第 1 到 12 筆結果,共 12 筆。
公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 | |
---|---|---|---|---|---|---|---|
1 | 2023 | Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5 | Chen, Pin-Shiuan; NI-CHUNG LEE ; Sung, Chieh-Ju; YA-WEN LIU ; WEN-CHIN WENG ; PI-CHUAN FAN ; WANG-TSO LEE ; YIN-HSIU CHIEN ; Wu, Chao-Szu; Sung, Yueh-Feng; Tsai, Ming-Chen; Lee, Yi-Chung; HSUEH-WEN HSUEH ; Fan, Sabrina Mai-Yi; MENG-CHEN WU ; Li, Hsun; Chen, Huan-Yun; Lin, Han-I; Ou-Yang, Chih-Hsin; Hwuh, Wuh-Liang; CHIN-HSIEN LIN | Movement disorders : official journal of the Movement Disorder Society | 2 | 0 | |
2 | 2023 | Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson's Disease in a Taiwanese Population: An 11-Year Follow-Up Study | Fan, Sung-Pin; Kuo, Yih-Chih; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Huang, Yu-Hsuan; Lin, Han-I; TAI-CHUNG TSENG ; TUNG-HUNG SU ; SHIOU-RU TZENG ; Hsu, Chien-Ting; HUEY-LING CHEN ; CHIN-HSIEN LIN ; YEN-HSUAN NI | Journal of Movement Disorders | 2 | ||
3 | 2023 | Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated or combined dystonia | Chen, Pin-Shiuan; MENG-CHEN WU ; CHUN-HWEI TAI ; Chang, Yung-Yee; Lan, Min-Yu; Chen, Ying-Fa; Lin, Han-I; NI-CHUNG LEE ; CHIN-HSIEN LIN | Parkinsonism & related disorders | 1 | 1 | |
4 | 2023 | The MAPT p.P301L mutation presents as a rare early-onset corticobasal syndrome: A case report | Li, Cheng-Hsuan; NI-CHUNG LEE ; Lin, Kun-Ju; Hsiao, Ing-Tsung; Weng, Yi-Hsin; CHIN-HSIEN LIN | NEUROLOGY ASIA | 0 | 0 | |
5 | 2022 | A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome | Chu, Chia-Mei; HSIN-HUI YU ; Kao, Tsai-Ling; Chen, Yi-Hsuan; Lu, Hsuan-Hsuan; EN-TING WU ; Yang, Yun-Li; CHIN-HSIEN LIN ; SHIN-YU LIN ; Tsai, Meng-Ju Melody; YIN-HSIU CHIEN ; WUH-LIANG HWU ; WEN-PIN CHEN ; NI-CHUNG LEE ; CHI-KANG TSENG | NPJ genomic medicine | 2 | 2 | |
6 | 2022 | A case of senile-onset progressive hemiballism and cognitive decline with diffuse brain iron accumulations | Lin I.-T.; NI-CHUNG LEE ; Fan, Sung-Pin; Huang C.-J.; Cheng P.; Chen J.-H.; CHIN-HSIEN LIN | Parkinsonism and Related Disorders | 2 | 1 | |
7 | 2020 | Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy | CHIN-HSIEN LIN ; Tsai, Pei-I; Lin, Han-Yi; Hattori, Nobutaka; Funayama, Manabu; Jeon, Beomseok; Sato, Kota; Abe, Koji; Mukai, Yohei; Takahashi, Yuji; Li, Yuanzhe; Nishioka, Kenya; Yoshino, Hiroyo; Daida, Kensuke; Chen, Meng-Ling; Cheng, Jay; Huang, Cheng-Yen; SHIOU-RU TZENG ; Wu, Yen-Sheng; Lai, Hsing-Jung; Tsai, Hsin-Hsi; RUOH-FANG YEN ; NI-CHUNG LEE ; Lo, Wen-Chun; Hung, Yu-Chien; CHIH-CHIANG CHAN ; Ke, Yi-Ci; CHI-CHAO CHAO ; SUNG-TSANG HSIEH ; Farrer, Matthew; RUEY-MEEI WU | Brain : a journal of neurology | 29 | 32 | |
8 | 2020 | Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene | Fan S.-P.; NI-CHUNG LEE ; CHIN-HSIEN LIN | Journal of the Formosan Medical Association | 12 | 7 | |
9 | 2020 | Novel Phenotype of 6p25 Deletion Syndrome Presenting Juvenile Parkinsonism and Brain Calcification | Fan S.-P.; NI-CHUNG LEE ; CHIN-HSIEN LIN | Movement Disorders | 9 | 9 | |
10 | 2020 | Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort | Chen, Szu-Ju; BO-CHING LEE ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; CHIN-HSIEN LIN | American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics | 0 | 0 | |
11 | 2019 | Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population | Chen S.-J.; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; CHIN-HSIEN LIN | Brain and Behavior | 10 | 7 | |
12 | 2017 | A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: A case study and literature review | Hsueh S.-J.; NI-CHUNG LEE ; SHU-HUA YANG ; Lin H.-I.; CHIN-HSIEN LIN | BMC Neurology | 5 | 5 |