Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia
Author:
Funder
Project 985
Publisher
Frontiers Media SA
Subject
Pediatrics, Perinatology, and Child Health
Reference49 articles.
1. Dopa-responsive dystonia: a syndrome of selective nigrostriatal dopamine deficiency;Jeon;Adv Neurol.,1998
2. Frequency of GCH1 deletions in Dopa-responsive dystonia;Zirn;J Neurol Neurosurg Psychiatry.,2008
3. Dopa-responsive dystonia;Nygaard;. Adv Neurol.,1993
4. Hereditary progressive dystonia with marked diurnal fluctuation;Segawa;Adv Neurol,1976
5. Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia;Nygaard;Ann Neurol.,1992
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