Levodopa responsive-generalized dystonic spells and moaning in DNAJC6 related Juvenile Parkinson’s disease
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Geriatrics and Gerontology,Neurology
Reference6 articles.
1. New genes causing hereditary Parkinson's disease or parkinsonism;Puschmann;Curr. Neurol. Neurosci. Rep.,2017
2. A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism;Edvardson;PloS One,2012
3. DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability;Koroglu;Park. Relat. Disord.,2013
4. A novel nonsense mutation in DNAJC6 expands the phenotype of autosomal-recessive juvenile-onset Parkinson's disease;Elsayed;Ann. Neurol.,2016
5. DNAJC6 mutations disrupt dopamine homeostasis in juvenile parkinsonism-dystonia;Ng;Mov. Disord.,2020
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