Associated Papers
The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.
Mancini C et al.
Genes, 2025
Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.
Wu J et al.
Orphanet Journal of Rare Diseases, 2024
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK et al.
Jama Neurology, 2023
37486637 (PubMed )
Supplement: jamaneurol-e232363-s002.xlsx › All_-_AlphaGene
Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.
Fourel G et al.
Febs Letters, 2020
Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
Feng R et al.
The New England Journal of Medicine, 2016
Microtubules and neurodevelopmental disease: the movers and the makers.
Breuss M et al.
Advances in Experimental Medicine and Biology, 2014
A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.
Stottmann RW et al.
Human Molecular Genetics, 2013
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
Cederquist GY et al.
Human Molecular Genetics, 2012
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.
Guerrini R et al.
European Journal of Human Genetics : Ejhg, 2012
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