Rapamycin Alleviates Protein Aggregates, Reduces Neuroinflammation, and Rescues Demyelination in Globoid Cell Leukodystrophy von Lin, Dar-Shong, Huang, Yu-Wen, Lee, Tsung-Han, Chang, Lung, Huang, Zon-Darr, Wu, Tsu-Yen, Wang, Tuan-Jen, Ho, Che-Sheng

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Impact of Mitochondrial A3243G Heteroplasmy on Mitochondrial Bioenergetics and Dynamics of Directly Reprogrammed MELAS Neurons von Lin, Dar-Shong, Huang, Yu-Wen, Ho, Che-Sheng, Huang, Tung-Sun, Lee, Tsung-Han, Wu, Tsu-Yen, Huang, Zon-Darr, Wang, Tuan-Jen

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Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome von Lin, Dar‐Shong, Chang, Jui‐Hsing, Liu, Hsuan‐Liang, Wei, Chin‐Hung, Yeung, Chun‐Yan, Ho, Che‐Sheng, Shu, Chyong‐Hsin, Chiang, Ming‐Fu, Chuang, Chih‐Kuang, Huang, Yu‐Wen, Wu, Tsu‐Yen, Jian, Yuan‐Ren, Huang, Zon‐Darr, Lin, Shuan‐Pei

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A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family von Lin, Dar-Shong, Yeung, Chun-Yan, Liu, Hsuan-Liang, Ho, Che-Sheng, Shu, Chyong-Hsin, Chuang, Chih-Kuang, Huang, Yu-Wen, Wu, Tsu-Yen, Huang, Zon-Darr, Jian, Yuan-Ren, Lin, Shuan-Pei

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Mitigation of cerebellar neuropathy in globoid cell leukodystrophy mice by AAV-mediated gene therapy von Lin, Dar-Shong, Hsiao, Chung-Der, Lee, Allan Yueh-Luen, Ho, Che-Sheng, Liu, Hsuan-Liang, Wang, Tuen-Jen, Jian, Yuan-Ren, Hsu, Jui-Cheng, Huang, Zon-Darr, Lee, Tsung-Han, Chiang, Ming-Fu

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Pregnancy with concomitant chorangioma and placental vascular malformation with mesenchymal hyperplasia von CHEN, C.-P, CHERN, S.-R, WANG, T.-Y, HUANG, Z.-D, HUANG, M.-C, CHUANG, C.-Y

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Case Report: Pregnancy with concomitant chorangioma and placental vascular malformation with mesenchymal hyperplasia von Chen, Chih-Ping, Chern, Schu-Rern, Wang, Tao-Yeuan, Huang, Zon-Darr, Huang, Ming-Chao, Chuang, Chun-Yu

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Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome von Lin, Dar-Shong, Chang, Jui-Hsing, Liu, Hsuan-Liang, Wei, Chin-Hung, Yeung, Chun-Yan, Ho, Che-Sheng, Shu, Chyong-Hsin, Chiang, Ming-Fu, Chuang, Chih-Kuang, Huang, Yu-Wen, Wu, Tsu-Yen, Jian, Yuan-Ren, Huang, Zon-Darr, Lin, Shuan-Pei

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