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Titel:

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

Dokumenttyp:
Journal Article
Autor(en):
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....     »
Zeitschriftentitel:
Parkinsonism Relat Disord
Jahr:
2018
Band / Volume:
46
Seitenangaben Beitrag:
74-78
Sprache:
eng
Volltext / DOI:
doi:10.1016/j.parkreldis.2017.10.008
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/29066004
Print-ISSN:
1353-8020
TUM Einrichtung:
Fachgebiet Neuroradiologie (Prof. Zimmer); Institut für Humangenetik; Lehrstuhl für Neurogenetik (Prof. Winkelmann); Neurologische Klinik und Poliklinik
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