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Mutations in 31 known genes and additional unidentified loci can produce Charcot–Marie–Tooth disease.

他们用全基因组测序的方法对一个家庭进行特殊的诊断,在这个家庭中,有四个兄弟姐妹患有腓骨肌萎缩症-一种末梢神经疾病。31个已知基因中的突变和额外未确定的位点能够导致这种疾病。

Objective: To explore the correct position nursing, which can promote the rehabilitation of the patients of cerebral apoplexy by accelerating the recovery of limbs function, preventing bedsore, hypostatic pneumonia, avoiding the occurrence of spastic mode, secondary articular contracture deformity and amyotrophia.

A+VB2N L 摘要:目的:探讨正确的体位护理,促进脑卒中患者的肢体功能恢复,防止褥疮、坠积性肺炎、预防痉挛模式的出现及继发性关节挛缩、畸形及肌萎缩,促进患者的康复。

Objective: To explore the correct position nursing, which can promote the rehabilitation of the patients of cerebral apoplexy by accelerating the recovery of limbs function, preventing bedsore, hypostatic pneumonia, avoiding the occurrence of spastic mode, secondary articular contracture deformity and amyotrophia.

目的:探讨正确的体位护理,促进脑卒中患者的肢体功能恢复,防止褥疮、坠积性肺炎、有奖征文121_1征稿预防痉挛模式的出现及继发性关节挛缩、畸形及肌萎缩,促进患者的有奖征文121_1征稿康复。

Methods: Internodal length, the densities of myelinated fiber and unmyelinated fiber, g ratio(axon diameter:fiber diameter) of sural nerves from 7 peroneal muscular atrophy patients were measured and compared between HMSNⅠand Ⅱ.

测定7例腓骨肌萎缩症(遗传性运动感觉神经病,HMSNⅠ和Ⅱ型)患者腓肠神经的节间长度、有髓纤维和无髓纤维的密度以及轴突直径与纤维直径之比,并比较HMSNⅠ和Ⅱ型间上述参数的差异。

Metabolon will test plasma samples obtained from patients using its metabolomics platform to identify biomarkers for ALS.

Metabolon公司将使用该公司的metabolomics平台检测患者的血浆样本,以鉴别肌萎缩性脊髓侧索硬化的生物指标。

"It is clear from the receipt of our third grant that Metabolon's technology has great potential to discover novel biomarkers for the diagnosis and treatment of ALS," noted Dr.

Metabolon公司总裁兼首席执行官John Ryals博士指出:&我们获得第三项拨款,显示Metabolon公司的技术在开发肌萎缩性脊髓侧索硬化疾病的新型诊断与治疗方法方面,具有巨大的潜能。&

This new research modified the introduced dystrophin gene to increase the efficiency of dystrophin protein production in the cells.

这一新的经过改造的方法,增强了抗肌萎缩蛋白在肌肉细胞内产生的有效性。

I'm a young man in good health ,I can do more work than Stephen Howking ,I can devote myself to my country,I can also choose the way of my life.

a k; ^! O0 y 他被同事们誉为一个有独创性的思想家,受爱戴的朋友,和意志坚强的生存者,他在被确诊为肌萎缩性脊髓侧索硬化症后已经存活了数十年。

February 21, 2007PTC Therapeutics of South Plainfield, N.J., will test a higher dose of its experimental compound PTC124 in approximately 12 boys with Duchenne muscular dystrophy caused by a premature stop codon mutation.

位在纽泽西州-南普兰费得的 PTC Therapeutics 公司将使用更高剂量的 PTC124 为大约12位裘馨型肌萎缩症病童进行治疗基因过早停止编码突变的试验。

Objective To study survival motor neuron deletion in adult-onset patients with spinal muscular atrophy.

目的 探讨成年起病的脊肌萎缩症患者的运动神经元存活基因SMN的缺失情况。

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