Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany.
作者信息
Schöls L, Amoiridis G, Langkafel M, Büttner T, Przuntek H, Riess O, Vieira-Saecker A M, Epplen J T
出版信息
J Neurol Neurosurg Psychiatry. 1995 Oct;59(4):449-50. doi: 10.1136/jnnp.59.4.449.
Abstract
摘要
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J Neurol Neurosurg Psychiatry. 1995 Oct;59(4):449-50. doi: 10.1136/jnnp.59.4.449.
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A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q.对一个与14号染色体q臂上的DNA标记紧密连锁的患有Machado-Joseph病的大型日本家族进行的临床和病理研究。
Neurology. 1994 Jul;44(7):1302-8. doi: 10.1212/wnl.44.7.1302.
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CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.14号染色体长臂32.1区马查多-约瑟夫病新基因中的CAG重复序列扩增。
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Hypomania following increased epileptic activity.癫痫活动增加后出现轻躁狂。
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Br J Psychiatry. 1988 Jan;152:137-9. doi: 10.1192/bjp.152.1.137.
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A large Japanese family with Machado-Joseph disease: clinical and genetic studies.一个患有马查多-约瑟夫病的大型日本家族：临床与遗传学研究。
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