Associated Papers
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA et al.
Molecular Neurobiology, 2023
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
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
A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene.
Sato T et al.
Brain & Development, 2018
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