第 1 到 9 筆結果,共 9 筆。
公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 | |
---|---|---|---|---|---|---|---|
1 | 2023 | Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing | Chen, Pin-Shiuan; CHI-CHAO CHAO ; LI-KAI TSAI ; Huang, Hsin-Yi; YIN-HSIU CHIEN ; PEI-HSIN HUANG ; WUH-LIANG HWU ; SUNG-TSANG HSIEH ; NI-CHUNG LEE ; HSUEH-WEN HSUEH ; Chih-Chao Yang | Journal of neuromuscular diseases | 1 | 1 | |
2 | 2020 | Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice | NI-CHUNG LEE ; Peng W.-H.; LI-KAI TSAI ; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; WUH-LIANG HWU ; Tseng W.-Y.I.; YIN-HSIU CHIEN | Scientific Reports | 2 | 2 | |
3 | 2019 | Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency | Ho S.-Y.; YIN-HSIU CHIEN ; LI-KAI TSAI ; Muramatsu S.-I.; WUH-LIANG HWU ; HORNG-HUEI LIOU ; NI-CHUNG LEE | Frontiers in Cellular Neuroscience | 2 | 2 | |
4 | 2019 | Clinical features of Pompe disease with motor neuronopathy | LI-KAI TSAI ; WUH-LIANG HWU ; NI-CHUNG LEE ; PEI-HSIN HUANG ; YIN-HSIU CHIEN | Neuromuscular Disorders | 9 | 7 | |
5 | 2018 | A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice | NI-CHUNG LEE ; WUH-LIANG HWU ; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; LI-KAI TSAI ; YIN-HSIU CHIEN | Molecular Neurobiology | 24 | 27 | |
6 | 2016 | Hypothermia improves disease manifestations in SMA mice via SMN augmentation | LI-KAI TSAI ; Chen C.-L.; Tsai Y.-C.; Ting C.-H.; YIN-HSIU CHIEN ; Lee N.-C.; WUH-LIANG HWU | Human Molecular Genetics | 4 | 4 | |
7 | 2013 | Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C | YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Yang C.C.; NI-CHUNG LEE ; LI-KAI TSAI ; Huang A.C.; Su S.C.; Tseng C.C.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 32 | 34 | |
8 | 2008 | Myopathy in Gaucher disease | LI-KAI TSAI ; YIN-HSIU CHIEN ; Yang C.-C.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 3 | 0 | |
9 | 2007 | Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. | YIN-HSIU CHIEN ; NI-CHUNG LEE ; LI-KAI TSAI ; Huang A.C.; STEVEN SHINN-FORNG PENG ; SHYH-JYE CHEN ; WUH-LIANG HWU | Journal of inherited metabolic disease | 43 | 36 |