Author

Jangsup Moon

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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 Aug 2026

Optimized Cas9‐Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders

An amplification‐free nanopore Cas9‐targeted sequencing (nCATS) platform is modified to achieve uniform coverage across 56 currently defined STR loci using a single test with genomic DNA from patient‐derived blood cells and to develop a dedicated analysis algorithm, STRiker, capable of identifying internal motif contex...

Seungbok Lee, Chan-Ju Jung, Minjeong Kim et al. · Advancement of science · 0 citations