Browsing "1. Journal Papers" by Author : 4599

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Showing results 81 to 140 of 216

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Issue DateTitleJournal Title
2020LGMD2E with a novel nonsense variant in SGCB gene: a case of LGMD2E with a novel variant Annals of Clinical Neurophysiology
2017Long-Term Outcome of Amyotrophic Lateral Sclerosis in Korean Subjects Annals of Rehabilitation Medicine
2015Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumeral muscular dystrophy type 1NEUROMUSCULAR DISORDERS
2018Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M: 30-month follow-up of seven patients.NEUROMUSCULAR DISORDERS
2005Magnetic resonance tractography in a patient with alexia without agraphiaEUROPEAN NEUROLOGY
2004Merosin 결핍 선천성근이영양증 1예 Journal of the Korean Neurological Association
2005Miyoshi형 원위부 근육병증 1례 Journal of the Korean Association of EMG-Electrodiagnostic Medicine
2015Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing JOURNAL OF CLINICAL NEUROLOGY
2010Multiplex Ligation-dependent Probe Amplification (MLPA) 방법에 의한 디스트로핀 유전자 돌연변이 분자학적 진단의 유용성 Journal of the Korean Neurological Association
2006MuSK antibody-positive, seronegative myasthenia gravis in KoreaJOURNAL OF CLINICAL NEUROSCIENCE
2005MuSK 항체 양성을 보이는 혈청음성 중증근무력증 환자의 임상적 특징 Journal of the Korean Neurological Association
2006Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuolesJOURNAL OF HUMAN GENETICS
2019Neurological Manifestations of Myeloneuropathy in Patients with Nitrous Oxide Intoxication JOURNAL OF CLINICAL NEUROLOGY
2007Neuromyelitis optica with brainstem lesion mistaken for brainstem glioma. Case report.JOURNAL OF NEUROSURGERY
2021Nogo-A Is Critical for Pro-Inflammatory Gene Regulation in Myocytes and Macrophages CELLS
2021Nogo-A regulates myogenesis via interacting with Filamin-C CELL DEATH DISCOVERY
2009Novel CLCN1 mutations and clinical features of korean patients with myotonia congenita. JOURNAL OF KOREAN MEDICAL SCIENCE
2017Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy ANNALS OF LABORATORY MEDICINE
2023Novel Pathogenic Variant in PIEZO4 in a Korean Patient with Distal Arthrogryposis Journal of Electrodiagnosis and Neuromuscular Diseases
2021Null variants in DYSF result in earlier symptom onsetCLINICAL GENETICS
2020Olaparib monotherapy for Asian patients with a germline BRCA mutation and HER2-negative metastatic breast cancer: OlympiAD randomized trial subgroup analysis SCIENTIFIC REPORTS
2015Pandemic influenza A vaccination and incidence of Guillain-Barré syndrome in KoreaVACCINE
2018Partial Conduction Block as an Early Nerve Conduction Finding in Neurolymphomatosis JOURNAL OF CLINICAL NEUROLOGY
2018Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia JOURNAL OF CLINICAL NEUROLOGY
2005Phenotypic variability in Kennedy's disease: implication of the early diagnostic featuresACTA NEUROLOGICA SCANDINAVICA
2005Pneumomediastinum Due to Intractable Hiccup as the Presenting Symptom of Multiple Sclerosis YONSEI MEDICAL JOURNAL
2012Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.CLINICAL GENETICS
2021Predicting Insignificant Prostate Cancer: Analysis of the Pathological Outcomes of Candidates for Active Surveillance according to the Pre-International Society of Urological Pathology (Pre-ISUP) 2014 Era Versus the Post-ISUP2014 Era WORLD JOURNAL OF MENS HEALTH
2003Prediction of Early Clinical Severity and Extent of Neuronal Damage in Anterior-Circulation Infarction Using the Initial Serum Neuron-Specific Enolase LevelARCHIVES OF NEUROLOGY
