Jangsup M. Moon

Seoul, Republic of Korea

Last Updated: 09/26/2026

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Found 203 publications

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

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

Journal: Journal of neuromuscular diseases

Published: August 19, 2026

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

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

Journal: Advanced science (Weinheim, Baden-Wurttemberg, Germany)

Published: April 24, 2026

Confirmatory Molecular Diagnosis of RFC1 Expansion in a Korean CANVAS Case Using Nanopore Cas9-Targeted Sequencing.

Confirmatory Molecular Diagnosis of RFC1 Expansion in a Korean CANVAS Case Using Nanopore Cas9-Targeted Sequencing.

Journal: Journal of clinical neurology (Seoul, Korea)

Published: February 27, 2026

Correction: Prediction of personalized antiseizure medications response based on clinical signatures in epilepsy.

Correction: Prediction of personalized antiseizure medications response based on clinical signatures in epilepsy.

Journal: Scientific reports

Published: February 02, 2026

Human iPSC-derived exosomes for amelioration of Huntington's disease through mitochondrial, synaptic, and anti-apoptotic mechanisms.

Human iPSC-derived exosomes for amelioration of Huntington's disease through mitochondrial, synaptic, and anti-apoptotic mechanisms.

Journal: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie

Published: December 25, 2025

Cationic Polymer for Aligner and Oral Biofilm Removal via Osmotic Mechanism.

Cationic Polymer for Aligner and Oral Biofilm Removal via Osmotic Mechanism.

Journal: Journal of dental research

Published: October 17, 2025

Genotype-structure-phenotype correlations define divergent natural history in early-onset spastic paraplegia type 4.

Genotype-structure-phenotype correlations define divergent natural history in early-onset spastic paraplegia type 4.

Journal: Brain : a journal of neurology

Published: October 09, 2025

Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder.

Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: September 20, 2025

Longitudinal Dynamics of Plasma Neurofilament Light Chain in Hereditary Spastic Paraplegia Type 11 (HSP-SPG11) and Type 15 (HSP-ZFYVE26).

Longitudinal Dynamics of Plasma Neurofilament Light Chain in Hereditary Spastic Paraplegia Type 11 (HSP-SPG11) and Type 15 (HSP-ZFYVE26).

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: August 21, 2025

Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.

Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.

Journal: NPJ genomic medicine

Published: July 17, 2025

Systemic T Cell Receptor Profiling Reveals Adaptive Immune Activation and Potential Immune Signatures of Diagnosis and Brain Atrophy in Epilepsy.

Systemic T Cell Receptor Profiling Reveals Adaptive Immune Activation and Potential Immune Signatures of Diagnosis and Brain Atrophy in Epilepsy.

Journal: Annals of clinical and translational neurology

Published: May 14, 2025

HLA Association With AQP4-IgG-Positive Neuromyelitis Optica Spectrum Disorder in the Korean Population.

HLA Association With AQP4-IgG-Positive Neuromyelitis Optica Spectrum Disorder in the Korean Population.

Journal: Neurology(R) neuroimmunology & neuroinflammation

Published: February 28, 2025

Showing 1-12 of 203

Last Updated: 09/26/2026