Associated Papers
Impact of HLD6-associated TUBB4A mutant proteins on cell morphogenesis.
Kasamatsu Y et al.
Bmc Research Notes, 2025
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
Gavazzi F et al.
Molecular Genetics and Metabolism, 2025
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
Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
Kancheva D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.
Carvalho D et al.
Brain : a Journal of Neurology, 2015
Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.
Purnell SM et al.
Pediatric Neurology, 2014
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