Detalhe da pesquisa
1.
Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5.
Mov Disord
; 38(12): 2217-2229, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37752895
2.
Concomitant Sympathetic and Parasympathetic Dysfunction after Acute Ischemic Stroke.
Acta Neurol Taiwan
; 31(4): 174-178, 2022 Dec 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35470411
3.
Eye-of-Tiger Sign in Globus Pallidus: A Novel Radiological Feature of Spinocerebellar Ataxia Type 28.
Mov Disord
; 36(9): 2200-2202, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34156101
4.
Determination of immunosuppressive drugs in human urine and serum by surface-assisted laser desorption/ionization mass spectrometry with dispersive liquid-liquid microextraction.
Anal Bioanal Chem
; 408(2): 629-37, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26521180
5.
Generation of a human induced pluripotent stem cell line NTUHi004-A from a patient with Leigh syndrome harboring a homozygous missense mutation c.836 T > G (p.Met279Arg) in NDUFAF5 gene.
Stem Cell Res
; 76: 103379, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38458030
6.
Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation.
Ann Clin Transl Neurol
; 2024 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38650104
7.
Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated or combined dystonia.
Parkinsonism Relat Disord
; 107: 105294, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36657279
8.
Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.
J Neuromuscul Dis
; 10(4): 667-684, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37066920
9.
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra-Familial Heterogeneity.
Mov Disord Clin Pract
; 8(7): 1116-1122, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34631948
10.
Detection of posaconazole by surface-assisted laser desorption/ionization mass spectrometry with dispersive liquid-liquid microextraction.
J Am Soc Mass Spectrom
; 26(3): 530-3, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25560988