| 2024-02 |
Germinal centers are associated with postthymectomy myasthenia gravis in patients with thymoma |
European Journal of Neurology
|
| 2023-12 |
Transcriptome analysis of skeletal muscle in dermatomyositis, polymyositis, and dysferlinopathy, using a bioinformatics approach |
Frontiers in Neurology
|
| 2023-04 |
Novel Pathogenic Variant in PIEZO2 in a Korean Patient with Distal Arthrogryposis |
Journal of Electrodiagnosis and Neuromuscular Diseases
|
| 2023-04 |
Clinical significance of anti-NT5c1A autoantibody in Korean patients with inflammatory myopathies |
PLoS ONE
|
| 2023-03 |
Transcriptome profiling of skeletal muscles from Korean patients with Bethlem myopathy |
Medicine (United States)
|
| 2023-03 |
Anti-titin antibodies are associated with myocarditis in patients with myasthenia gravis |
JOURNAL OF NEUROLOGY
|
| 2022-12 |
Serum uric acid level predicts the progression of amyotrophic lateral sclerosis following treatment with edaravone |
REDOX REPORT
|
| 2022-09 |
Validation of the Individualized Neuromuscular Quality of Life Questionnaire in Korean Patients With Genetic Neuromuscular Diseases |
Journal of Clinical Neurology
|
| 2022-08 |
Clinical and Pathological Findings of Korean Patients with Selenoprotein N-Related Myopathy |
대한근전도 전기진단의학회지
|
| 2022-01 |
Incidence, Disability, and Mortality in Patients With Guillain-Barre Syndrome in Korea: A Nationwide Population-Based Study |
Journal of Clinical Neurology
|
| 2021-10 |
A Compound Heterozygous Pathogenic Variant in B4GALNT1 Is Associated With Axonal Charcot-Marie-Tooth Disease |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2021-07 |
Evaluating an In-House Cell-Based Assay for Detecting Antibodies Against Muscle-Specific Tyrosine Kinase in Myasthenia Gravis |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2021-07 |
Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study |
PLOS ONE
|
| 2021-05 |
Clinical Features and Brain MRI Findings in Korean Patients with AGel Amyloidosis |
YONSEI MEDICAL JOURNAL
|
| 2021-05 |
진단되지 않은 근육병 환자를 대상으로 시행한 늦은 발병 폼페병의 다기관 표적집단선별검사 |
대한신경과학회지
|
| 2021-05 |
근육병 환자의 평가를 위한 임상 척도 |
대한신경과학회지
|
| 2021-03 |
Null variants in DYSF result in earlier symptom onset |
CLINICAL GENETICS
|
| 2021-01 |
Nogo-A Is Critical for Pro-Inflammatory Gene Regulation in Myocytes and Macrophages |
Cells
|
| 2021-01 |
Nogo-A regulates myogenesis via interacting with Filamin-C |
Cell Death Discovery
|
| 2021-01 |
Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea |
YONSEI MEDICAL JOURNAL
|
| 2020-10 |
First Case of TARDBP-Related Amyotrophic Lateral Sclerosis in Korea |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2020-06 |
Prevalence, Mortality, and Cause of Death in Charcot-Marie-Tooth Disease in Korea: A Nationwide, Population-Based Study |
NEUROEPIDEMIOLOGY
|
| 2020-04 |
Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A) |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2020-01 |
LGMD2E with a novel nonsense variant in SGCB gene: a case of LGMD2E with a novel variant |
Annals of Clinical Neurophysiology
|
| 2020-01 |
Gender differences influence over insomnia in Korean population: A cross-sectional study |
PLOS ONE
|
| 2020-01 |
Proteomic analysis of the skeletal muscles from dysferlinopathy patients |
JOURNAL OF CLINICAL NEUROSCIENCE
|
| 2019-10 |
Clinical and Radiographic Characteristics of Neuro-Behçet’s Disease in South Korea |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2019-07 |
Progression of GNE Myopathy Based on the Patient-Reported Outcome |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2019-06 |
Risk of osteoporosis in patients with chronic inflammatory neuropathy-a population-based cohort study |
SCIENTIFIC REPORTS
|
| 2019-05 |
호흡곤란으로 인한 의식저하가 발생한 Tropomyosin 3 (TPM3 ) 유전자 돌연변이에 의한 선천근섬유형불균형 1가계 |
대한신경과학회지
|
| 2019-04 |
Effect of thymectomy in elderly patients with non-thymomatous generalized myasthenia gravis |
JOURNAL OF NEUROLOGY
|
| 2019-04 |
Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathy |
NEUROMUSCULAR DISORDERS
|
| 2019-02 |
Unusual cortical involvement in aquaporin-4 antibody-positive patients: An analysis with double inversion recovery and phase-sensitive inversion recovery imaging |
Multiple Sclerosis and Related Disorders
|
| 2019-01 |
Neurological Manifestations of Myeloneuropathy in Patients with Nitrous Oxide Intoxication |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2018-10 |
Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M: 30-month follow-up of seven patients |
NEUROMUSCULAR DISORDERS
|
| 2018-09 |
Risk factors for osteoporosis in chronic inflammatory demyelinating polyradiculoneuropathy |
MUSCLE & NERVE
|
| 2018-07 |
Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations |
YONSEI MEDICAL JOURNAL
|
| 2018-07 |
Clinical and laboratory features of patients with osteomalacia initially presenting with neurological manifestations |
OSTEOPOROSIS INTERNATIONAL
|
| 2018-06 |
선천성 혈소판감소증을 동반한 GNE 근육병증 |
대한신경근육질환학회지
|
