Spinal muscular atrophy, John Griffin, and mentorship.
Spinal muscular atrophy, John Griffin, and mentorship.
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脊髓性肌肉萎缩症，约翰·格里芬和指导。
DOI：
10.1111/j.1529-8027.2012.00432.x
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发表时间：
2012
期刊：
影响因子：
--
通讯作者：
Sumner,CharlotteJ
中科院分区：
文献类型：
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作者：
Sumner,CharlotteJ
遗传性脊髓性肌萎缩症是一种遗传性运动神经元病，发生在西班牙布列塔尼，与人类脊髓性肌萎缩症有显著的相似之处。这两种疾病的特征都是近侧肢体和躯干肌肉无力，程度不一。详细的病理学研究表明，运动神经元死亡前存在运动神经元突触的早期功能障碍，尤其是神经肌肉接头突触。这段突触功能障碍可能为运动神经元病的疾病可逆性提供了一个关键的机会窗口。
Hereditary canine spinal muscular atrophy is an inherited motor neuron disease that occurs in Brittany Spaniels and has remarkable similarities with human spinal muscular atrophy. Both disorders are characterized by proximal limb and truncal muscle weakness of variable severity. Detailed pathological studies indicate that there is early dysfunction of motor neuron synapses, particularly the neuromuscular junction synapse, prior to motor neuron death. This period of synaptic dysfunction may define a critical window of opportunity for disease reversibility in motor neuron disease.