Associated Papers
Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan.
Ikegawa T et al.
Brain & Development, 2025
A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders.
Di Pasquale G et al.
Frontiers in Cellular Neuroscience, 2025
Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg.
Schmidt L et al.
Molecular Syndromology, 2021
De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.
Cai S et al.
Journal of Human Genetics, 2020
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.
Ejaz R et al.
American Journal of Medical Genetics. Part A, 2017
37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.
Keppler-Noreuil KM et al.
American Journal of Medical Genetics. Part A, 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
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