Associated Papers
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
Gavazzi F et al.
Molecular Genetics and Metabolism, 2025
Functional Investigation of TUBB4A Variants Associated with Different Clinical Phenotypes.
Xiao H et al.
Molecular Neurobiology, 2022
A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia.
Hashiguchi M et al.
Human Genome Variation, 2022
In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.
Fellner A et al.
Scientific Reports, 2022
A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination.
Duncan ID et al.
Annals of Neurology, 2017
A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.
Lu Y et al.
Human Genome Variation, 2017
28791129 (PubMed )
Supplement: hgv201735-s2.pdf
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
TUBB4A de novo mutations cause isolated hypomyelination.
Pizzino A et al.
Neurology, 2014
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