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Dystonia 3, Torsion, X-Linked
Known as:
Torsion Dystonia-Parkinsonism, Filipino Type
, X-Linked Dystonia Parkinsonism
, DYSTONIA-PARKINSONISM, X-LINKED
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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…
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National Institutes of Health
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Related topics
Related topics
8 relations
Central Nervous System
Chorea
Dystonia Musculorum Deformans
Myoclonus
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Broader (2)
Dystonia Disorders
Genetic Diseases, X-Linked
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
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
P. Zanotti-Fregonara
,
M. Vidailhet
,
+6 authors
E. Roze
Journal of Neurological Sciences
2008
Corpus ID: 2004903
2006
2006
Sporadic rapid‐onset dystonia–parkinsonism presenting as Parkinson's disease
D. J. Kamphuis
,
H. Koelman
,
A. Lees
,
M. Tijssen
Movement Disorders
2006
Corpus ID: 8883270
We report on a 38‐year‐old patient with rapid‐onset dystonia–parkinsonism (RDP) with a missense mutation in the Na/K‐ATPase α3…
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2005
2005
Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family
K. Kabakci
,
K. Isbruch
,
+6 authors
C. Klein
Journal of Neurology Neurosurgery & Psychiatry
2005
Corpus ID: 20434117
Rapid onset dystonia-parkinsonism (RDP) is a rare movement disorder with autosomal dominant inheritance, characterised by sudden…
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2004
2004
Rapid‐onset dystonia–parkinsonism: A fourth family consistent with linkage to chromosome 19q13
J. Zaremba
,
H. Mierzewska
,
Zofia Lysiak
,
P. Kramer
,
L. Ozelius
,
A. Brashear
Movement Disorders
2004
Corpus ID: 8404708
Rapid‐onset dystonia–parkinsonism (RDP, DYT12, MIM 128235) is a rare autosomal dominant movement disorder characterized by abrupt…
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Highly Cited
1999
Highly Cited
1999
PET imaging of the pre‐synaptic dopamine uptake sites in rapid‐onset dystonia‐parkinsonism (RDP)
A. Brashear
,
G. Mulholland
,
Q. Zheng
,
M. Farlow
,
E. Siemers
,
G. Hutchins
Movement Disorders
1999
Corpus ID: 18415580
Rapid‐onset dystonia‐parkinsonism (RDP) is a genetic movement disorder characterized by abrupt onset over hours to days of…
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1996
1996
Determination of plasma soluble fibrin using a new ELISA method in patients with disseminated intravascular coagulation
K. Okajima
,
M. Uchiba
,
K. Murakami
,
H. Okabe
,
K. Takatsuki
American journal of hematology/oncology
1996
Corpus ID: 8887615
We measured plasma levels of soluble fibrin (SF) in 98 patients suspected of having disseminated intravascular coagulation (DIC…
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Highly Cited
1993
Highly Cited
1993
Positron emission tomographic findings in Filipino X‐linked dystonia–parkinsonism
MD D. Eidelberg
,
MD S. Takikawa
,
+9 authors
MDi Fahn
Annals of Neurology
1993
Corpus ID: 44448781
Regional and global metabolic rates for glucose (rCMRGlc and GMR) were estimated using [18F]fluorodeoxyglucose and positron…
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1992
1992
Dystonia-parkinsonism syndrome (XDP) locus: flanking markers in Xq12-q21.1.
K. Kupke
,
Manuel B. Graeber
,
Ulrich Muller
American Journal of Human Genetics
1992
Corpus ID: 1213272
The study of rare genetic forms of dystonia and parkinsonism permits positional cloning of genes potentially involved in more…
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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
Frederick A. Hunt
,
D. Rylatt
,
Rosemary‐Anne H art
,
P. Bundesen
British Journal of Haematology
1985
Corpus ID: 46530335
Soluble crosslinked fibrin derivatives (XDP) in serum were determined by enzyme immunoassay utilizing monoclonal antibodies and…
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Highly Cited
1972
Highly Cited
1972
Human phosphoribosylpyrophosphate synthetase. Kinetic mechanism and end product inhibition.
I. Fox
,
W. Kelley
Journal of Biological Chemistry
1972
Corpus ID: 33780968
Abstract Human PP-ribose-P synthetase, partially purified from erythrocytes, was found to have Michaelis constants for ribose-5-P…
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