Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias

Por Hsiao, Cheng-Tsung, Liu, Yo-Tsen, Liao, Yi-Chu, Hsu, Ting-Yi, Lee, Yi-Chung, Soong, Bing-Wen
Publicado no PLoS One (2017)

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene

Por Wiethoff, Sarah, Bettencourt, Conceição, Paudel, Reema, Madon, Prochi, Liu, Yo-Tsen, Hersheson, Joshua, Wadia, Noshir, Desai, Joy, Houlden, Henry
Publicado no Cerebellum (2016)

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

Por Liao, Yi-Chu, Liu, Yo-Tsen, Tsai, Pei-Chien, Chang, Chia-Ching, Huang, Yen-Hua, Soong, Bing-Wen, Lee, Yi-Chung
Publicado no PLoS One (2015)

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

Por 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.
Publicado em 2013

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

Por 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
Publicado no Neuromolecular Med (2015)

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

Por 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
Publicado em 2014

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

Por 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
Publicado no PLoS One (2016)

Clinical and biophysical characterization of 19 GJB1 mutations

Por 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
Publicado no Ann Clin Transl Neurol (2016)

PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects

Por 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
Publicado no Oncotarget (2016)

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

Por 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
Publicado em 2014

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

Por 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
Publicado em 2014

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

Por 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
Publicado no J Neurol Neurosurg Psychiatry (2017)

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

Por 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
Publicado em 2012

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

Por 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
Publicado no PLoS One (2015)

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders

Por Baets, Jonathan, Duan, Xiaohui, Wu, Yanhong, Smith, Gordon, Seeley, William W., Mademan, Inès, McGrath, Nicole M., Beadell, Noah C., Khoury, Julie, Botuyan, Maria-Victoria, Mer, Georges, Worrell, Gregory A., Hojo, Kaori, DeLeon, Jessica, Laura, Matilde, Liu, Yo-Tsen, Senderek, Jan, Weis, Joachim, Van den Bergh, Peter, Merrill, Shana L., Reilly, Mary M., Houlden, Henry, Grossman, Murray, Scherer, Steven S., De Jonghe, Peter, Dyck, Peter J., Klein, Christopher J.
Publicado no Brain (2015)