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Dystonia 3, Torsion, X-Linked

Known as: Torsion Dystonia-Parkinsonism, Filipino Type, X-Linked Dystonia Parkinsonism, DYSTONIA-PARKINSONISM, X-LINKED 
An X-linked recessive inherited movement disorder caused by mutations in and near the TAF1 gene. It is found only in people of Filipino descent. It… 
National Institutes of Health

Related topics

Related topics

8 relations
Central Nervous SystemChoreaDystonia Musculorum DeformansMyoclonus

Broader (2)

Dystonia DisordersGenetic Diseases, X-Linked

Papers overview

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Highly Cited
2008
Highly Cited
2008
[123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia–parkinsonism
2006
2006
Sporadic rapid‐onset dystonia–parkinsonism presenting as Parkinson's disease
We report on a 38‐year‐old patient with rapid‐onset dystonia–parkinsonism (RDP) with a missense mutation in the Na/K‐ATPase α3… 
2005
2005
Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family
Rapid onset dystonia-parkinsonism (RDP) is a rare movement disorder with autosomal dominant inheritance, characterised by sudden… 
2004
2004
Rapid‐onset dystonia–parkinsonism: A fourth family consistent with linkage to chromosome 19q13
Rapid‐onset dystonia–parkinsonism (RDP, DYT12, MIM 128235) is a rare autosomal dominant movement disorder characterized by abrupt… 
Highly Cited
1999
Highly Cited
1999
PET imaging of the pre‐synaptic dopamine uptake sites in rapid‐onset dystonia‐parkinsonism (RDP)
Rapid‐onset dystonia‐parkinsonism (RDP) is a genetic movement disorder characterized by abrupt onset over hours to days of… 
1996
1996
Determination of plasma soluble fibrin using a new ELISA method in patients with disseminated intravascular coagulation
We measured plasma levels of soluble fibrin (SF) in 98 patients suspected of having disseminated intravascular coagulation (DIC… 
Highly Cited
1993
Highly Cited
1993
Positron emission tomographic findings in Filipino X‐linked dystonia–parkinsonism
Regional and global metabolic rates for glucose (rCMRGlc and GMR) were estimated using [18F]fluorodeoxyglucose and positron… 
1992
1992
Dystonia-parkinsonism syndrome (XDP) locus: flanking markers in Xq12-q21.1.
The study of rare genetic forms of dystonia and parkinsonism permits positional cloning of genes potentially involved in more… 
Highly Cited
1985
Highly Cited
1985
Serum crosslinked fibrin (XDP) and fibrinogen/fibrin degradation products (FDP) in disorders associated with activation of the coagulation or fibrinolytic systems
Soluble crosslinked fibrin derivatives (XDP) in serum were determined by enzyme immunoassay utilizing monoclonal antibodies and… 
Highly Cited
1972
Highly Cited
1972
Human phosphoribosylpyrophosphate synthetase. Kinetic mechanism and end product inhibition.
Abstract Human PP-ribose-P synthetase, partially purified from erythrocytes, was found to have Michaelis constants for ribose-5-P… 
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