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Title:

Dystonia genes and their biological pathways.

Document type:
Journal Article
Author(s):
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...     »
Journal title abbreviation:
Int Rev Neurobiol
Year:
2023
Journal volume:
169
Pages contribution:
61-103
Fulltext / DOI:
doi:10.1016/bs.irn.2023.04.009
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/37482402
Print-ISSN:
0074-7742
TUM Institution:
Institut für Humangenetik (Prof. Winkelmann)
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