MUSCULAR

作品数：218被引量：253H指数：7
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Treatment of SMA type 1 infants using a single-dose AAV9-mediated gene therapy via intrathecal injection of GC101:An open-label,single-arm study被引量：2
《Chinese Medical Journal》2024年第16期1976-1978,共3页Xiuwei Ma Lu Zhuang Wenhao Ma Jun Li Xiaodong Wang Zhongqiu Li Xinyang Jiang Yongxia Wang Ying Du Yingqian Zhang Fang He Zhiming Zhu Shaopeng Du Juan Xu Ruijie Gu Yanping Zhang Shan Zhang Ting Li Xiao Yang Sheng Zhang Lina Zhu Qiuping Li Xiaoyan Dong Xiaobing Wu Zhichun Feng 
supported by the E-Town Cooperation&Development Foundation(No.YCXJ-JZ-2022-007).
Spinal muscular atrophy(SMA),a neurodegenerative disorder caused by mutations in survival motor neuron 1(SMN1)resulting in reduced expression of the survival motor neuron(SMN)protein,is inherited in an autosomal reces...
关键词：injection MORTALITY MUSCULAR 
Nutritional and lipid profile status of children with spinal muscular atrophy in China:A retrospective case-control study
《Chinese Medical Journal》2024年第10期1243-1245,共3页Yijie Feng Jia Wei Mei Yao Jianing Jin Yiqin Cui Qi Long Fei Chen Yi Hong Dongming Zhou Jingjing Hu Xiao Chen Feng Gao Changzheng Yuan Shanshan Mao 
Key Technologies Research and Development Program of Zhejiang Province(No.2021C03099);Key R&D Program of Zhejiang Province(No.2022C03167);National Natural Science Foundation(No.82271735);Zhejiang Province Public Welfare Technology Application Research Project(No.LGC21H090001);Scientific Research Fund of Zhejiang University(No.XY2022045)
To the Editor:5q spinal muscular atrophy(5qSMA)is an autosomal recessive neuromuscular disorder caused by the lack of the survival motor neuron(SMN)protein encoded by the SMN1 gene,located at 5q11.2-q13.3.[1]The incid...
关键词：ATROPHY MUSCULAR CHILDREN 
Muscular tissue desaturation and pneumonia in patients receiving lung cancer surgery:a cohort study
《Chinese Medical Journal》2023年第1期65-72,共8页Wei Zhao Caijuan Zhang Dongliang Mu Fan Cui Huiqun Jia 
National Key R&D Program of China(No.2018YFC2001800);Project of Health Commission of Hebei Province(No.20190709)
Background:Post-operative pneumonia(POP)is a common complication of lung cancer surgery,and muscular tissue oxygenation is a root cause of post-operative complications.However,the association between muscular tissue d...
关键词：ASSOCIATION Lung neoplasms Muscular tissue oxygenation One-lung ventilation Post-operative complications PNEUMONIA PROPOFOL Oxygen saturation 
A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2
《Chinese Medical Journal》2021年第22期2753-2755,共3页Liang-Liang Qiu Xiao-Dan Lin Guo-Rong Xu Li-Li Wang Zhi-Xian Ye Feng Lin Hai-Zhu Chen Min-Ting Lin Nai-Qing Cai Ming Jin Liu-Qing Xu Wei Hu Ning Wang Zhi-Qiang Wang 
the National Natural Science Foundation of China(Nos.81671237,81974193).
To the Editor:Facioscapulohumeral muscular dystrophy type 2(FSHD2)is an epigenetic myopathy caused by variants in genes encoding chromatin regulators,such as SMCHD1:these variants lead to derepression of the D4Z4-enco...
关键词：DYSTROPHY MUSCULAR YOUNGER 
Hoarseness of voice and discomfort in the throat observed after quadratus lumborum block
《Chinese Medical Journal》2021年第16期2009-2010,共2页Jihyun Chung Seunguk Bang Woojin Kwon Youngin Lee Jinsoo Kim 
To the Editor:Transmuscular quadratus lumborum block(TQLB)is known to provide visceral analgesia by blocking sympathetic fibers by spreading into the thoracic paravertebral spaces.[1]It is relatively safer than other ...
关键词：MUSCULAR SYMPATHETIC ANALGESIA 
Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients
《Chinese Medical Journal》2021年第12期1483-1485,共3页Xiao-Yu Chen Dan-Yu Song Yan-Bin Fan Dan-Dan Tan Xing-Zhi Chang Jiang-Xi Xiao Tatsushi Toda Hui Xiong 
supported by the Development Program of China(No.2016YFC0901505);National Natural Science Foundation of China(No.81571220);Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases(No.BZ0317).
