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

Multidisciplinary Approaches for Diagnosing Underrecognized Transthyretin Amyloidosis in Real-World Practice

真实世界中诊断未被充分认识的转甲状腺素蛋白淀粉样变性的多学科方法

Chang, Hao-Chih; Kuo, Ling; Yu, Tsyr-Yan; Liu, Yo-Tsen; Lin, Kon-Ping; Yu, Wen-Chung

Impact of Vutrisiran on Quality of Life and Physical Function in Patients with Hereditary Transthyretin-Mediated Amyloidosis with Polyneuropathy

Vutrisiran 对伴有多发性神经病的遗传性转甲状腺素蛋白介导的淀粉样变性患者的生活质量和身体功能的影响

Obici, Laura; Ajroud-Driss, Senda; Lin, Kon-Ping; Berk, John L; Gillmore, Julian D; Kale, Parag; Koike, Haruki; Danese, David; Aldinc, Emre; Chen, Chongshu; Vest, John; Adams, David

Reduced-penetrance Huntington's disease-causing alleles with 39 CAG trinucleotide repeats could be a genetic factor of amyotrophic lateral sclerosis

具有39个CAG三核苷酸重复序列的亨廷顿病致病等位基因的低外显率可能是肌萎缩侧索硬化症的遗传因素。

Jih, Kang-Yang; Lai, Kuan-Lin; Lin, Kon-Ping; Liao, Yi-Chu; Lee, Yi-Chung

Genetic and Functional Analysis of Glycosyltransferase 8 Domain-Containing Protein 1 in Taiwanese Patients With Amyotrophic Lateral Sclerosis

台湾肌萎缩侧索硬化症患者的糖基转移酶 8 结构域蛋白 1 的遗传和功能分析

Pei-Chien Tsai, Kang-Yang Jih, Ting-Yi Shen, Yi-Hong Liu, Kon-Ping Lin, Yi-Chu Liao, Yi-Chung Lee

Cellular secretion and cytotoxicity of transthyretin mutant proteins underlie late-onset amyloidosis and neurodegeneration

转甲状腺素蛋白突变蛋白的细胞分泌和细胞毒性是晚发性淀粉样变性和神经退行性的基础

Ridwan Babatunde Ibrahim, Ssu-Yu Yeh, Kon-Ping Lin, Frans Ricardo, Tsyr-Yan Yu, Chih-Chiang Chan, Jin-Wu Tsai, Yo-Tsen Liu3

Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5

台湾遗传性痉挛性截瘫5型患者的临床特征

Chou, Cheng-Ta; Soong, Bing-Wen; Lin, Kon-Ping; Tsai, Yu-Shuen; Jih, Kang-Yang; Liao, Yi-Chu; Lee, Yi-Chung

Hand-onset weakness is a common feature of ALS patients with a NEK1 loss-of-function variant

手部起病的无力是携带NEK1功能缺失变异的ALS患者的常见特征。

Tsai, Yu-Shuen; Lin, Kon-Ping; Jih, Kang-Yang; Tsai, Pei-Chien; Liao, Yi-Chu; Lee, Yi-Chung

Reply to "Use DN4-T to rule out non-neuropathic pain"

回复“使用DN4-T排除非神经性疼痛”

Wang, Yen-Feng; Yang, Chih-Chao; Ro, Long-Sun; Tsai, Yu-Chuan; Lin, Kon-Ping; Sun, Wei-Zen; Fang, Wei-Tse; Wang, Shuu-Jiun

Clinical and genetic profiles of hereditary transthyretin amyloidosis in Taiwan

台湾遗传性转甲状腺素蛋白淀粉样变性的临床和遗传特征

Chao, Hua-Chuan; Liao, Yi-Chu; Liu, Yo-Tsen; Guo, Yuh-Cherng; Chang, Fu-Pang; Lee, Yi-Chung; Lin, Kon-Ping

Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan

台湾汉族人群中夏科-马里-图斯病的突变谱

Hsu, Yun-Hsin; Lin, Kon-Ping; Guo, Yuh-Cherng; Tsai, Yu-Shuen; Liao, Yi-Chu; Lee, Yi-Chung