THAP11 CAG Repeat Expansion Is Rare or Absent in the Taiwanese Cohort with Cerebellar Ataxia
Hsiao, Cheng‐Tsung, Liao, Nai‐Yi, Liao, Yi‐Chu, Lee, Yi‐Chung
Published in Movement disorders (01.05.2024)
Published in Movement disorders (01.05.2024)
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Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles
Liao, Yi-Chu, Hsiao, Cheng-Tsung, Fuh, Jong-Ling, Chern, Chang-Ming, Lee, Wei-Ju, Guo, Yuh-Cherng, Wang, Shuu-Jiun, Lee, I-Hui, Liu, Yo-Tsen, Wang, Yen-Feng, Chang, Feng-Chi, Chang, Ming-Hung, Soong, Bing-Wen, Lee, Yi-Chung
Published in PloS one (26.08.2015)
Published in PloS one (26.08.2015)
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A PIAS1 Protective Variant S510G Delays polyQ Disease Onset by Modifying Protein Homeostasis
Lee, Yan Hua, Tsai, Yu‐Shuen, Chang, Che‐Chang, Ho, Chun‐Chen, Shih, Hsiu‐Ming, Chen, Hui‐Mei, Lai, Hsing‐Lin, Lee, Chia‐Wei, Lee, Yi‐Chung, Liao, Yi‐Chu, Yang, Ueng‐Cheng, Cheng, Tzu‐Hao, Chern, Yijuang, Soong, Bing‐Wen
Published in Movement disorders (01.04.2022)
Published in Movement disorders (01.04.2022)
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Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5
Chen, Pin‐Shiuan, Lee, Ni‐Chung, Sung, Chieh‐Ju, Liu, Ya‐Wen, Weng, Wen‐Chin, Fan, Pi‐Chuan, Lee, Wang‐Tso, Chien, Yin‐Hsiu, Wu, Chao‐Szu, Sung, Yueh‐Feng, Tsai, Ming‐Chen, Lee, Yi‐Chung, Hsueh, Hsueh‐Wen, Fan, Sabrina Mai‐Yi, Wu, Meng‐Chen, Li, Hsun, Chen, Huan‐Yun, Lin, Han‐I, Ou‐Yang, Chih‐Hsin, Hwuh, Wuh‐Liang, Lin, Chin‐Hsien
Published in Movement disorders (01.12.2023)
Published in Movement disorders (01.12.2023)
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Mutations in KCND3 cause spinocerebellar ataxia type 22
Lee, Yi-Chung, Durr, Alexandra, Majczenko, Karen, Huang, Yen-Hua, Liu, Yu-Chao, Lien, Cheng-Chang, Tsai, Pei-Chien, Ichikawa, Yaeko, Goto, Jun, Monin, Marie-Lorraine, Li, Jun Z., Chung, Ming-Yi, Mundwiller, Emeline, Shakkottai, Vikram, Liu, Tze-Tze, Tesson, Christelle, Lu, Yi-Chun, Brice, Alexis, Tsuji, Shoji, Burmeister, Margit, Stevanin, Giovanni, Soong, Bing-Wen
Published in Annals of neurology (01.12.2012)
Published in Annals of neurology (01.12.2012)
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Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization
Lin, Xiang, Jiang, Jun‐Yi, Hong, Dao‐jun, Lin, Kai‐Jun, Li, Jin‐Jing, Chen, Yi‐Jun, Qiu, Yu‐sen, Wang, Zishuai, Liao, Yi‐Chu, Yang, Kang, Shi, Yan, Wang, Meng‐wen, Hsu, Shao‐Lun, Hong, Shunyan, Zeng, Yi‐Heng, Chen, Xiao‐Chun, Wang, Ning, Lee, Yi‐Chung, Chen, Wan‐Jin
Published in Movement disorders (01.01.2024)
Published in Movement disorders (01.01.2024)
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A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy
Tsai, Pei-Chien, Soong, Bing-Wen, Mademan, Inès, Huang, Yen-Hua, Liu, Chia-Rung, Hsiao, Cheng-Tsung, Wu, Hung-Ta, Liu, Tze-Tze, Liu, Yo-Tsen, Tseng, Yen-Ting, Lin, Kon-Ping, Yang, Ueng-Cheng, Chung, Ki Wha, Choi, Byung-Ok, Nicholson, Garth A, Kennerson, Marina L, Chan, Chih-Chiang, De Jonghe, Peter, Cheng, Tzu-Hao, Liao, Yi-Chu, Züchner, Stephan, Baets, Jonathan, Lee, Yi-Chung
Published in Brain (London, England : 1878) (01.05.2017)
Published in Brain (London, England : 1878) (01.05.2017)
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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
Lassuthova, Petra, Rebelo, Adriana P., Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Manganelli, Fiore, Feely, Shawna M., Bacon, Chelsea, Brožková, Dana Šafka, Haberlova, Jana, Mazanec, Radim, Tao, Feifei, Saghira, Cima, Abreu, Lisa, Courel, Steve, Powell, Eric, Buglo, Elena, Bis, Dana M., Baxter, Megan F., Ong, Royston W., Marns, Lorna, Lee, Yi-Chung, Bai, Yunhong, Isom, Daniel G., Barro-Soria, René, Chung, Ki W., Scherer, Steven S., Larsson, H. Peter, Laing, Nigel G., Choi, Byung-Ok, Seeman, Pavel, Shy, Michael E., Santoro, Lucio, Zuchner, Stephan