Alpha-dystroglycanopathy(α-DGP)is a subtype of congenital muscular dystrophies(CMDs)with autosomal recessive inheritance.Its main pathogenesis is the defect of post-translational O-glycosylation inα-dystroglycan(α-...
关键词：PATIENTS CONGENITAL MUSCULAR 
Dysferlinopathy in a cohort of Chinese patients:clinical features,mutation spectrum,and imaging findings被引量：1
《Chinese Medical Journal》2021年第5期622-624,共3页Qi-Fu Guo Zhi-Xian Ye Liang-Liang Qiu Xin Lin Jia-He Lai Min-Ting Lin Zhi-Qiang Wang Ning Wang Feng Lin 
This study was supported by grants from the National Natural Science Foundation of China(No.81701242);the Joint Fund for Program of Science Innovation of Fujian Province,China(No.2018Y9079);the National Natural Science Foundation of Fujian Province,China(No.2019J05079).
To the Editor:Mutations in the dysferlin(DYSF)gene lead to dysferlinopathy,which is referred to as a group of muscular dystrophies with autosomal recessive inheri-tance.Dysferlinopathy includes Miyoshi myopathy(MM),li...
关键词：PATIENTS MUSCULAR DYSTROPHY 
Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction
《Chinese Medical Journal》2020年第20期2510-2511,共2页Jing-Mei Hong Miao Zhao Jin He Xue-Jing Huang Zhi-Yuan Zhao Wan-Jin Chen Ning Wang Jin-Jing Li 
grants from the National Natural Science Foundation of China(Nos.81771230,U1905210);the Joint Funds for the Innovation of Science and Technology of Fujian Province(Nos.2017Y9094 and 2018Y9082);the National Key Clinical Specialty Discipline Construction Program,the Key Clinical Specialty Discipline Construction Program of Fujian,and the Startup Fund for Scientific Research of Fujian Medical University(Nos.2018QH1050 and 2018QH2035).
To the Editor:Spinal muscular atrophy(SMA)is an autosomal recessive disease caused by a deficiency of the survival motor neuron 1(SMN1)protein,which causes the loss of motor neurons in the anterior horn of the spinal ...
关键词：ATROPHY MUSCULAR TRANSLATIONAL 
Diagnosis of Spinal Muscular Atrophy:A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing被引量：5
《Chinese Medical Journal》2018年第24期2921-2929,共9页Yan-Yan Cao Wen-Hui Zhang Yu-Jin Qu Jin-Li Bai Yu-Wei Jin Hong Wang Fang Song 
grants from The National Key Research and Development Program of China (No.2016YFC0901505);National Natural Science Foundation of China (No.81500979);CAMS Initiative for Innovative Medicine (CAMS-I2M-1-008);Central Research Institutes of Basic Research and Public Service Special Operations (No.2016ZX310182-6);a SpecialFund for Capital Health Research and Development (No.2011-1008-03);the Natural Science Foundation of Beijing Municipality (No.5163028).
Background: Spinal muscular atrophy (SMA) is caused by homozygous deletion or compound heterozygous mutation of survival motor neuron gene 1 (SMN1), which is the key to diagnose SMA. The study was to establish and eva...
关键词：Mutation SURVEYOR Software Quantitative Analysis Sanger DNA SEQUENCING SPINAL MUSCULAR ATROPHY 
A ＂Triple Trouble＂ Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy
《Chinese Medical Journal》2018年第18期2164-2171,共8页Xiao-Dan Lin Jun-Jie He Feng Lin Hai-Zhu Chen Liu-Qing Xu Wei Hu Nai-Qing Cai Min-Ting Lin Ning Wang Zhi-Qiang Wang Guo-Rong Xu 
This work was supported by grants from National Natural Science Foundation of China （No. 81671237 and No. U1505222）, Joint Fund for Program of Science innovation of Fujian Province, China （No. 2016Y9010）, and National Natural Science Foundation of Fujian Province, China （No. 2017J01196）.
Background： Facioscapulohumeral muscular dystrophy （FSHD） is characterized by asymmetric muscular deficit of facial, shoulder-girdle muscles, and descending to lower limb muscles, but it exists in several extramusc...
关键词：Facioscapulohumeral Muscular Dystrophy Myoclonic Epilepsy Overlapping Syndromes Peripheral Neuropathy TripleTrouble 
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