Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

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6. Mutations in BIN1 Associated with Centronuclear Myopathy Disrupt Membrane Remodeling by Affecting Protein Density and Oligomerization
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7. Tubulation by Amphiphysin Requires Concentration-Dependent Switching from Wedging to Scaffolding
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9. Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants
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10. The BAR Domain Superfamily Proteins from Subcellular Structures to Human Diseases
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15. Mild Functional Differences of Dynamin 2 Mutations Associated to Centronuclear Myopathy and Charcot-Marie-Tooth Peripheral Neuropathy
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17. Structure and Dynamics of Helix-0 of the N-BAR Domain in Lipid Micelles and Bilayers
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19. BIN1 regulates dynamic t-tubule membrane
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22. Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2
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23. Congenital myopathies: not only a paediatric topic
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26. BIN1 Membrane Curvature Sensing and Generation Show Autoinhibition Regulated by Downstream Ligands and PI(4,5)P2
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    F. Hanisch, T. Müller, A Dietz, Marc Bitoun, W. Kress, Joachim Weis, Gisela Stoltenburg, S. Zierz · 2011 · Journal of Neurology
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33. The ESCRT-III pathway facilitates cardiomyocyte release of cBIN1-containing microparticles
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34. Mutant BIN1-Dynamin 2 complexes dysregulate membrane remodeling in the pathogenesis of centronuclear myopathy
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    Mehar Chand Sharma, D. Jain, Chitra Sarkar, Hans Hilmar Goebel · 2009 · Acta Neurologica Scandinavica
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