Published in American journal of human genetics (01.03.2018)
Published in American journal of human genetics (01.03.2018)
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The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan
Lin, Kon-Ping, Soong, Bing-Wen, Yang, Chih-Chao, Huang, Li-Wen, Chang, Ming-Hong, Lee, I-Hui, Antonellis, Anthony, Antonellis, Antony, Lee, Yi-Chung
Published in PloS one (19.12.2011)
Published in PloS one (19.12.2011)
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Highly exfoliated functionalized MoS2 with sodium alginate-polydopamine conjugates for electrochemical sensing of cardio-selective β-blocker by voltammetric methods
Lee, Chung-Yi, Prasannan, Adhimoorthy, Lincy, Varghese, Vetri Selvi, Subash, Chen, Shen−Ming, Hong, Po-Da
Published in Mikrochimica acta (1966) (01.03.2021)
Published in Mikrochimica acta (1966) (01.03.2021)
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Contribution of the APOE Genotype to Cognitive Impairment in Individuals With NOTCH3 Cysteine-Altering Variants
Cheng, Yu-Wen, Liao, Yi-Chu, Chen, Chih-Hao, Chung, Chih-Ping, Fann, Cathy S J, Chang, Chien-Ching, Lee, Yi-Chung, Tang, Sung-Chun
Published in Journal of the American Heart Association (21.11.2023)
Published in Journal of the American Heart Association (21.11.2023)
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Cerebral Microbleed Burdens in Specific Brain Regions Are Associated With Disease Severity of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
Chung, Chih-Ping, Chen, Jiun-Wei, Chang, Feng-Chi, Li, Wei-Chi, Lee, Yi-Chung, Chen, Li-Fen, Liao, Yi-Chu
Published in Journal of the American Heart Association (07.07.2020)
Published in Journal of the American Heart Association (07.07.2020)
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Connectivity features for identifying cognitive impairment in presymptomatic carotid stenosis
Lin, Chun-Jen, Tu, Pei-Chi, Chern, Chang-Ming, Hsiao, Fu-Jung, Chang, Feng-Chi, Cheng, Hsien-Lin, Tang, Chih-Wei, Lee, Yi-Chung, Chen, Wei-Ta, Lee, I-Hui
Published in PloS one (15.01.2014)
Published in PloS one (15.01.2014)
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A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)
McLaughlin, Heather M., Sakaguchi, Reiko, Giblin, William, Wilson, Thomas E., Biesecker, Leslie, Lupski, James R., Talbot, Kevin, Vance, Jeffery M., Züchner, Stephan, Lee, Yi-Chung, Kennerson, Marina, Hou, Ya-Ming, Nicholson, Garth, Antonellis, Anthony
Published in Human mutation (01.01.2012)
Published in Human mutation (01.01.2012)
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Patisiran, an RNAi therapeutic for hereditary transthyretin-mediated amyloidosis: Sub-analysis in Taiwanese patients from the APOLLO study
Lin, Kon-Ping, Yang, Chih-Chao, Lee, Yi-Chung, Lee, Ming-Jen, Vest, John, Sweetser, Marianne T., White, Matthew T., Badri, Prajakta, Hsieh, Sung-Tsang, Chao, Chi-Chao
Published in Journal of the Formosan Medical Association (01.09.2024)
Published in Journal of the Formosan Medical Association (01.09.2024)
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Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia
Chou, Ying-Tsen, Hsu, Shao-Lun, Tsai, Yu-Shuen, Lu, Yi-Jiun, Yu, Kai-Wei, Wu, Hsiu-Mei, Liao, Yi-Chu, Lee, Yi-Chung
Published in Annals of clinical and translational neurology (01.09.2023)
Published in Annals of clinical and translational neurology (01.09.2023)
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