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Acute Respiratory Failure Is the Initial Manifestation in the Adult-Onset A3243G tRNALeu mtDNA Mutation: A Case Report and the Literature Review
期刊论文
FRONTIERS IN NEUROLOGY, 2019, 卷号: 10
作者:
Pan, Xiaoli
;
Wang, Lijun
;
Fei, Guoqiang
;
Dong, Jihong
;
Zhong, Chunjiu
收藏
  |  
浏览/下载:37/0
  |  
提交时间:2019/12/05
mitochondrial myopathy
A3243G mutation
respiratory failure
mtDNA
sedative drug
Activated mTOR signaling pathway in myofibers with inherited metabolic defect might be an evidence for mTOR inhibition therapies
期刊论文
CHINESE MEDICAL JOURNAL, 2019, 卷号: 132, 期号: 7, 页码: 805-810
作者:
Lyu, Jing-Wei
;
Xu, Xue-Bi
;
Ji, Kun-Qian
;
Zhang, Na
;
Sun, Yuan
收藏
  |  
浏览/下载:106/0
  |  
提交时间:2019/12/11
mTOR pathway
Mitochondrial myopathy
Lipid storage disease
Pompe
disease
Neurogenic Muscle Biopsy Findings Are Common in Mitochondrial Myopathy
期刊论文
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2019, 卷号: 78, 期号: 6, 页码: 508-514
作者:
Lu, Jian-Qiang
;
Mubaraki, Adnan
;
Yan, Chuanzhu
;
Provias, John
;
Tarnopolsky, Mark A.
收藏
  |  
浏览/下载:13/0
  |  
提交时间:2019/12/11
Denervation atrophy
Fiber type grouping
Mitochondrial disease
Mitochondrial myopathy
Neurogenic features
Neuropathy
Type 2 fiber
predominance
Isolated mitochondrial myopathy is common presentation in A3243G-related mitochondrial diseases
会议论文
24th International Annual Congress of the World-Muscle-Society (WMS), OCT 01-05, 2019
作者:
Ji, K.
;
Yan, C.
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/31
Intra-mitochondrial lipofuscin accumulation with spherical dense body formation in mitochondrial myopathy
会议论文
95th Annual Meeting of the American-Association-of-Neuropathologists-Inc, JUN 06-09, 2019
作者:
Lu, Jian-Qiang
;
Hawke, Thomas
;
Yan, Chuanzhu
;
Tarnopolsky, Mark
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2019/12/31
Case report: lactic acidosis and rhabdomyolysis during telbivudine and tenofovir treatment for chronic hepatitis B
期刊论文
BMC GASTROENTEROLOGY, 2018, 卷号: 18
作者:
Huang, Yu-Xian
;
Ying, Yue
;
Hu, Yue-Kai
;
Jin, Jia-Lin
;
Zhang, Ji-Ming
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/05
Lactic acidosis
Rhabdomyolysis
Mitochondrial toxicity
Myopathy
Telbivudine
Tenofovir
Determination of telbivudine in the plasma of chronic hepatitis B patients in long-term treatment by high-performance liquid chromatographic-tandem mass spectrometry
期刊论文
BIOMEDICAL CHROMATOGRAPHY, 2018, 卷号: 32, 期号: 4
作者:
Chen, Bicui
;
Chen, Li
;
Cheng, Cai
;
Zhong, Mingkang
;
Shi, Xiaojin
收藏
  |  
浏览/下载:10/0
  |  
提交时间:2019/12/05
creatine kinase
mitochondrial toxicity
myopathy
pharmacokinetics
quantitation
telbivudine
Hypercapnic respiratory failure is common presentation in A3243G-related mitochondriaL myopathy
会议论文
23rd International Annual Congress of the World-Muscle-Society (WMS), OCT 02-06, 2018
作者:
Zhao, Y.
;
Yan, C.
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/31
Case report: perioperative management of caesarean section for a parturient with mitochondrial myopathy
期刊论文
BMC ANESTHESIOLOGY, 2017, 卷号: 17
作者:
Zheng, Qiang
;
Wei, Penghui
;
Zhou, Jinfeng
;
Zhou, Haipeng
;
Ji, Fucheng
收藏
  |  
浏览/下载:8/0
  |  
提交时间:2019/12/11
Mitochondrial myopathy
Caesarean section
Parturient
Pseudouridine: the fifth RNA nucleotide with renewed interests
期刊论文
CURRENT OPINION IN CHEMICAL BIOLOGY, 2016
Li, Xiaoyu
;
Ma, Shiqing
;
Yi, Chengqi
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2017/12/04
LINKED DYSKERATOSIS-CONGENITA
SIDEROBLASTIC ANEMIA MLASA
MESSENGER-RNA
RIBOSOMAL-RNA
U2 SNRNA
MITOCHONDRIAL MYOPATHY
MISSENSE MUTATION
MASS-SPECTROMETRY
HUMAN-CELLS
TRANSLATION
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