SOXopathies and dystonia: Consolidation of a recurrent association

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F24%3A10475650" target="_blank" >RIV/00064165:_____/24:10475650 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/24:10475650
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=xUVnt_QK6Y" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=xUVnt_QK6Y</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.parkreldis.2023.105960" target="_blank" >10.1016/j.parkreldis.2023.105960</a>

Result language
angličtina
Original language name
SOXopathies and dystonia: Consolidation of a recurrent association
Original language description
The genetic background of dystonia is extremely heterogeneous. The introduction of whole exome sequencing (WES) unveiled substantial overlaps with the genetic landscape of several other neurological disorders. Recent large-scale WES studies highlighted that especially variants in neurodevelopmental disorders (NDDs) related genes may present with dystonia. Enrichment of chromatin regulators, transcription factors, and translation initiators in the genetic landscape of NDDs-associated dystonias points to a disrupted gene expression control as shared pathogenic motif.
Czech name
—
Czech description
—

Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30103 - Neurosciences (including psychophysiology)

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

Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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