2015Predictive factors for myasthenic crisis after videoscopic thymectomy in patients with myasthenia gravisMUSCLE & NERVE
2019Prevalence and Socioeconomic Status of Patients with Genetic Myopathy in Korea: A Nationwide, Population-Based StudyNEUROEPIDEMIOLOGY
2014Prevalence of Anti-Ganglioside Antibodies and Their Clinical Correlates with Guillain-Barre Syndrome in Korea: A Nationwide Multicenter Study JOURNAL OF CLINICAL NEUROLOGY
2020Prevalence, Mortality, and Cause of Death in Charcot-Marie-Tooth Disease in Korea: A Nationwide, Population-Based StudyNEUROEPIDEMIOLOGY
2008Prognosis of ocular myasthenia in Korea: a retrospective multicenter analysis of 202 patientsJOURNAL OF THE NEUROLOGICAL SCIENCES
2019Progression of GNE Myopathy Based on the Patient-Reported Outcome Journal of Clinical Neurology
2020Proteomic Analysis of the Skeletal Muscles From Dysferlinopathy PatientsJOURNAL OF CLINICAL NEUROSCIENCE
2016Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V JOURNAL OF CLINICAL NEUROLOGY
2018Risk factors for osteoporosis in chronic inflammatory demyelinating polyradiculoneuropathy.MUSCLE & NERVE
2019Risk of osteoporosis in patients with chronic inflammatory neuropathy- a population-based cohort st Scientific Reports
2021Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trialLANCET NEUROLOGY
2005Serotonin transporter gene polymorphism and migraine in the Korean populationHEADACHE
2012Serum and cerebrospinal fluid neuron-specific enolase for diagnosis of tuberculous meningitis YONSEI MEDICAL JOURNAL
2008Serum BAFF expression in patients with myasthenia gravisJOURNAL OF NEUROIMMUNOLOGY
2015Serum interleukin-27 expression in patients with myasthenia gravisJOURNAL OF NEUROIMMUNOLOGY
2010Serum neuron-specific enolase level as a biomarker in differential diagnosis of seizure and syncopeJOURNAL OF NEUROLOGY
2022Serum uric acid level predicts the progression of amyotrophic lateral sclerosis following treatment with edaravone REDOX REPORT
1996Sleep related periodic leg movments associated with spinal cord lesionMOVEMENT DISORDERS
2016Spinal cord involvement in Behçet’s diseaseMULTIPLE SCLEROSIS JOURNAL
2000Sporadic inclusion body myositis correlates with increased expression and cross-linking by transglutaminases 1 and 2 Journal of Biological Chemistry
2014Subdural hemorrhage mimicking peripheral neuropathy. JOURNAL OF KOREAN NEUROSURGICAL SOCIETY
2010Superficial siderosis in cervical disc herniationEUROPEAN NEUROLOGY
2015Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathyNEUROMUSCULAR DISORDERS
2017Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean populationNEUROMUSCULAR DISORDERS
2011The assessment of routine electroencephalography in patients with altered mental status. YONSEI MEDICAL JOURNAL
2022The avalglucosidase alfa phase 3 COMET trial in late-onset Pompe disease patients: Efficacy and safety results after 97 weeksMOLECULAR GENETICS AND METABOLISM
2001The central conduction time in posterior tibial and pudendal nerve somatosensory evoked potentials YONSEI MEDICAL JOURNAL
2016The Epidemiology of Myasthenia Gravis in Korea YONSEI MEDICAL JOURNAL
2012The expression of BAFF in the muscles of patients with dermatomyositis.JOURNAL OF NEUROIMMUNOLOGY
2010The prevalence of thyrotoxicosis-related seizuresTHYROID
2014The Role of Insulin Resistance in Diabetic Neuropathy in Koreans with Type 2 Diabetes Mellitus: A 6-Year Follow-Up Study YONSEI MEDICAL JOURNAL

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