Identification of genetic causes of inherited peripheral neuropathies by targeted gene panel sequencing SH Nam, YB Hong, YS Hyun, G Kwak, SH Hwang, BO Choi, KW Chung Molecules and cells 39 (5), 382-388, 2016 | 82 | 2016 |
Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome DH Yoo, DE Nam, YC Choi, SS Choi, JW Kim, BO Choi, KW Chung Mitochondrion 35, 54-58, 2017 | 46 | 2017 |
Wide phenotypic spectrum in axonal Charcot–Marie–tooth neuropathy type 2 patients with KIF5A mutations DE Nam, DH Yoo, SS Choi, BO Choi, KW Chung Genes & genomics 40 (1), 77-84, 2018 | 30 | 2018 |
Association of miR-149 polymorphism with onset age and severity in Charcot–Marie–Tooth disease type 1A SH Nam, S Kanwal, DE Nam, MH Lee, TH Kang, SC Jung, BO Choi, ... Neuromuscular Disorders 28 (6), 502-507, 2018 | 25 | 2018 |
Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy AJ Lee, DE Nam, YJ Choi, SH Nam, BO Choi, KW Chung Genes & genomics 42 (6), 663-672, 2020 | 22 | 2020 |
BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot–Marie–Tooth disease SJ Kim, SH Nam, S Kanwal, DE Nam, DH Yoo, JH Chae, YL Suh, ... Genes & genomics 40 (12), 1269-1277, 2018 | 19 | 2018 |
Axonal Charcot‐Marie‐Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3′ UTR in NEFH DE Nam, SC Jung, DH Yoo, SS Choi, SY Seo, GH Kim, SJ Kim, SH Nam, ... Journal of the Peripheral Nervous System 22 (3), 200-207, 2017 | 18 | 2017 |
Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot‐Marie‐Tooth disease family DE Nam, SH Nam, AJ Lee, YB Hong, BO Choi, KW Chung Journal of the Peripheral Nervous System 23 (1), 60-66, 2018 | 15 | 2018 |
Clinical characterization and genetic analysis of Korean patients with X‐linked Charcot‐Marie‐Tooth disease type 1 YB Hong, JM Park, JS Yu, DH Yoo, DE Nam, HJ Park, JS Lee, SH Hwang, ... Journal of the Peripheral Nervous System 22 (3), 172-181, 2017 | 14 | 2017 |
Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss HR Park, S Kanwal, SO Lim, DE Nam, YJ Choi, KW Chung Molecular Biology Reports 47 (12), 9979-9985, 2020 | 13 | 2020 |
Paternal gender specificity and mild phenotypes in Charcot–Marie–Tooth type 1A patients with de novo 17p12 rearrangements AJ Lee, DE Nam, YJ Choi, SW Noh, SH Nam, HJ Lee, SJ Kim, GJ Song, ... Molecular Genetics & Genomic Medicine 8 (9), e1380, 2020 | 12 | 2020 |
Peripheral myelin protein 22 gene mutations in charcot-marie-tooth disease type 1E patients NY Jung, HM Kwon, DE Nam, N Tamanna, AJ Lee, SB Kim, BO Choi, ... Genes 13 (7), 1219, 2022 | 11 | 2022 |
Genetic authentication of cultivars with flower-variant types using SSR markers in spring orchid, Cymbidium goeringii HJ Lee, HR Park, AJ Lee, DE Nam, DG Lee, Y Do, KW Chung Horticulture, Environment, and Biotechnology 61, 577-590, 2020 | 10 | 2020 |
Variants of aminoacyl‐tRNA synthetase genes in Charcot‐Marie‐Tooth disease: A Korean cohort study DE Nam, JH Park, CE Park, NY Jung, SH Nam, HM Kwon, HS Kim, ... Journal of the Peripheral Nervous System 27 (1), 38-49, 2022 | 8 | 2022 |
Clinical and Neuroimaging Features in Charcot–Marie–Tooth Patients with GNB4 Mutations HM Kwon, HS Kim, SB Kim, JH Park, DE Nam, AJ Lee, SH Nam, S Hwang, ... Life 11 (6), 494, 2021 | 7 | 2021 |
INF2 mutations in patients with a broad phenotypic spectrum of Charcot‐Marie‐Tooth disease and focal segmental glomerulosclerosis JH Park, HM Kwon, DE Nam, HJ Kim, SH Nam, SB Kim, BO Choi, ... Journal of the Peripheral Nervous System 28 (1), 108-118, 2023 | 4 | 2023 |
Genetic Diversity and Population Structure of the Spring Orchid Cymbidium goeringii in Korean Distant Islands SW Noh, JK Park, JS Yu, DE Nam, Y Do, KW Chung Diversity 12 (12), 486, 2020 | 4 | 2020 |
Y-chromosome haplogrouping for Asians using Y-SNP target sequencing SS Choi, KH Park, TH Kang, KW Chung Forensic Science International: Genetics Supplement Series 6, e235-e237, 2017 | 3 | 2017 |
Gene distribution in pediatric-onset inherited peripheral neuropathy: A single tertiary center in thailand P Kulsirichawaroj, Y Suksangkharn, DE Nam, T Pho-Iam, C Limwongse, ... Journal of Neuromuscular Diseases, 1-9, 2024 | 1 | 2024 |
Genetic Kinship and Discrimination between the Cultivars Consisting a Sister Cultivar Group in Spring Orchid Cymbidium goeringii DE Nam, JS Yu, SW Noh, KS Lee, JH Hwang, DG Lee, KW Chung Horticultural Science and Technology, 2021 | 1 | 2021 |