日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Another common genetic ataxia in South Korea: Spinocerebellar ataxia 36

韩国另一种常见的遗传性共济失调:脊髓小脑性共济失调36

Ahn, Jong Hyeon; Lee, Seungbok; Moon, Jangsup; Han, Yoojung; Chang, Hyeshik; Youn, Jinyoung; Cho, Jin Whan; Jang, Ja-Hyun

Systemic T Cell Receptor Profiling Reveals Adaptive Immune Activation and Potential Immune Signatures of Diagnosis and Brain Atrophy in Epilepsy

系统性T细胞受体谱分析揭示癫痫的适应性免疫激活以及诊断和脑萎缩的潜在免疫特征

Shin, Yong-Won; Hong, Sang Bin; Shin, Yong Woo; Hwang, Inpyeong; Oh, Jaeseong; Choi, Jihyeon; Kim, Narae; Moon, Jangsup; Jung, Keun-Hwa; Park, Kyung-Il; Jung, Ki-Young; Chu, Kon; Lee, Sang Kun

HLA Association With AQP4-IgG-Positive Neuromyelitis Optica Spectrum Disorder in the Korean Population

韩国人群中HLA与AQP4-IgG阳性视神经脊髓炎谱系障碍的关联

Hyun, Jae-Won; Kim, Sinae; Moon, Jangsup; Park, Na Young; Kang, You-Ri; Kim, Ki Hoon; Kim, Su-Hyun; Kim, Ho Jin

Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families

基因组测序在罕见病中的临床应用:一项纳入1452个韩国家庭的单中心研究的启示

Lee, Seungbok; Seo, Go Hun; Kim, Soo Yeon; Jang, Se Song; Jang, Seoyun; Choi, Songji; Chin, Hyungjin; Lee, Seung Jae; Oh, Dong Eon; Ryu, Seung Woo; Kim, Jihye; Moon, Dongseok; Jang, Seokhui; Lim, Byung Chan; Moon, Jangsup; Han, Heonjong; Lee, Hane; Chae, Jong-Hee

Prediction of personalized antiseizure medications response based on clinical signatures in epilepsy

基于癫痫临床特征预测个体化抗癫痫药物疗效

Park, Kyung-Il; Shin, Youmin; Hwang, Sungeun; Kim, Yong-Jeong; Lee, Seung-Bo; Son, Hyoshin; Moon, Jangsup; Lee, Soon-Tae; Jung, Keun-Hwa; Chu, Kon; Jung, Ki-Young; Kim, Young-Gon; Lee, Sang Kun

Establishing an induced pluripotent stem cell bank using urine cells from pediatric patients with neurogenetic diseases

利用神经遗传疾病患儿的尿液细胞建立诱导多能干细胞库

Thai, Hien Bao Dieu; Jung, WonWoo; Choi, Sol; Kim, Woo Joong; Moon, JangSup; Lim, ByungChan

A Practical Guide for Diagnostic Investigations and Special Considerations in Patients With Huntington's Disease in Korea

韩国亨廷顿病患者诊断检查及特殊注意事项实用指南

Moon, Jangsup; Oh, Eungseok; Kim, Minkyeong; Kim, Ryul; Yoo, Dallah; Shin, Chaewon; Lee, Jee-Young; Kim, Jong-Min; Koh, Seong-Beom; Kim, Manho; Jeon, Beomseok

Tandem repeat disorders: from diagnosis to emerging therapeutic strategies

串联重复序列疾病:从诊断到新兴治疗策略

Moon, Jangsup

Multi-omic insights into molecular mechanism and therapeutic targets in spinocerebellar ataxia type 7

多组学视角揭示脊髓小脑性共济失调7型的分子机制和治疗靶点

Soo Hyun Ahn ,Yoonhyuk Jang ,Bum-Sup Jang ,Jangsup Moon ,Woo-Jin Lee ,Dong-Kyu Park ,Jung-Suk Yu ,Hyoshin Son ,Hyeyoon Kim ,Dohyun Han ,Heeyoung Seok ,Yongmoo Kim ,Seo-Yi Shin ,Soon-Tae Lee ,Kyung-Il Park ,Keun-Hwa Jung ,Daejong Jeon ,Sang Kun Lee ,Kon Chu

Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases

在临床实践中应用基因组医学治疗未确诊的罕见病成人患者

Ahn, Jong Hyeon; Yoon, Jihoon G; Cho, Jaeso; Lee, Seungbok; Kim, Sheehyun; Kim, Man Jin; Kim, Soo Yeon; Lee, Soon-Tae; Chu, Kon; Lee, Sang Kun; Kim, Han-Joon; Youn, Jinyoung; Jang, Ja-Hyun; Chae, Jong-Hee; Moon, Jangsup; Cho, Jin Whan