An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation
出版年份 2012 全文链接
标题
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation
作者
关键词
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出版物
HUMAN MOLECULAR GENETICS
Volume 21, Issue 26, Pages 5484-5499
出版商
Oxford University Press (OUP)
发表日期
2012-09-22
DOI
10.1093/hmg/dds393
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance
- (2012) ROMINA ROMANIELLO et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations
- (2012) Renzo Guerrini et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A Radial Glia-Specific Role of RhoA in Double Cortex Formation
- (2012) Silvia Cappello et al. NEURON
- Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations
- (2011) Max A Tischfield et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- What disorders of cortical development tell us about the cortex: one plus one does not always make two
- (2011) M Chiara Manzini et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Signaling Mechanisms in Cortical Axon Growth, Guidance, and Branching
- (2011) Katherine Kalil et al. Frontiers in Neuroanatomy
- Distinct α- and β-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the ‘multi-tubulin’ hypothesis
- (2010) Max A. Tischfield et al. BIOSCIENCE REPORTS
- Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance
- (2010) Max A. Tischfield et al. CELL
- Wnt/calcium signaling mediates axon growth and guidance in the developing corpus callosum
- (2010) B. Ian Hutchins et al. Developmental Neurobiology
- Key residues on microtubule responsible for activation of kinesin ATPase
- (2010) Seiichi Uchimura et al. EMBO JOURNAL
- Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects
- (2010) Karine Poirier et al. HUMAN MOLECULAR GENETICS
- Lateral competition for cortical space by layer-specific horizontal circuits
- (2010) Hillel Adesnik et al. NATURE
- Molecular Motors in Neurons: Transport Mechanisms and Roles in Brain Function, Development, and Disease
- (2010) Nobutaka Hirokawa et al. NEURON
- Wnt5a Induces Simultaneous Cortical Axon Outgrowth and Repulsive Axon Guidance through Distinct Signaling Mechanisms
- (2009) L. Li et al. JOURNAL OF NEUROSCIENCE
- Control of Cortical Axon Elongation by a GABA-Driven Ca2+/Calmodulin-Dependent Protein Kinase Cascade
- (2009) N. Ageta-Ishihara et al. JOURNAL OF NEUROSCIENCE
- Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria
- (2009) Xavier Hubert Jaglin et al. NATURE GENETICS
- Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects
- (2009) Xavier H. Jaglin et al. TRENDS IN GENETICS
- Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options
- (2008) Renzo Guerrini et al. TRENDS IN NEUROSCIENCES
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