Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1
Article in International Journal of Molecular Sciences (April 2024)
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Integrative human and murine multi-omics: Highlighting shared biomarkers in the neuronal ceroid lipofuscinoses
Article in Neurobiology of Disease (November 2023)
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
Article in npj Genomic Medicine (August 2023)