1. Acute simultaneous multiple lacunar infarcts as the initial presentation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Issue 7 (July 2015) Authors: Hsiao, Cheng‐Tsung; Chen, Yun‐Chung; Liu, Yo‐Tsen; Soong, Bing‐Wen; Lee, Yi‐Chung Journal: Journal of the Chinese Medical Association Issue: Volume 78:Issue 7(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biophysical characterization and modulation of Transthyretin Ala97Ser. Issue 10 (10th September 2019) Authors: Liu, Yo‐Tsen; Yen, Yueh‐Jung; Ricardo, Frans; Chang, Yu; Wu, Pei‐Hao; Huang, Shing‐Jong; Lin, Kon‐Ping; Yu, Tsyr‐Yan Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 10(2019) Page Start: 1961 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and biophysical characterization of 19 GJB1 mutations. Issue 11 (1st September 2016) Authors: 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 Journal: Annals of clinical and translational neurology Issue: Volume 3:Issue 11(2016) Page Start: 854 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and genetic profiles of hereditary transthyretin amyloidosis in Taiwan. Issue 5 (9th April 2019) Authors: Chao, Hua‐Chuan; Liao, Yi‐Chu; Liu, Yo‐Tsen; Guo, Yuh‐Cherng; Chang, Fu‐Pang; Lee, Yi‐Chung; Lin, Kon‐Ping Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 5(2019) Page Start: 913 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical characteristics and long‐term outcome of cerebral cavernous malformations‐related epilepsy. Issue 8 (14th June 2022) Authors: Shih, Yen‐Cheng; Chou, Chien‐Chen; Peng, Syu‐Jyun; Yu, Hsiang‐Yu; Hsu, Sanford P. C.; Lin, Chun‐Fu; Lee, Cheng‐Chia; Yang, Huai‐Che; Chen, Yi‐Chieh; Kwan, Shang‐Yeong; Chen, Chien; Wang, Shuu‐Jiun; Lin, Chung‐Jung; Lirng, Jiing‐Feng; Shih, Yang‐Hsin; Yen, Der‐Jen; Liu, Yo‐Tsen Journal: Epilepsia Issue: Volume 63:Issue 8(2022) Page Start: 2056 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Novel lissencephaly‐associated DCX variants in the C‐terminal DCX domain affect microtubule binding and dynamics. Issue 5 (25th February 2022) Authors: Lin, Jun‐Ru; Cheng, Ju‐Fang; Liu, Yo‐Tsen; Hsu, Ting‐Rong; Lin, Kao‐Min; Chen, Chien; Lin, Chia‐Ling; Tsai, Meng‐Han; Tsai, Jin‐Wu Journal: Epilepsia Issue: Volume 63:Issue 5(2022) Page Start: 1253 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Novel SCA19/22‐associated KCND3 mutations disrupt human KV4.3 protein biosynthesis and channel gating. Issue 11 (17th August 2019) Authors: Hsiao, Cheng‐Tsung; Fu, Ssu‐Ju; Liu, Yo‐Tsen; Lu, Yi‐Hsiang; Zhong, Ciao‐Yu; Tang, Chih‐Yung; Soong, Bing‐Wen; Jeng, Chung‐Jiuan Journal: Human mutation Issue: Volume 40:Issue 11(2019) Page Start: 2088 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation. Issue 2 (1st July 2019) Authors: Chelban, Viorica; Wilson, Matthew P.; Warman Chardon, Jodi; Vandrovcova, Jana; Zanetti, M. Natalia; Zamba‐Papanicolaou, Eleni; Efthymiou, Stephanie; Pope, Simon; Conte, Maria R.; Abis, Giancarlo; Liu, Yo‐Tsen; Tribollet, Eloise; Haridy, Nourelhoda A.; Botía, Juan A.; Ryten, Mina; Nicolaou, Pascha... Other Names: Kriouile Yamna investigator.; Khorassani Mohamed El investigator.; Aguennouz Mhammed investigator.; Groppa Stanislav investigator.; Marinova Karashova Blagovesta investigator.; Van Maldergem Lionel investigator.; Nachbauer Wolfgang investigator.; Boesch Sylvia investigator.; Arning Larissa invest... Journal: Annals of neurology Issue: Volume 86:Issue 2(2019) Page Start: 225 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. PRRT2 missense mutations cluster near C‐terminus and frequently lead to protein mislocalization. (13th April 2019) Authors: Tsai, Meng‐Han; Nian, Fang‐Shin; Hsu, Mei‐Hsin; Liu, Wei‐Szu; Liu, Yo‐Tsen; Liu, Chen; Lin, Po‐Hsi; Hwang, Daw‐Yang; Chuang, Yao‐Chung; Tsai, Jin‐Wu Journal: Epilepsia Issue: Volume 60:issue 5(2019) Page Start: 807 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