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YUHSpace1. College of Medicine (의과대학)Dept. of Rehabilitation Medicine (재활의학교실)1. Journal Papers

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Issue DateTitleJournal Title
2004A Case of Congenital Neuromuscular Disease with Uniform Type 1 Fiber YONSEI MEDICAL JOURNAL
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
2021Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study PLOS ONE
2016Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations YONSEI MEDICAL JOURNAL
2006Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance YONSEI MEDICAL JOURNAL
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
2004Dystrophinopathy 환자의 임상적, 면역조직화학적 및 유전학적 분석 Journal of the Korean Neurological Association
2016Elucidation of Relevant Neuroinflammation Mechanisms Using Gene Expression Profiling in Patients with Amyotrophic Lateral Sclerosis PLOS ONE
2017Long-Term Outcome of Amyotrophic Lateral Sclerosis in Korean Subjects Annals of Rehabilitation Medicine
2004Merosin 결핍 선천성근이영양증 1예 Journal of the Korean Neurological Association
2023Novel Pathogenic Variant in PIEZO2 in a Korean Patient with Distal Arthrogryposis Journal of Electrodiagnosis and Neuromuscular Diseases
2011Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy. YONSEI MEDICAL JOURNAL
2023Transcriptome analysis of skeletal muscle in dermatomyositis, polymyositis, and dysferlinopathy, using a bioinformatics approach FRONTIERS IN NEUROLOGY
2005중심코아병 환자의 척추측만증 수술적 교정 1예 Journal of the Korean Association of EMG-Electrodiagnostic Medicine
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