Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F24%3A10482961" target="_blank" >RIV/00064165:_____/24:10482961 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/24:10482961
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=_adoXCr5mj" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=_adoXCr5mj</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s00415-024-12447-5" target="_blank" >10.1007/s00415-024-12447-5</a>
Alternative languages
Result language
angličtina
Original language name
Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients
Original language description
Herein, we explored the contribution of nuclear-encoded mitochondrial disease gene defects to dystonia from a cohort-level perspective. The study analyzed two large collections of individuals who underwent whole exome sequencing (WES) for the indications of (i) dystonia and (ii) clinically suspected mitochondrial disease. The aim of this study was to define (1) the frequency of mitochondrial disease gene defects in cases ascertained for dystonia, (2) the prevalence of dystonia as a clinical feature in patients with genetically diagnosed mitochondrial disease, and (3) whether specific molecular pathways related to mitochondrial dysfunction are more often perturbed in each of these settings.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
<a href="/en/project/LX22NPO5107" target="_blank" >LX22NPO5107: National institute for Neurological Research</a><br>
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Neurology
ISSN
0340-5354
e-ISSN
1432-1459
Volume of the periodical
271
Issue of the periodical within the volume
7
Country of publishing house
DE - GERMANY
Number of pages
8
Pages from-to
4685-4692
UT code for WoS article
001229316100003
EID of the result in the Scopus database
2-s2.0-85193978911