Duchenne Muscular Dystrophy: From Diagnosis to Therapy. Molecules (Basel, Switzerland). 20:18168-18184.Falzarano MS, Scotton C, Passarelli C, et al. Duchenne muscular dystro- phy: from diagnosis to therapy. Molecules. 2015;20(10):18168-18184....
A late diagnosis of Duchenne muscular dystrophy has implications for both child and family. This repeat audit has shown that the diagnosis continues to be delayed. The failure to recognize that non-motor, and specifically speech and language delay are common features of this disease may detract fr...
Arahata K, Engel AG. Monoclonal antibody analysis of mononuclear cells in myopathies: I. Quantitation of subsets according to diagnosis and sites of accumulation and demonstration and counts of muscle fibers invaded by T cells. Ann Neurol 1984 Aug; 16(2): 193–208 ArticlePubMed Griggs RC, M...
Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish. J Hum Gen 2006; 51: 397-406.Kunkel, L.M., Bachrach, E., Bennett, R.R., Guyon, J. and Steffen, L. (2006) Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice...
Kim UK,Chae JJ.Molecular diagnosis of Duchenne/Becker muscular dystrophy by polymerase chain reaction and microsatellite analysis[J].Mol Cells,2002; 13(3):385.Molecular diagnosis of Duchenne/Becker muscular dystrophy by polymerase chain reaction and mi- crosatellite analysis. Kim UK,Chae JJ. ...
Duchenne/Becker muscular dystrophy: From molecular diagnosis to gene therapy Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked muscular dystrophies. The recent isolation of the defective gene in DMD/... M Matsuo - 《Brain Dev》 被引量: 117发表: 1996年 ...
Creatine phosphokinase (CPK) activity is markedly elevated in the plasma of affected infants postnatally and may be similarly elevated in early fetal life. We are testing this hypothesis by measuring plasma CPK at 18-20 weeks gestation. Plasma samples are obtained by placental venipuncture during ...
Muscular Dystrophy News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your ...
目的探讨染色体微阵列分析(chromosome microarray analysis,CMA)联合多重连接探针扩增(multiplex ligation-dependent probe amplification,MLPA)技术在Becker肌营养不良(Becker muscular dystrophy,BMD)/Duchenne肌营养不良(Duchenne muscular dystrophy,...
Bushby, K. et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care.Lancet Neurol.9, 177–189 (2010). ArticleCASGoogle Scholar Ryberg, E. et al. Identification and characterisation of a novel splice variant of the human CB1 receptor.FEBS ...