标题
TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis
作者
关键词
-
出版物
Scientific Reports
Volume 5, Issue 1, Pages -
出版商
Springer Nature
发表日期
2015-10-23
DOI
10.1038/srep15165
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。- De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy
- (2014) Thomas D. Cushion et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The genetics of lissencephaly
- (2014) Andrew E. Fry et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
- (2014) Nadia Bahi-Buisson et al. BRAIN
- KIF1A mutation in a patient with progressive neurodegeneration
- (2014) Nobuhiko Okamoto et al. JOURNAL OF HUMAN GENETICS
- Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
- (2014) Bradley N. Smith et al. NEURON
- Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly
- (2014) Catherine Fallet-Bianco et al. Acta Neuropathologica Communications
- A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
- (2013) Cas Simons et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Overlapping cortical malformations and mutations in TUBB2B and TUBA1A
- (2013) Thomas D. Cushion et al. BRAIN
- An Atypical Tubulin Kinase Mediates Stress-Induced Microtubule Depolymerization in Arabidopsis
- (2013) Satoshi Fujita et al. CURRENT BIOLOGY
- Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis
- (2013) Ginevra Zanni et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
- (2013) Karine Poirier et al. NATURE GENETICS
- A developmental and genetic classification for malformations of cortical development: update 2012
- (2012) A. James Barkovich et al. BRAIN
- Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation
- (2012) Akihisa Okumura et al. BRAIN & DEVELOPMENT
- Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria
- (2012) Karine Poirier et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities
- (2012) Martin Breuss et al. Cell Reports
- 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
- TUBA1A mutations: From isolated lissencephaly to familial polymicrogyria
- (2011) A. C. Jansen et al. NEUROLOGY
- Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance
- (2010) Max A. Tischfield et al. CELL
- 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
- Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway
- (2010) Guoling Tian et al. HUMAN MOLECULAR GENETICS
- TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins
- (2010) Ravinesh A. Kumar et al. HUMAN MOLECULAR GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Structural Basis of Interprotofilament Interaction and Lateral Deformation of Microtubules
- (2010) Haixin Sui et al. STRUCTURE
- Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly
- (2009) DJ Morris-Rosendahl et al. CLINICAL GENETICS
- Diversifying microtubules in brain development
- (2009) Andrew P Jackson NATURE GENETICS
- Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria
- (2009) Xavier Hubert Jaglin et al. NATURE GENETICS
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects
- (2009) Xavier H. Jaglin et al. TRENDS IN GENETICS
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