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收藏SOD1 mutations in Taiwanese ALS patients: Clinical characteristics, frequency, and a p.T138R founder effect
Jih, Kang-Yang; Tsai, Yu-Sheun; Fang, Shih-Yu; Hsu, Fang-Chi; Sytwu, Hou-Ping; Liao, Yi-Chu; Tsai, Pei-Chien; Lee, Yi-Chung
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收藏A fly model of SCA36 reveals combinatorial neurotoxicity of hexanucleotide and dipeptide repeatsSCA36的果蝇模型揭示了六核苷酸和二肽重复的协同神经毒性
Hsiao, Cheng-Tsung; Fu, Ssu-Ju; Guo, Ting-Ni; Lin, Chia-Chi; Tsao, Yu-Jung; Chang, Wenying; Liao, Yi-Chu; Hashimoto, Masayuki; Huang, Shu-Yi; Lee, Yi-Chung; Yu, Chien-Hung; Chan, Chih-Chiang
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收藏Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic ParaplegiaCPT1C基因中的失活功能变异:不支持其在遗传性痉挛性截瘫中的因果作用
Zhu, Rui; Liu, Lang; Estiar, Mehrdad A.; Asayesh, Farnaz; Ahmad, Jamil; Teferra, Meron; Yoon, Grace; Tarnopolsky, Mark; Boycott, Kym M.; Dupre, Nicolas; Dion, Patrick A.; Suchowersky, Oksana; Jordanova, Albena; Lee, Yi-Chung; Stevanin, Giovanni; Zuchner, Stephan; Rouleau, Guy A.; Gan-Or, Ziv
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收藏Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD由于SORD基因突变导致的Charcot-Marie-Tooth疾病的基因型与表型谱
Cortese, Andrea; Dohrn, Maike F.; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J.; Fernandez-Eulate, Gorka; Haddad, Saif; Laura, Matilde; Rossor, Alexander M.; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N.; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F.; Achenbach, Pascal; Schone, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D.; Winter, Natalie; Creigh, Peter D.; Sowden, Janet E.; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K. L.; Brennan, Kathryn M.; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R.; Kennerson, Marina L.; Kayserili, Hulya; Amado, Defne A.; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J.; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C.; Lee, Yi-Chung; Basak, Ayse N.; Hamed, Sherifa A.; Rojas-Garcia, Ricardo; Claeys, Kristl G.; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N.; Scherer, Steven S.; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E.; Zuchner, Stephan
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收藏PIAS1 S510G variant acts as a genetic modifier of spinocerebellar ataxia type 3 by selectively impairing mutant ataxin-3 proteostasis
Chang, Yi-Ching; Tsai, Yao-Chou; Chang, En-Cheng; Hsu, Yu-Chien; Huang, Yi-Ru; Lee, Yan-Hua; Tsai, Yu-Shuen; Chen, Yin-Quan; Lee, Yi-Chung; Liao, Yi-Chu; Kuo, Jean-Cheng; Su, Ming-Tsan; Yang, Ueng-Cheng; Chern, Yijuang; Cheng, Tzu-Hao
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收藏Blended Phenotype of NOTCH3 and RNF213 Variants With Accelerated Large and Small Artery Crosstalk
Saito, Satoshi; Hosoki, Satoshi; Yamaguchi, Eriko; Ishiyama, Hiroyuki; Abe, Soichiro; Yoshimoto, Takeshi; Tanaka, Tomotaka; Hattori, Yorito; Liao, Yi Chu; Lee, Yi-Chung; Mizuta, Ikuko; Mizuno, Toshiki; Ihara, Masafumi
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