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

The establishment of a molecular diagnostic platform for mitochondrial diseases: From conventional to next-generation sequencing

建立线粒体疾病分子诊断平台:从传统测序到新一代测序

Tsai, Ni-Chin; Liou, Chai-Wai; Cheng, Yin-Hua; Lien, Hao-Ting; Lin, Tzu-Ling; Lin, Tsu-Kung; Lan, Min-Yu; Hung, Pi-Lien; Wang, Tzu-Jou; Lee, Chen-Hao; Liang, Yi-Chih; Lan, Kuo-Chung

Computational molecular characterization of a novel SLC20A2 variant associated with primary familial brain calcification

对一种与原发性家族性脑钙化相关的新型SLC20A2变异体进行计算分子表征

Lan, Shih-Chun; Huang, Yu-Sung; Tsai, Jia-Yin; Lan, Min-Yu; Sun, Yuh-Ju; Chang, Yung-Yee

Neuronal-specific antibody in patients with multiple system atrophy and progressive supranuclear palsy

多系统萎缩和进行性核上性麻痹患者的神经元特异性抗体

Fang, Mimi S; Tsai, Ming-Chen; Arlt, Friederike A; Li, Cheng-Hsuan; Fan, Sung-Pin; Chen, Pin-Shiuan; Chang, Yang-Yee; Lan, Min-Yu; Wu, Yih-Ru; Hsiao, Ing-Tsung; Chiang, Han-Lin; Chen, Chun-Yu; Lee, Tsung-Lin; Chang, Hsiu-Chen; Hsu, Jung-Lung; Lu, Chin-Song; McKeon, Andrew; Lin, Chin-Hsien

Nerve conduction features may serve as a diagnostic clue for neuronal intranuclear inclusion disease.

神经传导特征可作为神经元核内包涵体病的诊断线索

Jih Kang-Yang, Lan Min-Yu, Liu Yi-Hong, Tsai Yu-Shuen, Lin Po-Yu, Lai Kuan-Lin, Liao Yi-Chu, Lee Yi-Chung

Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation

台湾肌张力障碍患者IRF2BPL基因的遗传分析:基因型与表型的相关性

Chen, Pin-Shiuan; Chen, Ying-Fa; Chiu, Jian-Ying; Wu, Meng-Chen; Tai, Chun-Hwei; Chang, Yung-Yee; Lan, Min-Yu; Lee, Ni-Chung; Lin, Chin-Hsien

Acute necrotizing encephalopathy in adult patients with influenza: a case report and review of the literature

成人流感患者急性坏死性脑病:病例报告及文献综述

Chen, Hsi; Lan, Shih-Chun; Tseng, Yu-Lung; Chang, Yung-Yee; Lu, Yan-Ting; Lan, Min-Yu

The Genetics of Primary Familial Brain Calcification: A Literature Review

原发性家族性脑钙化的遗传学:文献综述

Chen, Shih-Ying; Ho, Chen-Jui; Lu, Yan-Ting; Lin, Chih-Hsiang; Lan, Min-Yu; Tsai, Meng-Han

Telbivudine-Induced Myopathy: Clinical Features, Histopathological Characteristics, and Risk Factors

替比夫定诱发的肌病:临床特征、组织病理学特征和危险因素

Lan, Min-Yu; Lin, Hui-Chen; Hu, Tsung-Hui; Chen, Shu-Fang; Chen, Chien-Hung; Chang, Yung-Yee; Chiu, King-Wah; Lin, Tsu-Kung; Chen, Shun-Sheng

Higher prevalence of idiopathic normal pressure hydrocephalus-like MRI features in progressive supranuclear palsy: An imaging reminder of atypical parkinsonism

进行性核上性麻痹中特发性正常压力脑积水样MRI特征的发生率较高:影像学上提示非典型帕金森综合征

Fu, Mu-Hui; Huang, Chih-Cheng; Wu, Kay L H; Chen, Ying-Fa; Kung, Yu-Chih; Lee, Cheng-Chang; Liu, Jia-Shou; Lan, Min-Yu; Chang, Yung-Yee

Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement

对一组患有痉挛性截瘫合并小脑受累的台湾患者进行临床和基因特征分析

Lan, Min-Yu; Lu, Chin-Song; Wu, Shey-Lin; Chen, Ying-Fa; Sung, Yueh-Feng; Tu, Min-Chien; Chang, Yung-Yee