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Title:

Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia).

Document type:
Journal Article
Author(s):
Jochim, Angela; Li, Yong; Zech, Michael; Lam, Daniel; Gross, Nadine; Koch, Kathrin; Zimmer, Claus; Winkelmann, Juliane; Haslinger, Bernhard
Abstract:
INTRODUCTION: Recently, mutations in the collagen gene COL6A3 have been reported in patients with autosomal-recessive, isolated dystonia (DYT27). Zebrafish models of COL6A3 mutations showed deficits in axonal targeting mechanisms. Therefore, COL6A3 mutations have been considered to contribute to irregular sensorimotor circuit formation. To test this hypothesis, we examined structural abnormalities in cerebral fiber tracts of dystonia patients with COL6A3 mutations using diffusion tensor imaging....     »
Journal title abbreviation:
Parkinsonism Relat Disord
Year:
2018
Journal volume:
46
Pages contribution:
74-78
Language:
eng
Fulltext / DOI:
doi:10.1016/j.parkreldis.2017.10.008
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/29066004
Print-ISSN:
1353-8020
TUM Institution:
Fachgebiet Neuroradiologie (Prof. Zimmer); Institut für Humangenetik; Lehrstuhl für Neurogenetik (Prof. Winkelmann); Neurologische Klinik und Poliklinik
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