The clinical phenotype of early-onset isolated dystonia caused by recessiveCOL6A3mutations (DYT27)
Author:
Affiliation:
1. Department of Neurology; Klinikum rechts der Isar Technical University Munich; Munich Germany
2. Institute for Neurogenomics, Helmholtz Zentrum München; Munich Germany
3. Munich Cluster for Systems Neurology, SyNergy; Munich Germany
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Reference15 articles.
1. Phenomenology and classification of dystonia: a consensus update;Albanese;Mov Disord,2014
2. Recessive mutations in the a3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia;Zech;Am J Hum Genet,2015
3. Genetic and clinical features of primary torsion dystonia;Ozelius;Neurobiol Dis,2011
4. Genetics of dystonia: What's known? What's new?. What's next?;Lohmann;Mov Disord,2013
5. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study;Djarmati;Lancet Neurol,2009
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