Resultados de búsqueda - Liu, Yo-Tsen

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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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