| 2018 | Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy
| JOURNAL OF CLINICAL NEUROLOGY |
| 2017 | Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome | MITOCHONDRION |
| 2017 | Long-Term Outcome of Amyotrophic Lateral Sclerosis in Korean Subjects
| Annals of Rehabilitation Medicine |
| 2017 | Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea
| JOURNAL OF CLINICAL NEUROLOGY |
| 2017 | Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture
| JOURNAL OF CLINICAL NEUROLOGY |
| 2017 | Clinical Characteristics of Spinal Muscular Atrophy in Korea Confirmed by Genetic Analysis.
| YONSEI MEDICAL JOURNAL |
| 2017 | Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population | NEUROMUSCULAR DISORDERS |
| 2017 | Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy
| ANNALS OF LABORATORY MEDICINE |
| 2017 | Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders | CLINICAL GENETICS |
| 2017 | Excessive tau accumulation in the parieto-occipital cortex characterizes early-onset Alzheimer's disease | NEUROBIOLOGY OF AGING |
| 2017 | Cortical Thickness and White Matter Integrity are Associated with CTG Expansion Size in Myotonic Dystrophy Type I
| YONSEI MEDICAL JOURNAL |
| 2017 | Electron Microscopy Pathology of ADSSL1 Myopathy.
| JOURNAL OF CLINICAL NEUROLOGY |
| 2017 | Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene
| JOURNAL OF CLINICAL NEUROLOGY |
| 2017 | Distal myopathy with ADSSL1 mutations in Korean patients | NEUROMUSCULAR DISORDERS |
| 2016 | 횡문근융해증의 이해
| Korean Journal of Neuromuscular Disorders (대한신경근육질환학회지) |
| 2016 | 한국인 샤르코-마리-투스병의 임상진료지침
| Korean Journal of Neuromuscular Disorders (대한신경근육질환학회지) |
| 2016 | Elucidation of Relevant Neuroinflammation Mechanisms Using Gene Expression Profiling in Patients with Amyotrophic Lateral Sclerosis
| PLOS ONE |
| 2016 | 전 척추옆근육위축을 동반한 몸통굽힘증
| Korean Journal of Neuromuscular Disorders (대한신경근육질환학회지) |
| 2016 | First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy
| JOURNAL OF CLINICAL NEUROLOGY |
| 2016 | Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V
| JOURNAL OF CLINICAL NEUROLOGY |
| 2016 | Spinal cord involvement in Behçet’s disease | MULTIPLE SCLEROSIS JOURNAL |
| 2016 | The Epidemiology of Myasthenia Gravis in Korea
| YONSEI MEDICAL JOURNAL |
| 2016 | ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy | ANNALS OF NEUROLOGY |
| 2016 | Impact of smoking on neurodegeneration and cerebrovascular disease markers in cognitively normal men | EUROPEAN JOURNAL OF NEUROLOGY |
| 2016 | Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations
| YONSEI MEDICAL JOURNAL |
| 2015 | 산성 알파 글루코시다아제가 감소한 근육병에서 Whole Exome Sequencing을 이용한 DYSF 유전자 복합이형접합돌연변이의 규명
| Korean Journal of Neuromuscular Disorders (대한신경근육질환학회지) |
| 2015 | Predictive factors for myasthenic crisis after videoscopic thymectomy in patients with myasthenia gravis | MUSCLE & NERVE |
| 2015 | Serum interleukin-27 expression in patients with myasthenia gravis | JOURNAL OF NEUROIMMUNOLOGY |
| 2015 | Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumeral muscular dystrophy type 1 | NEUROMUSCULAR DISORDERS |
| 2015 | Whole-Body Muscle MRI in Patients with Hyperkalemic Periodic Paralysis Carrying the SCN4A Mutation T704M: Evidence for Chronic Progressive Myopathy with Selective Muscle Involvement
| JOURNAL OF CLINICAL NEUROLOGY |
| 2015 | Clinical and Genetic Characterization of Female Dystrophinopathy
| JOURNAL OF CLINICAL NEUROLOGY |
| 2015 | Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy | NEUROMUSCULAR DISORDERS |
| 2015 | Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing
| JOURNAL OF CLINICAL NEUROLOGY |
| 2015 | Pandemic influenza A vaccination and incidence of Guillain-Barré syndrome in Korea | VACCINE |
| 2015 | Effect of enzyme replacement therapy in late onset Pompe disease: open pilot study of 48 weeks follow-up | NEUROLOGICAL SCIENCES |
| 2014 | 부신백질형성장애가 있는 한국인 가족 안에서 나타난 다양한 임상양상
| Journal of the Korean Association of EMG-Electrodiagnostic Medicine |
| 2014 | Subdural hemorrhage mimicking peripheral neuropathy.
| JOURNAL OF KOREAN NEUROSURGICAL SOCIETY |
| 2014 | The Significance of Clinical and Laboratory Features in the Diagnosis of Glycogen Storage Disease Type V: A Case Report
| JOURNAL OF KOREAN MEDICAL SCIENCE |
| 2014 | The Role of Insulin Resistance in Diabetic Neuropathy in Koreans with Type 2 Diabetes Mellitus: A 6-Year Follow-Up Study
| YONSEI MEDICAL JOURNAL |
| 2014 | Prevalence of Anti-Ganglioside Antibodies and Their Clinical Correlates with Guillain-Barre Syndrome in Korea: A Nationwide Multicenter Study
| JOURNAL OF CLINICAL NEUROLOGY |
| 2014 | Congenital muscular dystrophy type 1A with residual merosin expression
| Korean Journal of Pediatrics |
| 2014 | Clinical and Electrophysiologic Responses to Acetylcholinesterase Inhibitors in MuSK-Antibody-Positive Myasthenia Gravis: Evidence for Cholinergic Neuromuscular Hyperactivity
| JOURNAL OF CLINICAL NEUROLOGY |
| 2014 | Whole-Genome Analysis in Korean Patients with Autoimmune Myasthenia Gravis
| YONSEI MEDICAL JOURNAL |
| 2014 | Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy
| YONSEI MEDICAL JOURNAL |
| 2014 | Functional Outcomes in Duchenne Muscular Dystrophy Scoliosis Comparison of the Differences Between Surgical and Nonsurgical Treatment | JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME |
| 2014 | Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy
| JOURNAL OF CLINICAL NEUROLOGY |
| 2013 | A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy
| JOURNAL OF CLINICAL NEUROLOGY |
| 2013 | Female Carriers of Duchenne Muscular Dystrophy
| Journal of Genetic Medicine (대한의학유전학회지) |
| 2013 | Fluid-Attenuated Inversion Recovery Hyperintense Vessels in Posterior Cerebral Artery Infarction
| CEREBROVASCULAR DISEASES EXTRA |
| 2013 | Clinical, immunohistochemical, Western blot, and genetic analysis in dystrophinopathy | JOURNAL OF CLINICAL NEUROSCIENCE |
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