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Titel:

Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing.

Dokumenttyp:
Journal Article; Review; Research Support, Non-U.S. Gov't
Autor(en):
Dzinovic, Ivana; Winkelmann, Juliane; Zech, Michael
Abstract:
Animal and human brain-imaging studies have suggested a role for neurodevelopmental abnormalities in the pathophysiology of dystonia. Variants in neurodevelopmental genes have also been sporadically implicated, although no systematic investigation has been undertaken before the more widespread availability of genome-wide sequencing techniques. Here, we review findings from recent whole-exome and whole-genome sequencing approaches in individuals with dystonic conditions, indicating that more than...     »
Zeitschriftentitel:
Parkinsonism Relat Disord
Jahr:
2022
Band / Volume:
102
Seitenangaben Beitrag:
131-140
Volltext / DOI:
doi:10.1016/j.parkreldis.2022.08.019
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/36088199
Print-ISSN:
1353-8020
TUM Einrichtung:
Lehrstuhl für Neurogenetik (N.N.)
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