Author

Jong-Hee Chae

2 papers indexed here

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Review Open access Aug 2026

Anti-SRP immune-mediated necrotizing myopathy from childhood to adulthood: A case series highlighting rituximab-responsive disease

Objectives Anti-signal recognition particle (SRP) myositis is a rare subset of immune-mediated necrotizing myopathy (IMNM). It is characterized by proximal muscle weakness, markedly elevated serum creatine kinase (CK) levels, and poor response to conventional therapies. Evidence for optimal management remains limited,...

S. Ahn, Jee Min Kim, Han Lee et al. · Journal of Neuromuscular Dis... · 0 citations

Open access Jul 2026

Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders.

It is demonstrated that target capture-based LRS effectively detects diverse types of variants missed by SRS, and integrating this assay into stepwise diagnostic workflows offers a practical and cost-effective strategy to enhance diagnostic yield in autosomal recessive diseases.

Jee-Soo Lee, K. Ryu, Hyesu Lee et al. · European Journal of Human Ge... · 0 citations