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
41096722 (PubMed )
Supplement: ijms-26-09454-s001.zip › ijms-3869459-supplementary.pdf
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
35330074 (PubMed )
Supplement: jcm-11-01749-s001.zip › Supl_Table_S1.pdf
Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.
Jiang Q et al.
American Journal of Human Genetics, 2015
Mutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish Hirschsprung patients.
Luzón-Toro B et al.
Plos One, 2013
Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer.
Jiang Q et al.
Human Mutation, 2012
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