标题
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
作者
关键词
-
出版物
BRAIN
Volume 137, Issue 12, Pages 3160-3170
出版商
Oxford University Press (OUP)
发表日期
2014-09-27
DOI
10.1093/brain/awu272
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- The myotubularin–amphiphysin 2 complex in membrane tubulation and centronuclear myopathies
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- Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome
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- Disrupted Membrane Structure and Intracellular Ca2+ Signaling in Adult Skeletal Muscle with Acute Knockdown of Bin1
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- Roles of Amphipathic Helices and the Bin/Amphiphysin/Rvs (BAR) Domain of Endophilin in Membrane Curvature Generation
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- PHENOTYPE OF A PATIENT WITH RECESSIVE CENTRONUCLEAR MYOPATHY AND A NOVEL BIN1 MUTATION
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- Centronuclear myopathies: A widening concept
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- Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation
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- Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy
- (2009) James J. Dowling et al. PLoS Genetics
- “Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy
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- Structure and Dynamics of Helix-0 of the N-BAR Domain in Lipid Micelles and Bilayers
- (2008) Christian Löw et al. BIOPHYSICAL JOURNAL
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