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
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL2
A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease).
Wang P et al.
Bmc Veterinary Research, 2018
Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers.
Kazemi N et al.
Gene, 2018
Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.
Raza MH et al.
European Journal of Human Genetics : Ejhg, 2016
Genetic approaches to understanding the causes of stuttering.
Drayna D et al.
Journal of Neurodevelopmental Disorders, 2011
Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.
Kang C et al.
The New England Journal of Medicine, 2010
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