Progressive spinal muscular atrophy

1、

In humans, probably the most common genetic disorder caused by inbreeding is spinal muscular atrophy ( SMA).

在人类中，由近亲繁殖带来的最普遍的遗传缺陷可能是脊髓性肌肉萎缩症。

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2、

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。

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3、

Objective To investigate the clinical and electrophysiology features of infantile spinal muscular atrophy, and explore the clinical significance of genetic diagnosis.

目的探讨婴儿型脊髓性肌萎缩症的临床、电生理特点及基因诊断的临床意义。

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4、

Detection of SMN gene deletions in spinal muscular atrophy

脊肌萎缩症基因缺失的初步研究

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5、

Analysis of clinical manifestation and EMG in patients with spinal muscular atrophy accompanied by elevation of CK levels

肌酸磷酸激酶增高的脊髓性肌萎缩症患者临床与肌电图分析

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6、

Study of NAIP gene in spinal muscular atrophy

脊髓性肌萎缩患儿的NAIP基因分析

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7、

Electromyogram ( emg) and muscle biopsy in patients with chronic spinal muscular atrophy

慢性脊髓性肌萎缩的肌电图及肌活检

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8、

Detection of survival motor neuron gene deletions using allele-specific amplification in patients with spinal muscular atrophy

等位基因特异性扩增法检测脊髓性肌萎缩运动神经元生存基因缺失

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9、

The diagnosis value of SMN gene deletions in progressive spinal muscular atrophy

运动神经元存活基因对进行性脊肌萎缩症的诊断价值

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10、

Methods The clinical data of13 infants suffering from infantile spinal muscular atrophy were analysed.

方法分析13例婴儿型脊髓性肌萎缩症患儿的临床资料。

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11、

Application of quantitative analysis of survival motor neuron copy number in gene diagnosis for type ⅲ spinal muscular atrophy

运动神经元生存基因拷贝数定量分析在Ⅲ型脊髓性肌萎缩症基因诊断中的应用

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12、

The characteristics of spinal muscular atrophy in adults

成人型脊髓性肌萎缩症临床及遗传学研究

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13、

Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population

古巴人群Ⅰ型脊肌萎缩发生率降低的依据

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14、

Objectives To investigate the clinical features and the onset pattern of spinal muscular atrophy.

目的探讨脊肌萎缩症的临床特点和遗传方式。

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15、

Study on the Gene Diagnosis and the Genotype-Phenotype Correlation of Spinal Muscular Atrophy

脊髓性肌萎缩症基因诊断及基因型与表型关系的研究

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16、

A study on gene diagnosis in childhood-onset spinal muscular atrophy

儿童型脊肌萎缩症基因诊断的研究

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17、

Gene Diagnosis of Spinal Muscular Atrophy in Children

儿童脊髓性肌萎缩症的基因诊断

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18、

Gene diagnosis and prenatal gene diagnosis of spinal muscular atrophy

脊髓性肌萎缩的基因诊断和产前基因诊断研究

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19、

Prenatal diagnosis of spinal muscular atrophy based on umbilical cord blood

胎儿脐带血产前诊断脊髓性肌萎缩症

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20、

Clinical analysis of 129 cases of progressive spinal muscular atrophy

进行性脊肌萎缩症129例临床分析

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