werdnig-hoffmann disease

Prenatal diagnosis in seven families with childhood-onset spinal muscular atrophy;

儿童型脊髓性肌萎缩症家系7例产前诊断

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。

The Application of DHPLC in the Gene Diagnosis of the Childhood Type Spinal Muscular Atrophy and the Gene Screening of the SMA Carriers

DHPLC技术在儿童型脊髓性肌萎缩症的基因诊断及携带者筛查中的应用

The Application of DHPLC in the Gene Diagnosis of the Childhood Type Spinal Muscular Atrophy and in the Gene Screening of the SMA Carriers

DHPLC技术在儿童型脊髓性肌萎缩症的基因诊断及携带者基因筛查中的应用

amyotrophic lateral sclerosis

ph.1. 肌萎缩性脊髓侧索硬化症

progressive spinal muscular atrophy

脊髓性进行性肌萎缩

syphilitic spinal muscular atroph

梅毒性脊髓病性肌萎缩

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

The Association Analysis between Spinal Muscular Atrophy 1 and Mitochondrial Genome;

I型脊髓性肌萎缩症与线粒体基因组的相关性研究

The Studies of the Detection and Expression of SMN Gene of Spinal Muscular Atrophy;

脊髓性肌萎缩症SMN基因检测及其表达的研究

Gene Sequencing and Prenatal Diagnosis of Spinal Muscular Atrophy;

脊髓性肌萎缩症基因测序及产前基因诊断

The Studies and Application of Gene Diagnosis for Spinal Muscular Atrophy;

脊髓性肌萎缩症的基因诊断及其应用研究

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

hic muscular atrophy

杜-阿二氏病;脊髓病性肌萎缩;脊髓性进行性肌萎缩

Diadynamic value of eletromyography in identification of amyotrophic lateral sclerosis and cervical spondylotic myelopathy

肌电图在鉴别肌萎缩侧索硬化症和脊髓型颈椎病中的诊断价值

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。

② nerve conduction velocity of patients with ASL and SCM.

②肌萎缩侧索硬化症与脊髓型颈椎病患者神经传导速度检测结果。

Establishment and Application of Haplotype Analysis and Single Cell PCR in Spinal Muscular Atrophy;

脊髓性肌萎缩症单体型连锁分析和单细胞扩增方法的建立及应用研究

Relationship between Expression of Zinc Finger Protein A20 mRNA and Apoptosis in Spinal Muscular Atrophy;

锌指蛋白A20mRNA表达与脊髓性肌萎缩症细胞凋亡的关系

A Study on Organotypic Spinal Cord Culture Model of Amyotrophic Lateral Sclerosis;

肌萎缩侧索硬化脊髓器官型培养模型的研究