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- Keywords Adult spinal muscular atrophy;Clinical;Electromyography;Pathomorphism; 关键词成人型脊髓性肌萎缩症;临床;肌电图;病理;
- Keywords Adult spinal muscular atrophy Muscle biopsy genetic feature; 成人型脊髓性肌萎缩症;肌肉活检;遗传学特征;
- Relationship between the pathology of skeletal muscle and muscular atrophy in adult spinal muscular atrophy 成人型脊髓性肌萎缩症的骨骼肌病理与肌萎缩的关系
- Adult spinal muscular atrophy 成人脊髓性肌萎缩
- adult chronic proximal spinal muscular atrophy 成人慢性近端脊肌萎缩症
- A gene implicated in Spinal Muscular Atrophy showed an association in three populations, but not in Yoruba from Ibadan, Nigeria. 一个涉及脊髓性肌萎缩病的基因显示出与三个人群有关联但却没有在伊巴丹、尼日利亚、的优鲁巴人身上发现。
- Objective To study survival motor neuron (SMN) deletion in adult-onset patients with spinal muscular atrophy (SMA). 目的探讨成年起病的脊肌萎缩症(SMA)患者的运动神经元存活基因SMN的缺失情况。
- Objective To establish a gene diagnosis assay for spinal muscular atrophy(SMA) in children. 目的探讨儿童脊髓性肌萎缩症(SMA)的特异性基因诊断方法。
- Objective: To establish a genetic diagnosis assay for spinal muscular atrophy (SMA) in children. 摘要目的：建立儿童型脊髓性肌萎缩症(SMA)的特异性基因诊断平台。
- ObjectiveTo establish spinal muscular atrophy (SMA) cell model by blocking the expression of SMN1 gene with shRNA. 目的：应用RNA干扰沉默SMN1基因的表达建立脊髓性肌萎缩症（SMA）的细胞模型。
- Objective To carry out prenatal gene diagnosis in a pedigree of infantile spinal muscular atrophy (SMA). 目的对一婴儿型脊肌萎缩症家系进行产前基因诊断。
- Objective This study examined the prevalence of deletion and subtle mutations of survival motor neuron( SMN) gene in children with spinal muscular atrophy( SMA). 目的研究儿童型脊肌萎缩症(MA)者中运动神经元生存基因缺失与微突变情况。
- Objective To investigate the relationship between survival motor neuron(SMN)gene and the clinical features of childhood spinal muscular atrophy(SMA). 目的探讨运动神经元存活基因与儿童期脊肌萎缩症临床特征的关系。
- Objective To investigate the clinical features, diagnosis and differential diagnosis of progressive spinal muscular atrophy (PSMA). 摘要目的探讨进行性脊肌萎缩症(PSMA)的临床特点、诊断与鉴别诊断。
- Study mechanism of the stem cell therapy, stroke, acute renal failure, and spinal muscular atrophy by transgenic and knockout mice. 利用小鼠动物模式探讨干细胞治疗;中风;急性肾衰竭;人类脊髓肌肉萎缩症分子机制.
- Objective To explore the feature of electrical physiology and the key aspect of diagnosis in early stage of spinal muscular atrophy in infants. 摘要目的分析婴儿型脊肌萎缩症患儿的临床及电生理表现，探讨本病的电生理特点及早期诊断要点。
- Objective:To explore the features of electrical physiology and diagnosis in early stage of infantile spinal muscular atrophy. 目的:分析婴儿型脊肌萎缩症患儿的临床及电生理表现,探讨本病的临床特点及早期诊断。
- Objective To investigate the relationship between survival motor neuron( SMN) gene and the clinical features of childhood spinal muscular atrophy( SMA). 目的探讨运动神经元存活基因与儿童期脊肌萎缩症临床特征的关系。
- Survival in spinal muscular atrophy type 1 patients has increased in recent years, in relation to the growing trend toward more proactive clinical care. 近年来1型脊肌萎缩症幸存者增加归功于主动临床护理的增长。
- The relationship between the distrabution,constraction and function of survival motor neuron (SMN) protein and spinal muscular atrophy (SMA) has been reviewed in this paper. 本文着重就SMN蛋白分布、结构、功能及其与脊髓性肌萎缩症(SMA)的关系进行了综述。
