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

por Hsu, Yun‐Hsin, Lin, Kon‐Ping, Guo, Yuh‐Cherng, Tsai, Yu‐Shuen, Liao, Yi‐Chu, Lee, Yi‐Chung
Publicado 2019

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

por Tsai, Yu‐Shuen, Lin, Kon‐Ping, Jih, Kang‐Yang, Tsai, Pei‐Chien, Liao, Yi‐Chu, Lee, Yi‐Chung
Publicado 2020

Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy

por Liao, Yi-Chu, Tsai, Pei-Chien, Lin, Thy-Sheng, Hsiao, Cheng-Tsung, Chao, Nai-Chen, Lin, Kon-Ping, Lee, Yi-Chung
Publicado 2017

Clinical and genetic profiles of hereditary transthyretin amyloidosis in Taiwan

por Chao, Hua‐Chuan, Liao, Yi‐Chu, Liu, Yo‐Tsen, Guo, Yuh‐Cherng, Chang, Fu‐Pang, Lee, Yi‐Chung, Lin, Kon‐Ping
Publicado 2019

Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5

por Chou, Cheng‐Ta, Soong, Bing‐Wen, Lin, Kon‐Ping, Tsai, Yu‐Shuen, Jih, Kang‐Yang, Liao, Yi‐Chu, Lee, Yi‐Chung
Publicado 2020

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

por Tsai, Pei-Chien, Jih, Kang-Yang, Shen, Ting-Yi, Liu, Yi-Hong, Lin, Kon-Ping, Liao, Yi-Chu, Lee, Yi-Chung
Publicado 2021

Biophysical characterization and modulation of Transthyretin Ala97Ser

por Liu, Yo‐Tsen, Yen, Yueh‐Jung, Ricardo, Frans, Chang, Yu, Wu, Pei‐Hao, Huang, Shing‐Jong, Lin, Kon‐Ping, Yu, Tsyr‐Yan
Publicado 2019

The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan

por Lin, Kon-Ping, Soong, Bing-Wen, Yang, Chih-Chao, Huang, Li-Wen, Chang, Ming-Hong, Lee, I-Hui, Antonellis, Antony, Lee, Yi-Chung
Publicado 2011

Correction: The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan

por Lin, Kon-Ping, Soong, Bing-Wen, Yang, Chih-Chao, Huang, Li-Wen, Chang, Ming-Hong, Lee, I-Hui, Antonellis, Anthony, Lee, Yi-Chung
Publicado 2012

A prospective, observational study on conversion of clinically isolated syndrome to multiple sclerosis during 4-year period (MS NEO study) in Taiwan

por Ro, Long-Sun, Yang, Chih-Chao, Lyu, Rong-Kuo, Lin, Kon-Ping, Tsai, Tzung-Chang, Lu, Shiang-Ru, Chang, Kuo-Hsuan, Huang, Li-Chieh, Tsai, Ching-Piao
Publicado 2019

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

por 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
Publicado 2023

PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort

por Lee, Yi-Chung, Lee, Ming-Jen, Yu, Hsiang-Yu, Chen, Chien, Hsu, Chang-Hung, Lin, Kon-Ping, Liao, Kwong-Kum, Chang, Ming-Hong, Liao, Yi-Chu, Soong, Bing-Wen
Publicado 2012

Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy

por Hsiao, Cheng-Tsung, Tsai, Pei-Chien, Lin, Chou-Ching, Liu, Yo-Tsen, Huang, Yen-Hua, Liao, Yi-Chu, Huang, Han-Wei, Lin, Kon-Ping, Soong, Bing-Wen, Lee, Yi-Chung
Publicado 2016

Clinical and biophysical characterization of 19 GJB1 mutations

por Tsai, Pei‐Chien, Yang, De‐Ming, Liao, Yi‐Chu, Chiu, Tai‐Yu, Kuo, Hung‐Chou, Su, Yu‐Ping, Guo, Yuh‐Cherng, Soong, Bing‐Wen, Lin, Kon‐Ping, Liu, Yo‐Tsen, Lee, Yi‐Chung
Publicado 2016