E-LIB Suche - Ergebnisse für: Hsiao, Cheng-Tsung

1

A missense mutation in human INSC causes peripheral neuropa..:

Yeh, Jui-Yu ; Chao, Hua-Chuan ; Hong, Cheng-Li...
EMBO Molecular Medicine. 16 (2024) 5 - p. 1091-1114 , 2024

2

Reply to: Mitochondrial disorders are not spinocerebellar a..:

Hsiao, Cheng-Tsung ; Liao, Nai-Yi ; Lee, Yi-Chung
Journal of the Formosan Medical Association. 122 (2023) 9 - p. 967 , 2023

Link: https://doi.org/10.1016/..

3

Identification of m.3243A>G mitochondrial DNA mutation in p..:

Liao, Nai-Yi ; Lai, Kuan-Lin ; Liao, Yi-Chu..
Journal of the Formosan Medical Association. 122 (2023) 10 - p. 1028-1034 , 2023

Link: https://doi.org/10.1016/..

4

Clinical and genetic characterization of NEFL-related neuro..:

Chao, Hua-Chuan ; Hsiao, Cheng-Tsung ; Lai, Kuan-Lin...
Journal of the Formosan Medical Association. 122 (2023) 2 - p. 132-138 , 2023

Link: https://doi.org/10.1016/..

5

GGC Repeat Expansion ofNOTCH2NLCin Taiwanese Patients With ..:

Liao, Yi-Chu ; Chang, Fu-Pang ; Huang, Han-Wei...
Neurology. 98 (2022) 2 - p. , 2022

Link: https://doi.org/10.1212/..

6

Novel KCND3 Variant Underlying Nonprogressive Congenital At..:

Zanni, Ginevra ; Hsiao, Cheng-Tsung ; Fu, Ssu-Ju...
International Journal of Molecular Sciences. 22 (2021) 9 - p. 4986 , 2021

Link: https://doi.org/10.3390/..

7

Investigating ABCD1 mutations in a Taiwanese cohort with he..:

Hsu, Shao-Lun ; Chen, Ying-Hao ; Chou, Cheng-Ta...
Parkinsonism & Related Disorders. 92 (2021) - p. 7-12 , 2021

Link: https://doi.org/10.1016/..

8

Rare Gain-of-Function KCND3 Variant Associated with Cerebel..:

Hsiao, Cheng-Tsung ; Tropea, Thomas F. ; Fu, Ssu-Ju...
International Journal of Molecular Sciences. 22 (2021) 15 - p. 8247 , 2021

Link: https://doi.org/10.3390/..

9

Regulation of ClC-2 Chloride Channel Proteostasis by Molecu..:

Fu, Ssu-Ju ; Hu, Meng-Chun ; Hsiao, Cheng-Tsung...
International Journal of Molecular Sciences. 22 (2021) 11 - p. 5859 , 2021

Link: https://doi.org/10.3390/..

10

Defective Gating and Proteostasis of Human ClC-1 Chloride C..:

Jeng, Chung-Jiuan ; Fu, Ssu-Ju ; You, Chia-Ying...
Frontiers in Neurology. 11 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

11

CUL4-DDB1-CRBN E3 Ubiquitin Ligase Regulates Proteostasis o..:

Fu, Ssu-Ju ; Hu, Meng-Chun ; Peng, Yi-Jheng...
Cells. 9 (2020) 6 - p. 1332 , 2020

Link: https://doi.org/10.3390/..

12

Investigating PUM1 mutations in a Taiwanese cohort with cer..:

Lai, Kuan-Lin ; Liao, Yi-Chu ; Tsai, Pei-Chien...
Parkinsonism & Related Disorders. 66 (2019) - p. 220-223 , 2019

Link: https://doi.org/10.1016/..

13

Correction: Mutational analysis of ITPR1 in a Taiwanese coh..:

Hsiao, Cheng-Tsung ; Liu, Yo-Tsen ; Liao, Yi-Chu...
PLOS ONE. 13 (2018) 2 - p. e0192866 , 2018

Link: https://doi.org/10.1371/..

14

Unmasking adrenoleukodystrophy in a cohort of cerebellar at..:

Chen, Ying-Hao ; Lee, Yi-Chung ; Tsai, Yu-Shuen...
PLOS ONE. 12 (2017) 5 - p. e0177296 , 2017

Link: https://doi.org/10.1371/..

15

A recurrent WARS mutation is a novel cause of autosomal dom..:

Tsai, Pei-Chien ; Soong, Bing-Wen ; Mademan, Inès...
Brain. 140 (2017) 5 - p. 1252-1266 , 2017

Link: https://doi.org/10.1093/..