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Titel:

Dystonia genes and their biological pathways.

Dokumenttyp:
Journal Article
Autor(en):
Di Fonzo, Alessio; Jinnah, H A; Zech, Michael
Abstract:
High-throughput sequencing has been instrumental in uncovering the spectrum of pathogenic genetic alterations that contribute to the etiology of dystonia. Despite the immense heterogeneity in monogenic causes, studies performed during the past few years have highlighted that many rare deleterious variants associated with dystonic presentations affect genes that have roles in certain conserved pathways in neural physiology. These various gene mutations that appear to converge towards the disrupti...     »
Zeitschriftentitel:
Int Rev Neurobiol
Jahr:
2023
Band / Volume:
169
Seitenangaben Beitrag:
61-103
Volltext / DOI:
doi:10.1016/bs.irn.2023.04.009
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/37482402
Print-ISSN:
0074-7742
TUM Einrichtung:
Institut für Humangenetik (Prof. Winkelmann)
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