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收藏A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes
Kang, You-Ri; Lee, So-Hyun; Lin, Ni-Hsuan; Lee, Seung-Jin; Yang, Ai-Wen; Chandrasekaran, Gopalakrishnan; Kang, Kyung Wook; Jin, Mi Sun; Kim, Myeong-Kyu; Perng, Ming-Der; Choi, Seok-Yong; Nam, Tai-Seung
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收藏Antisense therapy in a rat model of Alexander disease reverses GFAP pathology, white matter deficits, and motor impairment
Hagemann, Tracy L.; Powers, Berit; Lin, Ni-Hsuan; Mohamed, Ahmed F.; Dague, Katerina L.; Hannah, Seth C.; Bachmann, Gemma; Mazur, Curt; Rigo, Frank; Olsen, Abby L.; Feany, Mel B.; Perng, Ming-Der; Berman, Robert F.; Messing, Albee
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收藏Recessively-Inherited Adult-Onset Alexander Disease Caused by a Homozygous Mutation in the GFAP Gene
Fu, Mu-Hui; Chang, Yung-Yee; Lin, Ni-Hsuan; Yang, Ai-Wen; Chang, Chiung-Chih; Liu, Jia-Shou; Peng, Cheng-Huei; Wu, Kay L. H.; Perng, Ming-Der; Lan, Min-Yu
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收藏Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander disease severity
Battaglia, Rachel A.; Beltran, Adriana S.; Delic, Samed; Dumitru, Raluca; Robinson, Jasmine A.; Kabiraj, Parijat; Herring, Laura E.; Madden, Victoria J.; Ravinder, Namritha; Willems, Erik; Newman, Rhonda A.; Quinlan, Roy A.; Goldman, James E.; Perng, Ming-Der; Inagaki, Masaki; Snider, Natasha T.
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收藏Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease
Nam, Tai-Seung; Kim, Jin Hee; Chang, Chi-Hsuan; Yoon, Woong; Jung, Yoon Seok; Kang, Sa-Yoon; Shin, Boo Ahn; Perng, Ming-Der; Choi, Seok-Yong; Kim, Myeong-Kyu
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