Associated Papers
Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.
Pascual A et al.
International Journal of Molecular Sciences, 2025
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs
A mutational atlas for Parkin proteostasis.
Clausen L et al.
Nature Communications, 2024
38378758 (PubMed )
Supplement: 41467_2024_45829_MOESM1_ESM.pdf
The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.
Yi W et al.
Human Molecular Genetics, 2019
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