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
Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.
Fourel G et al.
Febs Letters, 2020
Tubulin mutations in brain development disorders: Why haploinsufficiency does not explain TUBA1A tubulinopathies.
Aiken J et al.
Cytoskeleton (hoboken, N.j.), 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
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
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
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Bahi-Buisson N et al.
Brain : a Journal of Neurology, 2014
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