云南高校图书馆联盟文献共享服务平台- CHARCOT-MARIE-TOOTH

CHARCOT-MARIE-TOOTH: 作品数：22被引量：20H指数：3; 导出分析报告; 相关领域：医药卫生生物学更多>>; 相关作者：袁云乔晓会栾兴华张成王朝霞更多>>; 相关机构：北京大学第一医院首都医科大学北京协和医学院北京协和医院更多>>; 相关期刊：《临床儿科杂志》《Neuroscience Bulletin》《Asian Journal of Andrology》《Open Journal of Anesthesiology》更多>>; 相关基金：国家自然科学基金美国中华医学基金更多>>

Drosophila models used to simulate human ATP1A1 gene mutations that cause Charcot-Marie-Tooth type 2 disease and refractory seizures: 《Neural Regeneration Research》2025年第1期265-276,共12页Yao Yuan Lingqi Yu Xudong Zhuang Dongjing Wen Jin He Jingmei Hong Jiayu Xie Shengan Ling Xiaoyue Du Wenfeng Chen Xinrui Wang; supported by the Natural Science Foundation of Fujian Province,No.2020J02027;the National Natural Science Foundation of China,No.31970461;the Foundation of NHC Key Laboratory of Technical Evaluation of Fertility Regulation for Non-human Primate,Fujian Maternity and Child Health Hospital,No.2022-NHP-05(all to WC).; Certain amino acids changes in the human Na^(+)/K^(+)-ATPase pump,ATPase Na^(+)/K^(+)transporting subunit alpha 1(ATP1A1),cause Charcot-Marie-Tooth disease type 2(CMT2)disease and refractory seizures.To develop in viv...; 关键词：ATP1A1 Atpα bang-sensitive paralysis Charcot-Marie-Tooth disease type 2 CRISPR/Cas9 homology-directed repair Na^(+)/K^(+)-ATPase point mutation seizures sodium pump

Knockdown of SIRT2 Rescues YARS-induced Charcot-Marie-Tooth Neuropathy in Drosophila: 《Neuroscience Bulletin》2024年第4期539-543,共5页Xuedong Li Mengrong Wang Xiang Gao Chenyu Li Chunyu Chen Yun Qi Ying Wan Wei Yu; supported by the National Natural Science Foundation of China(32370825,92249302,92049301,31821002);the Hubei Provincial Natural Science Foundation 2020CFB668.; Dear Editor,Charcot-Marie-Tooth disease,the most common inherited peripheral neuropathology,is highly heterogeneous among patients and associated with mutations in~100 different genes at an incidence of at least 1:2,5...; 关键词：Marie DEGENERATION PATHOLOGY

Charcot-Marie-Tooth-1A and sciatic nerve crush rat models:insights from proteomics: 《Neural Regeneration Research》2023年第6期1354-1363,共10页Zeina Msheik Stephanie Durand Emilie Pinault Martial Caillaud Laetitia Vignaud Fabrice Billet Mohamed El Massry Alexis Desmoulière; supported by a doctoral fellowship from the European Union(European Regional Development Fund).; The sensorimotor and histological aspects of peripheral neuropathies were already studied by our team in two rat models:the sciatic nerve crush and the Charcot-Marie-Tooth-1A disease.In this study,we sought to highlig...; 关键词：Charcot-Marie-Tooth-1A endoplasmic reticulum Gene Ontology NEUROGENESIS oxidative stress PROTEOMICS rat repair sciatic nerve crush SWATH-MS

Charcot-Marie-Tooth病2S型合并重度僵硬性脊柱侧凸1例及文献复习: 《中华骨与关节外科杂志》2022年第5期373-376,共4页焦洋梁锦前林嘉琛冯尔维王振赵俊铎沈建雄; Charcot-Marie-Tooth病(Charcot-Marie-Tooth disease,CMT),又称进行性神经性腓骨肌萎缩症,亦称遗传性运动感觉周围神经病,发病率约为2/10000[1]。CMT具有遗传异质性,迄今已发现多种致病基因[2]。依据临床表现及遗传学特点,分为8种类型...; 关键词：Charcot-Marie-Tooth综合征脊柱侧凸诊断治疗

