High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia
Article in Nature Communications (January 2024)
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Estimating mortality in rare diseases using a population-based registry, 2002 through 2019
Article in Orphanet Journal of Rare Diseases (November 2023)
Diagnosis, treatment, and research status of rare diseases related to birth defects
Article in Intractable & Rare Diseases Research (August 2023)