Contributions of Animal Models to the Mechanisms and Therapies of Transthyretin Amyloidosis

Bằng Ibrahim, Ridwan Babatunde, Liu, Yo-Tsen, Yeh, Ssu-Yu, Tsai, Jin-Wu
Xuất bản năm Front Physiol (2019)

Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias

Bằng Hsiao, Cheng-Tsung, Liu, Yo-Tsen, Liao, Yi-Chu, Hsu, Ting-Yi, Lee, Yi-Chung, Soong, Bing-Wen
Xuất bản năm PLoS One (2017)

Correction: Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias

Bằng Hsiao, Cheng-Tsung, Liu, Yo-Tsen, Liao, Yi-Chu, Hsu, Ting-Yi, Lee, Yi-Chung, Soong, Bing-Wen
Xuất bản năm PLoS One (2018)

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene

Bằng Wiethoff, Sarah, Bettencourt, Conceição, Paudel, Reema, Madon, Prochi, Liu, Yo-Tsen, Hersheson, Joshua, Wadia, Noshir, Desai, Joy, Houlden, Henry
Xuất bản năm Cerebellum (2016)

Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease

Bằng Liao, Yi-Chu, Liu, Yo-Tsen, Tsai, Pei-Chien, Chang, Chia-Ching, Huang, Yen-Hua, Soong, Bing-Wen, Lee, Yi-Chung
Xuất bản năm PLoS One (2015)

Clinical and genetic profiles of hereditary transthyretin amyloidosis in Taiwan

Bằng Chao, Hua‐Chuan, Liao, Yi‐Chu, Liu, Yo‐Tsen, Guo, Yuh‐Cherng, Chang, Fu‐Pang, Lee, Yi‐Chung, Lin, Kon‐Ping
Xuất bản năm Ann Clin Transl Neurol (2019)

Biophysical characterization and modulation of Transthyretin Ala97Ser

Bằng Liu, Yo‐Tsen, Yen, Yueh‐Jung, Ricardo, Frans, Chang, Yu, Wu, Pei‐Hao, Huang, Shing‐Jong, Lin, Kon‐Ping, Yu, Tsyr‐Yan
Xuất bản năm Ann Clin Transl Neurol (2019)

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2

Bằng Murphy, Sinéad M., Ernst, Daniela, Wei, Yu, Laurà, Matilde, Liu, Yo-Tsen, Polke, James, Blake, Julian, Winer, John, Houlden, Henry, Hornemann, Thorsten, Reilly, Mary M.
Được phát hành 2013

Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity

Bằng Ernst, Daniela, Murphy, Sinéad M., Sathiyanadan, Karthik, Wei, Yu, Othman, Alaa, Laurá, Matilde, Liu, Yo-Tsen, Penno, Anke, Blake, Julian, Donaghy, Michael, Houlden, Henry, Reilly, Mary M., Hornemann, Thorsten
Xuất bản năm Neuromolecular Med (2015)

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

Bằng Liu, Yo-Tsen, Hersheson, Joshua, Plagnol, Vincent, Fawcett, Katherine, Duberley, Kate E C, Preza, Elisavet, Hargreaves, Iain P, Chalasani, Annapurna, Laurá, Matilde, Wood, Nick W, Reilly, Mary M, Houlden, Henry
Được phát hành 2014

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

Bằng 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
Xuất bản năm PLoS One (2016)

Clinical and biophysical characterization of 19 GJB1 mutations

Bằng 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
Xuất bản năm Ann Clin Transl Neurol (2016)

PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects

Bằng Liu, Yo-Tsen, Nian, Fang-Shin, Chou, Wan-Ju, Tai, Chin-Yin, Kwan, Shang-Yeong, Chen, Chien, Kuo, Pei-Wen, Lin, Po-Hsi, Chen, Chin-Yi, Huang, Chia-Wei, Lee, Yi-Chung, Soong, Bing-Wen, Tsai, Jin-Wu
Xuất bản năm Oncotarget (2016)

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

Bằng Tucci, Arianna, Liu, Yo-Tsen, Preza, Elisabeth, Pitceathly, Robert D S, Chalasani, Annapurna, Plagnol, Vincent, Land, John M, Trabzuni, Daniah, Ryten, Mina, Jaunmuktane, Zane, Reilly, Mary M, Brandner, Sebastian, Hargreaves, Iain, Hardy, John, Singleton, Andrew B, Abramov, Andrey Y, Houlden, Henry
Được phát hành 2014

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

Bằng Liu, Yo-Tsen, Laurá, Matilde, Hersheson, Joshua, Horga, Alejandro, Jaunmuktane, Zane, Brandner, Sebastian, Pittman, Alan, Hughes, Deborah, Polke, James M., Sweeney, Mary G., Proukakis, Christos, Janssen, John C., Auer-Grumbach, Michaela, Zuchner, Stephan, Shields, Kevin G., Reilly, Mary M., Houlden, Henry
Được phát hành 2014

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease

Bằng Horga, Alejandro, Laurà, Matilde, Jaunmuktane, Zane, Jerath, Nivedita U, González, Michael A, Polke, James, Poh, Roy, Blake, Julian C, Liu, Yo-Tsen, Wiethoff, Sarah, Bettencourt, Conceição, Hanna, Michael G, Houlden, Henry, Brandner, Sebastian, Züchner, Stephan, Shy, Michael E, Reilly, Mary M
Xuất bản năm J Neurol Neurosurg Psychiatry (2017)

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

Bằng Murphy, Sinead M., Laura, Matilde, Fawcett, Katherine, Pandraud, Amelie, Liu, Yo-Tsen, Davidson, Gabrielle L, Rossor, Alexander M, Polke, James M, Castleman, Victoria, Manji, Hadi, Lunn, Michael P T, Bull, Karen, Ramdharry, Gita, Davis, Mary, Blake, Julian C, Houlden, Henry, Reilly, Mary M
Được phát hành 2012

Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles

Bằng 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
Xuất bản năm PLoS One (2015)

Aberrant Sensory Gating of the Primary Somatosensory Cortex Contributes to the Motor Circuit Dysfunction in Paroxysmal Kinesigenic Dyskinesia

Bằng Liu, Yo-Tsen, Chen, Yi-Chieh, Kwan, Shang-Yeong, Chou, Chien-Chen, Yu, Hsiang-Yu, Yen, Der-Jen, Liao, Kwong-Kum, Chen, Wei-Ta, Lin, Yung-Yang, Chen, Rou-Shayn, Jih, Kang-Yang, Lu, Shu-Fen, Wu, Yu-Te, Wang, Po-Shan, Hsiao, Fu-Jung
Xuất bản năm Front Neurol (2018)

Gamma Knife radiosurgery for cerebral cavernous malformation

Bằng Lee, Cheng-Chia, Wang, Wei-Hsin, Yang, Huai-Che, Lin, Chung-Jung, Wu, Hsiu-Mei, Lin, Yen-Yu, Hu, Yong-Sin, Chen, Ching-Jen, Chen, Yu-Wei, Chou, Chien-Chen, Liu, Yo-Tsen, Chung, Wen-Yuh, Shiau, Cheng-Ying, Guo, Wan-Yuo, Hung-Chi Pan, David, Hsu, Sanford P. C.
Xuất bản năm Sci Rep (2019)