Han Chinese family with early‐onset Parkinson's disease carries novel compound heterozygous mutations in the PARK2 gene
Author:
Affiliation:
1. Department of Neurology, Nanjing First Hospital Nanjing Medical University Nanjing China
2. Department of Endocrine and Metabolic Diseases, The First People's Hospital of Hefei Anhui Medical University Hefei China
Funder
Major scientific and technological items of clinical medicine, Jiangsu Province
Publisher
Wiley
Subject
Behavioral Neuroscience
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/brb3.1372
Reference36 articles.
1. The Genomic Structure and Promoter Region of the Human Parkin Gene
2. Molecular pathways in dystonia
3. Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil
4. ATXN2 polyQ intermediate repeats are a modifier of ALS survival
5. What Genetics Tells us About the Causes and Mechanisms of Parkinson's Disease
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1. The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson’s disease in mainland China;npj Parkinson's Disease;2023-05-17
2. PRKRA-related Dystonia: A Summary of Previously Reported Cases;2022-09-14
3. Correlation between serum renin-angiotensin system (RAS) level and depression and anxiety symptoms in patients with Parkinson's disease;Saudi Journal of Biological Sciences;2021-04
4. A Han Chinese Family With Early-Onset Parkinson's Disease Carrying Novel Frameshift Mutation and Compound Heterozygous Mutation of PRKN Appearing Incompatible With MDS Clinical Diagnostic Criteria;Frontiers in Neurology;2020-10-09
5. Parkin is the most common causative gene in a cohort of mainland Chinese patients with sporadic early‐onset Parkinson's disease;Brain and Behavior;2020-07-16
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