The focal dystonias: current views and challenges for future research.
The focal dystonias: current views and challenges for future research.
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DOI：
10.1002/mds.25567
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发表时间：
2013-06-15
影响因子：
8.6
通讯作者：
Rosen, Ami R.
中科院分区：
文献类型：
--
作者：
Jinnah, H. A.;Berardelli, Alfredo;Comella, Cynthia;DeFazio, Giovanni;DeLong, Mahlon R.;Factor, Stewart;Galpern, Wendy R.;Hallett, Mark;Ludlow, Christy L.;Perlmutter, Joel S.;Rosen, Ami R.
最常见的肌张力障碍形式是那些在成人中发展并影响身体相对孤立的区域的肌张力障碍。虽然这些成人发作的局灶性肌张力障碍是最普遍的，其病因和发病机制的知识已经落后于一些罕见的全身性肌张力障碍，其中遗传缺陷的鉴定促进了基础和临床研究。本摘要简要回顾了成人发作的局灶性肌张力障碍的临床表现，重点关注需要进一步研究的不太清楚的临床表现。它还提供了一个简单的概念模型之间的相似性和差异性不同的成人发作的局灶性肌张力障碍，作为一个基本原理将它们集中在一起作为一类疾病，而在同一时间将它们分为亚型。最后一节概述了未来一些最重要的研究问题。这些问题的答案对于促进我们对这组疾病的理解和开发新的治疗方法至关重要。
The most common forms of dystonia are those that develop in adults and affect a relatively isolated region of the body. Although these adult-onset focal dystonias are most prevalent, knowledge of their etiologies and pathogenesis has lagged behind some of the rarer generalized dystonias, where the identification of genetic defects has facilitated both basic and clinical research. This summary provides a brief review of the clinical manifestations of the adult-onset focal dystonias, focussing attention on less well-understood clinical manifestations that need further study. It also provides a simple conceptual model for the similarities and differences among the different adult-onset focal dystonias, as a rationale for lumping them together as a class of disorders while at the same time splitting them into subtypes. The concluding section outlines some of the most important research questions for the future. Answers to these questions are critical for advancing our understanding of this group of disorders, and for developing novel therapeutics.
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DOI：
10.1044/1092-4388(2006/081
发表时间：
2006-10-01
影响因子：
2.6
作者：
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通讯作者：
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影响因子：
4.1
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影响因子：
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作者：
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通讯作者：
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影响因子：
2.2
作者：
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通讯作者：
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影响因子：
14.5
作者：
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通讯作者：
SPEELMAN, JD