Browsing by Yonsei Author : Lee, Jung Hwan

Name:
Lee, Jung Hwan [이정환]
Department :
College of Medicine (의과대학) - Dept. of Neurology (신경과학교실)
Y-HRN :
(Yonsei Health Research Network)

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Issue DateTitleJournal Title
2018Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations YONSEI MEDICAL JOURNAL
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
2018선천성 혈소판감소증을 동반한 GNE 근육병증 Korean Journal of Neuromuscular Disorders (대한신경근육질환학회지)
2018FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1 YONSEI MEDICAL JOURNAL
2018Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy JOURNAL OF CLINICAL NEUROLOGY
2017Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in KoreaJOURNAL OF CLINICAL NEUROLOGY
2017Discovery of pathogenic variants in a large Korean cohort of inherited muscular disordersCLINICAL GENETICS
2017Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene JOURNAL OF CLINICAL NEUROLOGY
2017Distal myopathy with ADSSL1 mutations in Korean patientsNEUROMUSCULAR DISORDERS
2017Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean populationNEUROMUSCULAR DISORDERS
2017Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture JOURNAL OF CLINICAL NEUROLOGY
2017Clinical Characteristics of Spinal Muscular Atrophy in Korea Confirmed by Genetic Analysis. YONSEI MEDICAL JOURNAL
2017Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy ANNALS OF LABORATORY MEDICINE
2016First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy JOURNAL OF CLINICAL NEUROLOGY
2016전 척추옆근육위축을 동반한 몸통굽힘증 Korean Journal of Neuromuscular Disorders (대한신경근육질환학회지)
2016Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations YONSEI MEDICAL JOURNAL
2016횡문근융해증의 이해 Korean Journal of Neuromuscular Disorders (대한신경근육질환학회지)
2015Serum interleukin-27 expression in patients with myasthenia gravisJOURNAL OF NEUROIMMUNOLOGY
2015Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathyNEUROMUSCULAR DISORDERS
2015Clinical and Genetic Characterization of Female Dystrophinopathy JOURNAL OF CLINICAL NEUROLOGY
2015Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumeral muscular dystrophy type 1NEUROMUSCULAR DISORDERS
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