Associated Papers
Serum Proteomics Reveals Diagnostic Biomarkers and Molecular Pathways in Cerebral Palsy.
Xu Y et al.
Nature Communications, 2025
Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China.
Wang X et al.
Genome Medicine, 2025
Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years.
Hwang N et al.
Clinical Genetics, 2024
Genetic Screening in Korean Patients with Frontotemporal Dementia Syndrome.
Kim EJ et al.
Journal of Alzheimer's Disease Reports, 2022
Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease.
D TK et al.
Journal of Biomolecular Structure & Dynamics, 2021
Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.
Chen YP et al.
Journal of Parkinson's Disease, 2021
34250953 (PubMed )
Supplement: sj-xlsx-2-pkn-10.3233_jpd-212658.xlsx › Sheet1
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
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
Screening for Krabbe disease: The first 2 years' experience.
Pannuzzo G et al.
Acta Neurologica Scandinavica, 2019
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