第 1 到 11 筆結果,共 11 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 | 2021 | Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome | Fan, Sung-Pin; HSUEH-WEN HSUEH ; HSIN-CHIEH HUANG ; Chang, Koping; NI-CHUNG LEE ; PEI-HSIN HUANG ; Yang, Chih-Chao | eNeurologicalSci | 1 | 0 | |
3 | 2021 | Thymidine kinase 2 deficiency-induced adult-onset ptosis and proximal weakness | Cheng, Chang-Yu; Chang, Kai-Chieh; HSUEH-WEN HSUEH ; NI-CHUNG LEE ; PEI-HSIN HUANG ; Chih-Chao Yang ; WUH-LIANG HWU ; SUNG-TSANG HSIEH ; CHI-CHAO CHAO | Neurology: Clinical Practice | 1 | 1 | |
4 | 2021 | A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan | Kuo, Yih-Chih; HSUEH-WEN HSUEH ; Hsueh, Sung-Ju; NI-CHUNG LEE ; MING-JU HSIEH ; CHI-CHAO CHAO ; YIN-HSIU CHIEN ; PEI-HSIN HUANG ; Yang, Chih-Chao | Neuromuscular disorders : NMD | 3 | 3 | |
5 | 2020 | A case of GNE myopathy mimicking hereditary motor neuropathy | Huang Y.-N.; HUNG-JUI CHUANG ; HSUEH-WEN HSUEH ; HSIN-CHIEH HUANG ; NI-CHUNG LEE ; CHI-CHAO CHAO ; PEI-HSIN HUANG ; Lee Y.-C.; Lin K.-P.; Yang C.-C.; SUNG-TSANG HSIEH | European journal of neurology | 4 | 4 | |
6 | 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 | |
7 | 2016 | Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia | Hsiao C.-C.; NI-CHUNG LEE ; PEI-HSIN HUANG ; Tsai T.-H. | Journal of the Formosan Medical Association | 4 | 4 | |
8 | 2012 | Early pathologic changes and responses to treatment in patients with later-onset Pompe disease | YIN-HSIU CHIEN ; NI-CHUNG LEE ; PEI-HSIN HUANG ; WANG-TSO LEE ; Thurberg B.L.; WUH-LIANG HWU | Pediatric Neurology | 20 | 16 | |
9 | 2012 | A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child | Liu H.-M.; Tsai L.-P.; YIN-HSIU CHIEN ; JIA-FENG WU ; WEN-CHIN WENG ; STEVEN SHINN-FORNG PENG ; EN-TING WU ; PEI-HSIN HUANG ; WANG-TSO LEE ; I-JUNG TSAI ; WUH-LIANG HWU ; NI-CHUNG LEE | Pediatrics and Neonatology | 10 | 9 | |
10 | 2009 | Pompe disease in infants: Improving the prognosis by newborn screening and early treatment | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; MEI-HWAN WU ; PEI-HSIN HUANG ; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU | Pediatrics | 182 | 160 | |
11 | 2008 | Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program | YIN-HSIU CHIEN ; Chiang S.-C.; Zhang X.K.; Keutzer J.; NI-CHUNG LEE ; Huang A.-C.; CHUN-AN CHEN ; MEI-HWAN WU ; PEI-HSIN HUANG ; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU | Pediatrics | 207 | 178 |