个体化手术治疗遗传性运动感觉神经病引起的柔韧性高弓内翻足: 《中国临床研究》2021年第2期208-212,共5页白文博李贵民鹿军梁晓军徐军奎; 目的评估个体化手术方案对于遗传性运动感觉神经病(HMSN)引起的柔韧性高弓内翻足的临床疗效。方法回顾性分析足踝外科2013年4月至2019年3月收治的HMSN柔韧性高弓内翻足患者共17例(26足)的临床资料,患足均采用个体化的软组织手术(松解、...; 关键词：遗传性运动感觉神经病 Charcot-Marie-Tooth疾病高弓内翻足个体化手术

Charcot-Marie-Tooth合并重症肌无力两例: 《中国神经免疫学和神经病学杂志》2019年第5期382-383,共2页胡又方管宇宙谭颖吴双丁青云崔丽英; 1 病例报告病例1:患者男,22岁,货运司机。以“疲劳后双睑下垂18年”于2015年7月就诊。患者3岁无明显诱因出现右侧眼睑下垂,症状呈波动性,晨轻暮重,就诊于当地医院,查血清乙酰胆碱受体抗体增高(资料不详),新斯的明试验阳性,当地诊断为...; 关键词：重症肌无力夏科-马里-图斯病

Anejaculation in a patient with Charcot-Marie-Tooth: 《Asian Journal of Andrology》2018年第5期529-530,共2页Rossella Cannarella Giovanni Burgio Sandro La Vignera Enzo S Vicari Aldo E Calogero; Dear Editor,The occurrence of delayed ejaculation or ane）aculation has been previously suggested in patients with Charcot-Marie-Tooth （CMT） syndrome.1 Despite this, such disorder is rarely investigated and may be u...

The Role of Orthotic Service in Modern Rehabilitation of Patients with Charcot-Marie-Tooth Disease: 《Journal of Biosciences and Medicines》2018年第7期23-34,共12页Olga V. Petryaeva Natalia A. Shnayder Ivan P. Artyukhov Margarita R. Sapronova Irina O. Loginova; Charcot-Marie-Tooth (CMT) disease, which encompasses several hereditary motor and sensory neuropathies, is one of the most common neuro-muscular disorders. 80% of patients having CMT disease are diagnosed with per cav...; 关键词：CHARCOT-MARIE-TOOTH Disease (CMT) Habilitation REHABILITATION Heredi-tary Sensori-Motor NEUROPATHIES (HSMN) CONTRACTURES ORTHOSIS Demye-linating Diseases (DMD) Orthotic Management Ankle-Foot ORTHOSES (AFOs)

Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth被引量：3: 《Chinese Medical Journal》2018年第2期151-155,共5页Xin Zhao Ming-Ming Jiang Yi-Zhou Yan Lei Liu Yong-Zhi Xie Xiao-Bo Li Zheng-Mao Hu Xiao-Hong Zi Kun Xia Bei-Sha Tang Ru-Xu Zhang; Background： SH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive （AR） Charcot-Marie-Tooth （CMT） disease type 1, autosomal dominant （AD）-CMTI, and AD-CMT2, respectively. Pathogenic variants in these ...; 关键词：BSCL2 Charcot-Marie-Tooth Disease PMP2 SH3TC2

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease被引量：2: 《Chinese Medical Journal》2017年第9期1049-1054,共6页Yuan-Yuan Lu He Lyu Su-Qin Jin Yue-Huan Zuo Jing Liu Zhao-Xia Wang Wei Zhang Yun Yuan; This study was supported by a grant from the National Science Foundation of China （No. 81471185）.; Background： X-linked Charcot-Marie-Tooth type 1 （CMT1 X） disease is one of the most common forms of inherited neuropathy caused by mutations in the gap junction beta-1 protein （GJB1） gene （also known as connexin...; 关键词：Connexin 32 Gap Junction Beta-I Protein Neuropathy： X-linked Charcot-Marie-Tooth Type 1

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