
Tremor and Other Hyperkinetic Movements
2012
Corpus ID: 12369151
Background Spatial discrimination thresholds (SDTs) assess somatosensory integration, and provide a window into better…
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2008
2008
Early-onset primary dystonia (DYT1)
امید آریانی
,
مسعود هوشمند
,
محمد حسین صنعتی
2008
Corpus ID: 74349584
2008
2008
GENETICS OF DYSTONIA
R. Saunders-Pullman
2008
Corpus ID: 86415296
Recent discoveries in dystonia genetics have led to greater ability to provide genetic testing, as well promise for better, more…
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2006
2006
Stiff child syndrome with mutation of DYT1 gene. Authors' reply
W. Cheshire
,
F. Birklein
,
M. Rowbotham
2006
Corpus ID: 77997829
2004
2004
Deleção GAG no gene DYT1: estudo de pacientes brasileiros com distonia de torção primária de início precoce
P. Aguiar
2004
Corpus ID: 80341888
2003
2003
The DYT1 Gene Mutation in Primary Torsion Dystonia without Familial Background
Chang Seon Lee
,
S. Chung
,
J. Im
,
Myoung-Chong Lee
,
H. Yoo
2003
Corpus ID: 74276301
Background : The DYT1 dystonia is primary torsion dystonia (PTD) caused by a GAG deletion in DYT1 gene on chromosome 9 and…
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2001
2001
The DYT1 mutation and nonfamilial primary torsion dystonia.
S. Bressman
,
S. Fahn
,
L. Ozelius
,
P. Kramer
,
N. Risch
Archives of Neurology
2001
Corpus ID: 44890112
2001
2001
Sporadic idiopathic cervical dystonia: exclusion of the DYT1 deletion
M. Sessa
,
Giuseppe Galardi
,
E. Agazzi
,
G. Casari
,
and the Italian Movement Disorder Study Group
Journal of Neurology
2001
Corpus ID: 11349246
Sirs: Primary torsion dystonia (PTD) represents the most common form of hereditary primary dystonia. Early-onset forms, inherited…
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