Rare homozygous PRKN exon 8 and 9 deletion in Malay familial early-onset Parkinson’s disease
Author:
Affiliation:
1. University of Malaya, Kuala Lumpur, Malaysia
Publisher
Academy of Medicine, Singapore
Subject
General Medicine
Reference10 articles.
1. Lim SY, Tan AH, Ahmad-Annuar A, et al. Parkinson’s disease in the Western Pacific Region. Lancet Neurol 2019;18:865-79.
2. de Lau LM, Breteler MM. Epidemiology of Parkinson’s disease. Lancet Neurol 2006;5:525-35.
3. Kasten M, Hartmann C, Hampf J, et al. Genotype-phenotype relations for the Parkinson’s disease genes Parkin, PINK1, DJ1: MDSGene systematic review. Mov Disord 2018;33:730-41.
4. Puschmann A. Monogenic Parkinson’s disease and parkinsonism: Clinical phenotypes and frequencies of known mutations. Parkinsonism Relat Disord 2013;19:407-15.
5. Lucking CB, Abbas N, Durr A, et al. Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson’s Disease and the French Parkinson’s Disease Genetics Study Group. Lancet 1998;352:1355-6.
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1. Genetic study of early-onset Parkinson's disease in the Malaysian population;Parkinsonism & Related Disorders;2023-06
2. Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson’s disease: mutational spectrum and clinical features;Journal of Neural Transmission;2021-11-15
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