Associated Papers
Hypomyelinating leukodystrophy: From molecular mechanisms to clinical advances.
Osaka H et al.
Brain & Development, 2025
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
Gavazzi F et al.
Molecular Genetics and Metabolism, 2025
R391 human dominant mutation does not affect TubB4b localization and sensory hair cells structure in zebrafish inner ear and lateral line.
Smaili W et al.
Developmental Biology, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4
Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients.
Lee CL et al.
Frontiers in Genetics, 2024
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 novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.
Lu Y et al.
Human Genome Variation, 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
Whole exome sequencing in patients with white matter abnormalities.
Vanderver A et al.
Annals of Neurology, 2016
TUBB4A de novo mutations cause isolated hypomyelination.
Pizzino A et al.
Neurology, 2014
Select a paper to view details