肌营养不良是一类以骨骼肌受累为主的遗传变性病,通过临床表现可诊断出20种以上的肌营养不良.自定位克隆手段发现Duchenne/Becker肌营养不良(DMD/BMD)的基因产物抗肌萎缩蛋白(dystrophin)以来,人们进行了广泛的研究来探讨肌营养不良的病理生理和治疗方法.中文核心期刊要目总览(PKU)中国科学引文数据库(CSCD)012958-9614
<div><p>Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive neuromuscular diso...
Muscular dystrophies are a group of more than 160 different human neuromuscular disorders characteri...
Duchenne muscular dystrophy (DMD) is a genetic disease affecting about one in every 3,500 boys. This...
Objective: The aim was to update the genetic and clinical advances of congenital muscular dystrophy ...
目的 研究先天性肌营养不良(congenital muscular dystrophies,CMD)的MRI特点.资料与方法 对10例临床诊断为CMD的患儿行常规头部MRI,分析其脑白质及脑发育异常情...
目的对确诊为杜氏肌营养不良(DMD)患儿血清进行基因和肌酸磷酸激酶(CPK)检测,以研究DMD的基因缺失情况以及与CPK的关系.方法①采用多重引物PCR的方法检测基因缺失;②应用多功能全自动生化仪检测...
Among diseases affecting skeletal muscle, muscular dystrophy is one of the most devastating and comp...
의학과/석사[한글] 안면견갑상완형 근이영양증 (Facioscapulohumeral muscular dystrophy, FSHD)는 상염색체 우성의 유전 질환이다. FSHD 는 p...
OBJECTIVES: To evaluate the diagnostic outcomes in a large cohort of congenital muscular dystrophy (...
Progress in understanding the role of dystrophin raises promising hopes for a treatment for Duchenne...
Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of ...
Genetic approaches for the diagnosis and treatment of inherited muscle diseases have advanced rapidl...
Objective:We aimed to determine the frequency of all known forms of congenital muscular dystro-phy (...
International audienceCongenital muscular dystrophies are a group of rare neuromuscular disorders wi...
目的 了解中国人群DMD基因外显子突变的特点和产前诊断情况.方法 应用多重连接依赖性探针扩增技术(multiplex ligation-dependent probe amplification,ML...
<div><p>Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive neuromuscular diso...
Muscular dystrophies are a group of more than 160 different human neuromuscular disorders characteri...
Duchenne muscular dystrophy (DMD) is a genetic disease affecting about one in every 3,500 boys. This...
Objective: The aim was to update the genetic and clinical advances of congenital muscular dystrophy ...
目的 研究先天性肌营养不良(congenital muscular dystrophies,CMD)的MRI特点.资料与方法 对10例临床诊断为CMD的患儿行常规头部MRI,分析其脑白质及脑发育异常情...
目的对确诊为杜氏肌营养不良(DMD)患儿血清进行基因和肌酸磷酸激酶(CPK)检测,以研究DMD的基因缺失情况以及与CPK的关系.方法①采用多重引物PCR的方法检测基因缺失;②应用多功能全自动生化仪检测...
Among diseases affecting skeletal muscle, muscular dystrophy is one of the most devastating and comp...
의학과/석사[한글] 안면견갑상완형 근이영양증 (Facioscapulohumeral muscular dystrophy, FSHD)는 상염색체 우성의 유전 질환이다. FSHD 는 p...
OBJECTIVES: To evaluate the diagnostic outcomes in a large cohort of congenital muscular dystrophy (...
Progress in understanding the role of dystrophin raises promising hopes for a treatment for Duchenne...
Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of ...
Genetic approaches for the diagnosis and treatment of inherited muscle diseases have advanced rapidl...
Objective:We aimed to determine the frequency of all known forms of congenital muscular dystro-phy (...
International audienceCongenital muscular dystrophies are a group of rare neuromuscular disorders wi...
目的 了解中国人群DMD基因外显子突变的特点和产前诊断情况.方法 应用多重连接依赖性探针扩增技术(multiplex ligation-dependent probe amplification,ML...
<div><p>Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive neuromuscular diso...
Muscular dystrophies are a group of more than 160 different human neuromuscular disorders characteri...
Duchenne muscular dystrophy (DMD) is a genetic disease affecting about one in every 3,500 boys. This...
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