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Neuromuscular Disorders : NMD|September 16, 2015
A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotypeTai-Seung Nam, Wenting Li, Suk-Hee Heo, et al.
Scientific Reports|February 22, 2020
Impaired DNA-binding affinity of novel PAX6 mutationsSeowhang Lee, Seung-Han Lee, Hwan Heo, et al.
Investigative Ophthalmology & Visual Science|July 20, 2018
Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus SyndromeJae-Hwan Choi, Jae-Ho Jung, Eun Hye Oh, et al.
Journal of the Neurological Sciences|June 2, 2017
NUDT15 p.R139C variant is common and strongly associated with azathioprine-induced early leukopenia and severe alopecia in Korean patients with various neurological diseasesSun-Young Kim, Jin-Hong Shin, Jin-Sung Park, et al.
Trials|May 18, 2022
Efficacy and safety of Lenzumestrocel (Neuronata-R® inj.) in patients with amyotrophic lateral sclerosis (ALSUMMIT study): study protocol for a multicentre, randomized, double-blind, parallel-group, sham procedure-controlled, phase III trialJae-Yong Nam, Tae Yong Lee, Kwijoo Kim, et al.
Neurocase|July 11, 2018
Early stage memory impairment, visual hallucinations, and myoclonus combined with temporal lobe atrophy predict Alzheimer's disease pathology in corticobasal syndromeNa-Yeon Jung, Jae-Hyeok Lee, Young Min Lee, et al.
Ophthalmic Genetics|June 16, 2021
Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndromeJae-Hwan Choi, Su-Jin Kim, Mervyn G Thomas, et al.
Scientific Reports|October 25, 2017
Genetic Variants Associated with Episodic Ataxia in KoreaKwang-Dong Choi, Ji-Soo Kim, Hyo-Jung Kim, et al.
Alzheimer Disease and Associated Disorders|October 1, 2021
Atypical Young-onset Dementia in Cerebral Thromboangiitis Obliterans: A Case ReportEun-Joo Kim, Na-Yeon Jung, Myung Jun Lee, et al.
Free Radical Biology & Medicine|March 15, 2026
27-Hydroxycholesterol Inhibits Muscle Cell Viability via Mitochondrial Dysfunction: Protective Role of ROS-induced HIF-1αBakhovuddin Azamov, Wan-Seog Shim, Chanhee Lee, et al.
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