1. Ala97Ser mutation is common among ethnic Chinese Malaysians with transthyretin familial amyloid polyneuropathy. (29th March 2019) Authors: Low, Soon Chai; Tan, Cheng Yin; Md Sari, Nor Ashikin; Ahmad-Annuar, Azlina; Wong, Kum Thong; Lin, Kon-Ping; Shahrizaila, Nortina; Tan, Chong Tin; Goh, Khean Jin Journal: Amyloid Issue: Volume 26(2019)Supplement 1 Page Start: 7 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Assessing the NOTCH2NLC GGC repeat expansion in Taiwanese patients with hereditary spastic paraplegia. (March 2022) Authors: Hsu, Shao-Lun; Jih, Kang-Yang; Lin, Kon-Ping; Liao, Yi-Chu; Lee, Yi-Chung Journal: Parkinsonism & related disorders Issue: Volume 96(2022) Page Start: 43 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy. Issue 1 (December 2017) Authors: Liao, Yi-Chu; Tsai, Pei-Chien; Lin, Thy-Sheng; Hsiao, Cheng-Tsung; Chao, Nai-Chen; Lin, Kon-Ping; Lee, Yi-Chung Journal: Scientific reports Issue: Volume 7:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Development and validation of a Taiwan version of the DN4-T questionnaire. Issue 8 (August 2019) Authors: Wang, Yen-Feng; Yang, Chih-Chao; Ro, Long-Sun; Tsai, Yu-Chuan; Lin, Kon-Ping; Sun, Wei-Zen; Fang, Wei-Tse; Wang, Shuu-Jiun Journal: Journal of the Chinese Medical Association Issue: Volume 82:Issue 8(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic and Functional Analysis of Glycosyltransferase 8 Domain–Containing Protein 1 in Taiwanese Patients With Amyotrophic Lateral Sclerosis. (3rd December 2021) Authors: Tsai, Pei-Chien; Jih, Kang-Yang; Shen, Ting-Yi; Liu, Yi-Hong; Lin, Kon-Ping; Liao, Yi-Chu; Lee, Yi-Chung Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genetic and Functional Analysis of Glycosyltransferase 8 Domain–Containing Protein 1 in Taiwanese Patients With Amyotrophic Lateral Sclerosis. (December 2021) Authors: Tsai, Pei-Chien; Jih, Kang-Yang; Shen, Ting-Yi; Liu, Yi-Hong; Lin, Kon-Ping; Liao, Yi-Chu; Lee, Yi-Chung Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies. (11th January 2022) Authors: Liao, Yi-Chu; Chang, Fu-Pang; Huang, Han-Wei; Chen, Ting-Bing; Chou, Ying-Tsen; Hsu, Shao-Lun; Jih, Kang-Yang; Liu, Yi-Hong; Hsiao, Cheng-Tsung; Fukukda, Hiromi; Mizuguchi, Takeshi; Lin, Kon-Ping; Lin, Chou-Ching K.; Matsumoto, Naomichi; Kennerson, Marina; Lee, Yi-Chung Journal: Neurology Issue: Volume 98:Number 2(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Investigating KIF1A mutations in a Taiwanese cohort with hereditary spastic paraplegia. (October 2022) Authors: Hsu, Shao-Lun; Liao, Yi-Chu; Lin, Kon-Ping; Lin, Po-Yu; Yu, Kai-Wei; Tsai, Yu-Shuen; Guo, Yuh-Cherng; Lee, Yi-Chung Journal: Parkinsonism & related disorders Issue: Volume 103(2022) Page Start: 144 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Investigating TBP CAG/CAA trinucleotide repeat expansions in a Taiwanese cohort with ALS. Issue 5 (3rd July 2021) Authors: Jih, Kang-Yang; Lin, Kon-Ping; Tsai, Pei-Chien; Soong, Bing-Wen; Liao, Yi-Chu; Lee, Yi-Chung Journal: Amyotrophic lateral sclerosis and frontotemporal degeneration Issue: Volume 22:Issue 5/6(2021) Page Start: 442 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study. Issue 1 (January 2021) Authors: Adams, David; Polydefkis, Michael; González-Duarte, Alejandra; Wixner, Jonas; Kristen, Arnt V; Schmidt, Hartmut H; Berk, John L; Losada López, Inés Asunción; Dispenzieri, Angela; Quan, Dianna; Conceição, Isabel M; Slama, Michel S; Gillmore, Julian D; Kyriakides, Theodoros; Ajroud-Driss, Senda; Wa... Journal: Lancet neurology Issue: Volume 20:Issue 1(2021) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