Associated Papers
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis.
Mahdieh N et al.
Clinical Neurology and Neurosurgery, 2018
Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.
Masri A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2014
GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening.
Kaya N et al.
American Journal of Medical Genetics. Part A, 2011
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