Výsledky vyhledávání - Liu, Yo-Tsen

Contributions of Animal Models to the Mechanisms and Therapies of Transthyretin Amyloidosis Autor Ibrahim, Ridwan Babatunde, Liu, Yo-Tsen, Yeh, Ssu-Yu, Tsai, Jin-Wu

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Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias Autor Hsiao, Cheng-Tsung, Liu, Yo-Tsen, Liao, Yi-Chu, Hsu, Ting-Yi, Lee, Yi-Chung, Soong, Bing-Wen

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Correction: Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias Autor Hsiao, Cheng-Tsung, Liu, Yo-Tsen, Liao, Yi-Chu, Hsu, Ting-Yi, Lee, Yi-Chung, Soong, Bing-Wen

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Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene Autor Wiethoff, Sarah, Bettencourt, Conceição, Paudel, Reema, Madon, Prochi, Liu, Yo-Tsen, Hersheson, Joshua, Wadia, Noshir, Desai, Joy, Houlden, Henry

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Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease Autor Liao, Yi-Chu, Liu, Yo-Tsen, Tsai, Pei-Chien, Chang, Chia-Ching, Huang, Yen-Hua, Soong, Bing-Wen, Lee, Yi-Chung

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Clinical and genetic profiles of hereditary transthyretin amyloidosis in Taiwan Autor Chao, Hua‐Chuan, Liao, Yi‐Chu, Liu, Yo‐Tsen, Guo, Yuh‐Cherng, Chang, Fu‐Pang, Lee, Yi‐Chung, Lin, Kon‐Ping

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Biophysical characterization and modulation of Transthyretin Ala97Ser Autor Liu, Yo‐Tsen, Yen, Yueh‐Jung, Ricardo, Frans, Chang, Yu, Wu, Pei‐Hao, Huang, Shing‐Jong, Lin, Kon‐Ping, Yu, Tsyr‐Yan

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

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

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

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Clinical and biophysical characterization of 19 GJB1 mutations Autor 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

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PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects Autor 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

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Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy Autor 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

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

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

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

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

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

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Gamma Knife radiosurgery for cerebral cavernous malformation Autor 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.

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A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy Autor 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

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