Associated Papers
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA et al.
Molecular Neurobiology, 2023
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.
Brar BK et al.
Prenatal Diagnosis, 2022
Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.
Attard TJ et al.
Plos Computational Biology, 2022
36206299 (PubMed )
Supplement: pcbi.1010611.s002.xlsx › gnomAD
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
Schröter J et al.
European Journal of Human Genetics : Ejhg, 2022
35017693 (PubMed )
Supplement: 41431_2021_1027_MOESM5_ESM.xlsx › Tabelle1
Genetic heterogeneity in corpus callosum agenesis.
Pânzaru MC et al.
Frontiers in Genetics, 2022
Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.
Fourel G et al.
Febs Letters, 2020
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M et al.
Orphanet Journal of Rare Diseases, 2019
30744660 (PubMed )
Supplement: 13023_2019_1020_MOESM2_ESM.xlsx › TUBA1A_unique-variants
Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.
Mencarelli A et al.
International Journal of Molecular Sciences, 2017
The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend.
Aiken J et al.
Journal of Developmental Biology, 2017
The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease.
Chakraborti S et al.
Cytoskeleton (hoboken, N.j.), 2016
Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.
Alby C et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2016
TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.
Yokoi S et al.
Scientific Reports, 2015
26493046 (PubMed )
Supplement: srep15165-s1.pdf
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
Fallet-Bianco C et al.
Acta Neuropathologica Communications, 2014
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