Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关概念视频

Myasthenia Gravis: Diagnostic Tests01:15

Myasthenia Gravis: Diagnostic Tests

Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same author

Potential role of Akkermansia massiliensis in multiple sclerosis protection by the FcRL3 gene.

Genes and immunity·2026
Same author

Preventing frailty in multiple sclerosis is a realistic goal-Commentary.

Multiple sclerosis (Houndmills, Basingstoke, England)·2026
Same author

Profiling the long-term risk of severe adverse events in a cohort of multiple sclerosis patients treated with different treatment sequences: Results from the Italian Multiple Sclerosis and Related Disorders Registry (I-MS&RD) (ProSA study).

Multiple sclerosis (Houndmills, Basingstoke, England)·2026
Same author

Predictive factors of response to anti-CGRP pathway drugs in people with multiple sclerosis.

The journal of headache and pain·2026
Same author

Quality of life domains revised by people with multiple sclerosis and healthcare professionals for adaptive measure development.

PloS one·2026
Same author

A predictive tool for early treatment escalation after initiation of moderate-efficacy therapy in pediatric-onset multiple sclerosis.

Multiple sclerosis (Houndmills, Basingstoke, England)·2026

相关实验视频

Updated: May 8, 2026

A High Throughput, Multiplexed and Targeted Proteomic CSF Assay to Quantify Neurodegenerative Biomarkers and Apolipoprotein E Isoforms Status
07:08

A High Throughput, Multiplexed and Targeted Proteomic CSF Assay to Quantify Neurodegenerative Biomarkers and Apolipoprotein E Isoforms Status

Published on: October 20, 2016

7.9K

在Charcot-Marie-Tooth (CMT) 患者的代谢特征评估:新的潜在生物标志物

Federica Murgia1,2, Martina Cadeddu3, Jessica Frau4

  • 1Department of Biomedical Sciences, Clinical Metabolomics Unit, University of Cagliari, 09042 Cagliari, Italy.

Metabolites
|August 27, 2025
PubMed
概括

代谢分析成功地发现了9种不同的代谢物,使夏科特-玛丽-图斯 (CMT) 患者与健康个体有所区别. 这一发现强调了代谢学作为开发新型CMT疾病生物标志物的有希望的工具.

关键词:
查尔科特玛丽牙病生物标志物代谢途径代谢学核磁共振

更多相关视频

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
07:43

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons

Published on: January 7, 2019

7.0K
Identification and Quantification of Deranged Metabolites in Critically Ill Patients Using NMR-Based Metabolomics
11:02

Identification and Quantification of Deranged Metabolites in Critically Ill Patients Using NMR-Based Metabolomics

Published on: November 29, 2024

644

相关实验视频

Last Updated: May 8, 2026

A High Throughput, Multiplexed and Targeted Proteomic CSF Assay to Quantify Neurodegenerative Biomarkers and Apolipoprotein E Isoforms Status
07:08

A High Throughput, Multiplexed and Targeted Proteomic CSF Assay to Quantify Neurodegenerative Biomarkers and Apolipoprotein E Isoforms Status

Published on: October 20, 2016

7.9K
Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
07:43

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons

Published on: January 7, 2019

7.0K
Identification and Quantification of Deranged Metabolites in Critically Ill Patients Using NMR-Based Metabolomics
11:02

Identification and Quantification of Deranged Metabolites in Critically Ill Patients Using NMR-Based Metabolomics

Published on: November 29, 2024

644

科学领域:

  • 生物医学研究
  • 神经科学
  • 代谢学

背景情况:

  • 查科-玛丽-牙 (CMT) 是一种遗传性外周神经系统疾病,目前没有治疗方法.
  • 影响髓化蛋白的遗传变异和环境因素有助于CMT.
  • 代谢学为发现神经退行性疾病的生物标志物提供了一种新方法.

研究的目的:

  • 评估Charcot-Marie-Tooth (CMT) 患者的新陈代谢情况.
  • 确定CMT疾病的潜在代谢生物标志物.

主要方法:

  • 分析了22名CMT患者和26名健康对照者的血清样本.
  • 用核磁共振 (NMR) 光谱进行了代谢分析.
  • 进行了多变量和单变量统计分析.

主要成果:

  • 一个受监督的模型清楚地区分了CMT患者和对照组 (Q2=0. 4, p=0.0004).
  • 鉴定出9种显著不同的代谢物:二甲酸,三甲酸,三甲酸,胆,酸盐,谷氨酸,异黄素,氨酸和甲基酸.
  • 综合的ROC曲线显示了高的诊断准确度 (AUC=0. 94).

结论:

  • 在评估CMT患者时,Metabolomics是有效的.
  • 这项研究确定了CMT疾病的新生物标志物.
  • 这些发现代表了开发CMT诊断工具的前途.