DYT 6-A Novel THAP1 Mutation With Excellent Effect on Pallidal DBS
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F11%3A9805" target="_blank" >RIV/00216208:11110/11:9805 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/11:00052318 RIV/00216208:11130/11:7014 RIV/00064203:_____/11:7014 RIV/00064165:_____/11:9805
Result on the web
<a href="http://dx.doi.org/10.1002/mds.23599" target="_blank" >http://dx.doi.org/10.1002/mds.23599</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
DYT 6-A Novel THAP1 Mutation With Excellent Effect on Pallidal DBS
Original language description
The authors describe a novel mutation of THAP1 gene in 2 siblings (a boy and girl) with a rapid generalization into a life-threatening status dystonicus (SD) in the boy.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FH - Neurology, neuro-surgery, nuero-sciences
OECD FORD branch
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Result continuities
Project
<a href="/en/project/GA309%2F09%2F1145" target="_blank" >GA309/09/1145: Mechanisms of deep brain stimulation: Role of the subthalamus in motor, visual and affective processing</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
2011
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Movement Disorders
ISSN
0885-3185
e-ISSN
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Volume of the periodical
26
Issue of the periodical within the volume
5
Country of publishing house
US - UNITED STATES
Number of pages
2
Pages from-to
924-925
UT code for WoS article
000290445400060
EID of the result in the Scopus database
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