A novel MAPT variant (E342K) as a cause of familial progressive supranuclear palsy
Article in Frontiers in Neurology (April 2024)
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Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease
Article in Nature Genetics (April 2024)
GRN mutation spectrum and genotype-phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort.
Article in Journal of Medical Genetics (January 2024)