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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

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2019
Highly Cited
2019
Reducing Latency in Virtual Machines: Enabling Tactile Internet for Human-Machine Co-Working
Software-defined networking (SDN) and network function virtualization (NFV) processed in multi-access edge computing (MEC) cloud… 
Highly Cited
2010
Highly Cited
2010
Catalytic Function of PLA2G6 Is Impaired by Mutations Associated with Infantile Neuroaxonal Dystrophy but Not Dystonia-Parkinsonism
Background Mutations in the PLA2G6 gene have been identified in autosomal recessive neurodegenerative diseases classified as… 
Highly Cited
2009
Highly Cited
2009
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.
Genetic variants of the SLC6A3 gene that encodes the human dopamine transporter (DAT) have been linked to a variety of… 
Highly Cited
2005
Highly Cited
2005
Functional anatomy of the basal ganglia in X‐linked recessive dystonia‐parkinsonism
Dystonia is a neurological syndrome characterized by sustained muscle contractions that produce repetitive twisting movements or… 
Highly Cited
2004
Highly Cited
2004
Phenotypic and molecular analyses of X-linked dystonia-parkinsonism ("lubag") in women.
BACKGROUND X-linked dystonia-parkinsonism (XDP) or "lubag" is an X-linked recessive disorder that afflicts Filipino men, and… 
Highly Cited
1998
Highly Cited
1998
Evidence for a Symmetrical Requirement for Rab5-GTP in in Vitro Endosome-Endosome Fusion*
Early endosome fusion, which has been extensively characterized using an in vitro reconstitution assay, is Rab5-dependent. To… 
Highly Cited
1993
Highly Cited
1993
Neuropathology of lubag (x‐linked dystonia parkinsonism)
Lubag is an x‐linked recessive dystonia parkinsonism that affects Filipino men originating principally from the Panay Island… 
Highly Cited
1989
Highly Cited
1989
Hemostatic markers in acute stroke.
To assess the time course of thrombosis and fibrinolysis after acute stroke, we measured concentrations of fibrinopeptide A (FpA… 
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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