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

von Ibrahim, Ridwan Babatunde, Liu, Yo-Tsen, Yeh, Ssu-Yu, Tsai, Jin-Wu
Veröffentlicht in Front Physiol (2019)

Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias

von Hsiao, Cheng-Tsung, Liu, Yo-Tsen, Liao, Yi-Chu, Hsu, Ting-Yi, Lee, Yi-Chung, Soong, Bing-Wen
Veröffentlicht in PLoS One (2017)

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

von Hsiao, Cheng-Tsung, Liu, Yo-Tsen, Liao, Yi-Chu, Hsu, Ting-Yi, Lee, Yi-Chung, Soong, Bing-Wen
Veröffentlicht in PLoS One (2018)

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene

von Wiethoff, Sarah, Bettencourt, Conceição, Paudel, Reema, Madon, Prochi, Liu, Yo-Tsen, Hersheson, Joshua, Wadia, Noshir, Desai, Joy, Houlden, Henry
Veröffentlicht in Cerebellum (2016)

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

von Liao, Yi-Chu, Liu, Yo-Tsen, Tsai, Pei-Chien, Chang, Chia-Ching, Huang, Yen-Hua, Soong, Bing-Wen, Lee, Yi-Chung
Veröffentlicht in PLoS One (2015)

Clinical and genetic profiles of hereditary transthyretin amyloidosis in Taiwan

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

Biophysical characterization and modulation of Transthyretin Ala97Ser

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

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

von 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.
Veröffentlicht 2013

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

von 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
Veröffentlicht in Neuromolecular Med (2015)

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

von 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
Veröffentlicht 2014

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

von 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
Veröffentlicht in PLoS One (2016)

Clinical and biophysical characterization of 19 GJB1 mutations

von 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
Veröffentlicht in Ann Clin Transl Neurol (2016)

PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects

von 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
Veröffentlicht in Oncotarget (2016)

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

von 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
Veröffentlicht 2014

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

von 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
Veröffentlicht 2014

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

von 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
Veröffentlicht in J Neurol Neurosurg Psychiatry (2017)

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

von 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
Veröffentlicht 2012

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

von 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
Veröffentlicht in PLoS One (2015)

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

von 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
Veröffentlicht in Front Neurol (2018)

Gamma Knife radiosurgery for cerebral cavernous malformation

von 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.
Veröffentlicht in Sci Rep (2019)