Author

Na-Ye-On Jung

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Open access Oct 2026

Generation of a human induced pluripotent stem cell line (PNUYHi004-A) from a patient with hereditary spastic paraplegia type 46 (SPG46) carrying compound heterozygous GBA2 variants.

SPG46 is a rare autosomal recessive form of hereditary spastic paraplegia (HSP) caused by biallelic pathogenic variants in GBA2, encoding the non-lysosomal glucosylceramidase. We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a 40-year-old Korean patient with adult-ons...

Tae-Yun Kim, Nayeon Lee, Na-Ye-On Jung et al. · Stem Cell Research · 0 citations

Jul 2026

Blood-based multimodal biomarker models for differentiating early-onset Alzheimer’s disease from frontotemporal dementia: a longitudinal study of early-onset dementia and family members (LEAF) study

Plasma p-tau217 and p-tau181 are effective biomarkers for distinguishing biologically defined EOAD from EOFTD and adding NfL, GFAP, and APOE ε4 status further improves the discriminative accuracy for differentiating EOAD from EOFTD.

H. S. Kwon, So Young Moon, Mina Hwang et al. · Journal of Neurology · 0 citations