Associated Papers
Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan.
Ikegawa T et al.
Brain & Development, 2025
A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.
Zucco J et al.
Journal of Human Genetics, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM23_ESM.xlsx › Sheet1
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
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.
Jurgens JA et al.
European Journal of Human Genetics : Ejhg, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
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
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Romaniello R et al.
European Radiology, 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
Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis.
Zanni G et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013
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