| 2018-04 |
Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2018-03 |
FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1 |
YONSEI MEDICAL JOURNAL
|
| 2018-01 |
Partial Conduction Block as an Early Nerve Conduction Finding in Neurolymphomatosis |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2018-01 |
Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2017-12 |
Long-Term Outcome of Amyotrophic Lateral Sclerosis in Korean Subjects |
Annals of Rehabilitation Medicine
|
| 2017-10 |
Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2017-10 |
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2017-09 |
Clinical Characteristics of Spinal Muscular Atrophy in Korea Confirmed by Genetic Analysis |
YONSEI MEDICAL JOURNAL
|
| 2017-07 |
Henoch-Schonlein Purpura Presenting as Mononeuritis Multiplex |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2017-07 |
Cortical Thickness and White Matter Integrity are Associated with CTG Expansion Size in Myotonic Dystrophy Type I |
YONSEI MEDICAL JOURNAL
|
| 2017-07 |
Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy |
ANNALS OF LABORATORY MEDICINE
|
| 2017-06 |
Successful Extubation After Weaning Failure by Noninvasive Ventilation in Patients With Neuromuscular Disease: Case Series |
Annals of Rehabilitation Medicine
|
| 2017-06 |
Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population |
NEUROMUSCULAR DISORDERS
|
| 2017-05 |
Excessive tau accumulation in the parieto-occipital cortex characterizes early-onset Alzheimer's disease |
NEUROBIOLOGY OF AGING
|
| 2017-03 |
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders |
CLINICAL GENETICS
|
| 2017-02 |
Distal myopathy with ADSSL1 mutations in Korean patients |
NEUROMUSCULAR DISORDERS
|
| 2017-01 |
Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2017-01 |
Electron Microscopy Pathology of ADSSL1 Myopathy. |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2016-12 |
한국인 샤르코-마리-투스병의 임상진료지침 |
대한신경근육질환학회지
|
| 2016-11 |
Elucidation of Relevant Neuroinflammation Mechanisms Using Gene Expression Profiling in Patients with Amyotrophic Lateral Sclerosis |
PLOS ONE
|
| 2016-07 |
Recurrent episodes of rhabdomyolysis after seizures in a patient with glycogen storage disease type V |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2016-06 |
횡문근융해증의 이해 |
대한신경근육질환학회지
|
| 2016-06 |
전 척추옆근육위축을 동반한 몸통굽힘증 |
대한신경근육질환학회지
|
| 2016-06 |
Spinal cord involvement in Behcet's disease |
MULTIPLE SCLEROSIS JOURNAL
|
| 2016-03 |
The Epidemiology of Myasthenia Gravis in Korea |
YONSEI MEDICAL JOURNAL
|
| 2016-02 |
ADSSL1 Mutation Relevant to Autosomal Recessive Adolescent Onset Distal Myopathy |
ANNALS OF NEUROLOGY
|
| 2016-01 |
First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2016-01 |
Impact of smoking on neurodegeneration and cerebrovascular disease markers in cognitively normal men |
EUROPEAN JOURNAL OF NEUROLOGY
|
| 2016-01 |
Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations |
YONSEI MEDICAL JOURNAL
|
| 2015-12 |
산성 알파 글루코시다아제가 감소한 근육병에서 Whole Exome Sequencing을 이용한 DYSF 유전자 복합이형접합돌연변이의 규명 |
대한신경근육질환학회지
|
| 2015-11 |
Serum interleukin-27 expression in patients with myasthenia gravis. |
JOURNAL OF NEUROIMMUNOLOGY
|
| 2015-11 |
Low D4Z4 copy number and gender difference in korean patients with facioscapulohumeral muscular dystrophy type 1 |
NEUROMUSCULAR DISORDERS
|
| 2015-10 |
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
|
| 2015-08 |
PREDICTIVE FACTORS FOR MYASTHENIC CRISIS AFTER VIDEOSCOPIC THYMECTOMY IN PATIENTS WITH MYASTHENIA GRAVIS |
MUSCLE & NERVE
|
| 2015-07 |
Clinical and Genetic Characterization of Female Dystrophinopathy |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2015-06 |
Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy |
NEUROMUSCULAR DISORDERS
|
| 2015-04 |
Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2015-04 |
Pandemic influenza A vaccination and incidence of Guillain-Barre syndrome in Korea |
VACCINE
|
| 2015-04 |
Effect of enzyme replacement therapy in late onset Pompe disease: open pilot study of 48 weeks follow-up |
NEUROLOGICAL SCIENCES
|
| 2014-12 |
부신백질형성장애가 있는 한국인 가족 안에서 나타난 다양한 임상양상 |
대한근전도 전기진단의학회지
|
| 2014-08 |
Subdural Hemorrhage Mimicking Peripheral Neuropathy |
JOURNAL OF KOREAN NEUROSURGICAL SOCIETY
|
| 2014-07 |
The Significance of Clinical and Laboratory Features in the Diagnosis of Glycogen Storage Disease Type V: A Case Report |
JOURNAL OF KOREAN MEDICAL SCIENCE
|
| 2014-05 |
The Role of Insulin Resistance in Diabetic Neuropathy in Koreans with Type 2 Diabetes Mellitus: A 6-Year Follow-Up Study |
YONSEI MEDICAL JOURNAL
|
| 2014-05 |
Whole-Genome Analysis in Korean Patients with Autoimmune Myasthenia Gravis |
YONSEI MEDICAL JOURNAL
|
| 2014-05 |
Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy |
YONSEI MEDICAL JOURNAL
|
| 2014-04 |
Prevalence of Anti-Ganglioside Antibodies and Their Clinical Correlates with Guillain-Barre Syndrome in Korea: A Nationwide Multicenter Study |
JOURNAL OF CLINICAL NEUROLOGY
|