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

Sleep Related Problems as a Nonmotor Symptom of Dentatorubropallidoluysian Atrophy

睡眠相关问题作为齿状核红核苍白球路易体萎缩症的非运动症状

Kim, Hyeyun; Yun, Ji Young; Choi, Kyoung-Gyu; Koo, Heasoo; Han, Hyun Jeong

Electron Microscopy Pathology of ADSSL1 Myopathy

ADSSL1肌病的电镜病理学研究

Park, Hyung Jun; Lee, Jee Eun; Choi, Gyeong Seon; Koo, Heasoo; Han, Soo Jeong; Yoo, Jeong Hyun; Choi, Young Chul; Park, Kee Duk

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1

与 OPA1 新型复合杂合突变相关的隐性视神经萎缩、感觉运动神经病变和白内障

Jinho Lee, Sung-Chul Jung, Young Bin Hong, Jeong Hyun Yoo, Heasoo Koo, Ja Hyun Lee, Hyun Dae Hong, Sang-Beom Kim, Ki Wha Chung, Byung-Ok Choi

Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V

糖原贮积症V型患者癫痫发作后反复出现横纹肌溶解症

Park, Hyung Jun; Chang, Yoonkyung; Lee, Jee Eun; Koo, Heasoo; Oh, Jeeyoung; Choi, Young Chul; Park, Kee Duk

A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy

PMP2 基因突变导致显性脱髓鞘性夏科-马里-图斯神经病

Young Bin Hong, Jaesoon Joo, Young Se Hyun, Geon Kwak, Yu-Ri Choi, Ha Kyung Yeo, Dong Hwan Jwa, Eun Ja Kim, Won Min Mo, Soo Hyun Nam, Sung Min Kim, Jeong Hyun Yoo, Heasoo Koo, Hwan Tae Park, Ki Wha Chung, Byung-Ok Choi

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family

韩国德杰林-索塔斯神经病家族中发现的新型复合杂合无义PRX突变

Choi, Ye Ji; Hyun, Young Se; Nam, Soo Hyun; Koo, Heasoo; Hong, Young Bin; Chung, Ki Wha; Choi, Byung-Ok

A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy

在两个患有轴索感觉运动性多发性神经病的家族中发现了一种新的纯合MPV17突变。

Choi, Yu-Ri; Hong, Young Bin; Jung, Sung-Chul; Lee, Ja Hyun; Kim, Ye Jin; Park, Hyung Jun; Lee, Jinho; Koo, Heasoo; Lee, Ji-Su; Jwa, Dong Hwan; Jung, Namhee; Woo, So-Youn; Kim, Sang-Beom; Chung, Ki Wha; Choi, Byung-Ok

Zonal difference and prognostic significance of foxp3 regulatory T cell infiltration in breast cancer

Foxp3调节性T细胞浸润在乳腺癌中的区域差异及其预后意义

Kim, Sewha; Lee, Anbok; Lim, Woosung; Park, Sanghui; Cho, Min Sun; Koo, Heasoo; Moon, Byung-In; Sung, Sun Hee

Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy

一个家族中存在隐性C10orf2突变,该家族患有婴儿期发病的脊髓小脑性共济失调、感觉运动性多发性神经病和肌病。

Park, Mi-Hyun; Woo, Hae-Mi; Hong, Young Bin; Park, Ji Hoon; Yoon, Bo Ram; Park, Jin-Mo; Yoo, Jeong Hyun; Koo, Heasoo; Chae, Jong-Hee; Chung, Ki Wha; Choi, Byung-Ok; Koo, Soo Kyung

Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease

PLEKHG5基因突变与常染色体隐性遗传中间型夏科-马里-图斯病相关。

Kim, Hyeon Jin; Hong, Young Bin; Park, Jin-Mo; Choi, Yu-Ri; Kim, Ye Jin; Yoon, Bo Ram; Koo, Heasoo; Yoo, Jeong Hyun; Kim, Sang Beom; Park, Minhwa; Chung, Ki Wha; Choi, Byung-Ok