Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria
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Title
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria
Authors
Keywords
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Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 21, Issue 4, Pages 381-385
Publisher
Springer Nature
Online
2012-09-05
DOI
10.1038/ejhg.2012.195
References
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Note: Only part of the references are listed.- A developmental and genetic classification for malformations of cortical development: update 2012
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- EBs Recognize a Nucleotide-Dependent Structural Cap at Growing Microtubule Ends
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- Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations
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- 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
- Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients
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- Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects
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- 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
- Template-free 13-protofilament microtubule–MAP assembly visualized at 8 Å resolution
- (2010) Franck J. Fourniol et al. JOURNAL OF CELL BIOLOGY
- Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia
- (2009) Mohammad R. Abdollahi et al. AMERICAN JOURNAL OF HUMAN 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
- Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2
- (2008) William B. Dobyns et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A
- (2008) Catherine Fallet-Bianco et al. BRAIN
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