Browsing "1. Journal Papers" by Author : 4599

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Issue DateTitleJournal Title
2007A Case of Adult Polyglucosan Body Disease YONSEI MEDICAL JOURNAL
2004A Case of Adult-Onset Centronuclear Myopathy YONSEI MEDICAL JOURNAL
2004A Case of Congenital Neuromuscular Disease with Uniform Type 1 Fiber YONSEI MEDICAL JOURNAL
2013A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy JOURNAL OF CLINICAL NEUROLOGY
2009A familial case of Lambert-Eaton myasthenic syndrome with small cell lung cancerCLINICAL NEUROLOGY AND NEUROSURGERY
2001Acquired Pendular Nystagmus with Voluntary Inhibition YONSEI MEDICAL JOURNAL
2016ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathyANNALS OF NEUROLOGY
2005An aggressive form of familial amyloid polyneuropathy caused by a Glu54Gly mutation in the transthyretin geneEUROPEAN JOURNAL OF NEUROLOGY
2010Association between survivor motor neuron 2 (SMN2) gene homozygous deletion and sporadic lower motor neuron disease in a Korean population.ANNALS OF CLINICAL AND LABORATORY SCIENCE
2008Becker muscular dystrophy with r(X) carrying an out-of-frame DMD deletionPEDIATRIC NEUROLOGY
2012Characterization of the Asian myopathy patients with VCP mutations.EUROPEAN JOURNAL OF NEUROLOGY
1997Click음으로 유발된 전정-경반사의 근유발전위 Journal of the Korean Neurological Association (대한신경과학회지)
2013Clinical and electromyographic features of radiation-induced lower cranial neuropathyCLINICAL NEUROPHYSIOLOGY
2014Clinical and Electrophysiologic Responses to Acetylcholinesterase Inhibitors in MuSK-Antibody-Positive Myasthenia Gravis: Evidence for Cholinergic Neuromuscular Hyperactivity JOURNAL OF CLINICAL NEUROLOGY
2014Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy YONSEI MEDICAL JOURNAL
2015Clinical and Genetic Characterization of Female Dystrophinopathy JOURNAL OF CLINICAL NEUROLOGY
2018Clinical and laboratory features of patients with osteomalacia initially presenting with neurological manifestationsOSTEOPOROSIS INTERNATIONAL
2018Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy JOURNAL OF CLINICAL NEUROLOGY
2004Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B JOURNAL OF KOREAN MEDICAL SCIENCE
2014Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy JOURNAL OF CLINICAL NEUROLOGY
2017Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene JOURNAL OF CLINICAL NEUROLOGY
2016Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations YONSEI MEDICAL JOURNAL
2019Clinical and Radiographic Characteristics of Neuro-Behçet's Disease in South Korea JOURNAL OF CLINICAL NEUROLOGY
2013Clinical Characteristics and Molecular Genetic Analysis of Korean Patients with GNE Myopathy YONSEI MEDICAL JOURNAL
2009Clinical characteristics and outcomes of juvenile and adult dermatomyositis. JOURNAL OF KOREAN MEDICAL SCIENCE
2017Clinical Characteristics of Spinal Muscular Atrophy in Korea Confirmed by Genetic Analysis. YONSEI MEDICAL JOURNAL
2009Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. JOURNAL OF CLINICAL NEUROLOGY
2010Clinical heterogeneity in Korean patients with nemaline myopathy YONSEI MEDICAL JOURNAL
2013Clinical, immunohistochemical, Western blot, and genetic analysis in dystrophinopathyJOURNAL OF CLINICAL NEUROSCIENCE
2017Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in KoreaJOURNAL OF CLINICAL NEUROLOGY
2019Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathyNEUROMUSCULAR DISORDERS
2006Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance YONSEI MEDICAL JOURNAL
2014Congenital muscular dystrophy type 1A with residual merosin expression Korean Journal of Pediatrics
2011Correlation of electromyogram and muscle biopsy in myopathy of young ageARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION
2017Cortical Thickness and White Matter Integrity are Associated with CTG Expansion Size in Myotonic Dystrophy Type I YONSEI MEDICAL JOURNAL
2009Differences between the measured and calculated free serum phenytoin concentrations in epileptic patients YONSEI MEDICAL JOURNAL
2017Discovery of pathogenic variants in a large Korean cohort of inherited muscular disordersCLINICAL GENETICS
2017Distal myopathy with ADSSL1 mutations in Korean patientsNEUROMUSCULAR DISORDERS
2012Duchenne 근디스트로피의 치료에 대한 고찰 Journal of the Korean Neurological Association
2004Dystrophinopathy 환자의 임상적, 면역조직화학적 및 유전학적 분석 Journal of the Korean Neurological Association
2017Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture JOURNAL OF CLINICAL NEUROLOGY
2015Effect of enzyme replacement therapy in late onset Pompe disease: open pilot study of 48 weeks follow-upNEUROLOGICAL SCIENCES
2019Effect of thymectomy in elderly patients with non-thymomatous generalized myasthenia gravisJournal of Neurology
2017Electron Microscopy Pathology of ADSSL1 Myopathy. JOURNAL OF CLINICAL NEUROLOGY
2011Elevated serum level of interleukin-32α in the patients with myasthenia gravisJOURNAL OF NEUROLOGY
2016Elucidation of Relevant Neuroinflammation Mechanisms Using Gene Expression Profiling in Patients with Amyotrophic Lateral Sclerosis PLOS ONE
2008ENMC 진단기준을 이용한 다발성근염의 임상적, 병리학적 특성 Journal of the Korean Rheumatism Association (대한류마티스학회지)
2017Excessive tau accumulation in the parieto-occipital cortex characterizes early-onset Alzheimer's diseaseNEUROBIOLOGY OF AGING
2010Facial Diplegia in Plasmodium vivax Malaria JOURNAL OF CLINICAL NEUROLOGY
2018FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1 YONSEI MEDICAL JOURNAL
2013Female Carriers of Duchenne Muscular Dystrophy Journal of Genetic Medicine (대한의학유전학회지)
2020First Case of TARDBP-Related Amyotrophic Lateral Sclerosis in Korea JOURNAL OF CLINICAL NEUROLOGY
2016First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy JOURNAL OF CLINICAL NEUROLOGY
2013Fluid-Attenuated Inversion Recovery Hyperintense Vessels in Posterior Cerebral Artery Infarction CEREBROVASCULAR DISEASES EXTRA
2014Functional Outcomes in Duchenne Muscular Dystrophy Scoliosis Comparison of the Differences Between Surgical and Nonsurgical TreatmentJOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME
2020Gender Differences Influence Over Insomnia in Korean Population: A Cross-Sectional Study PLOS ONE
2018Henoch-Schönlein Purpura Presenting as Mononeuritis Multiplex JOURNAL OF CLINICAL NEUROLOGY
2020Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A) JOURNAL OF CLINICAL NEUROLOGY
2012Heterogeneous characteristics of Korean patients with dysferlinopathy JOURNAL OF KOREAN MEDICAL SCIENCE
2012Homozygous SMN2 deletion is a major risk factor among twenty-five Korean sporadic amyotrophic lateral sclerosis patients YONSEI MEDICAL JOURNAL

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