脊髓性肌萎缩

成人型脊髓性肌萎缩&附1例临床及病理报告

A case report of spinal muscular atrophy ( adult type ) with clinical and pathological examinations

小儿进行性脊髓性肌萎缩83例临床分析

Clinical study of 83 cases with spinal muscular atrophy in children

脊髓性肌萎缩患儿的NAIP基因分析

Study of NAIP gene in spinal muscular atrophy

脊髓性肌萎缩的基因诊断和产前基因诊断研究

Gene diagnosis and prenatal gene diagnosis of spinal muscular atrophy

慢性脊髓性肌萎缩的肌电图及肌活检

Electromyogram ( emg ) and muscle biopsy in patients with chronic 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

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

脊髓性肌萎缩临床特征

Spinal Muscular Atrophies clinical features

β地中海贫血和脊髓性肌萎缩是两种常见的单基因遗传病。

β - thalassemia and Spinal muscular atrophy ( SMA ) are two common autosomal recessive diseases .

先天性梅毒致先天性肾病综合征一例并文献复习梅毒性脊髓病性肌萎缩

Case report of congenital nephrotic syndrome caused by congenital syphilis and literature review

脊髓性进行性肌萎缩

Progressive spinal muscular atrophy