Associated Papers
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
Gavazzi F et al.
Molecular Genetics and Metabolism, 2025
Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies.
Vaseghi P et al.
European Journal of Human Genetics : Ejhg, 2024
A New Phenotype of TUBB4A Mutation in a Family With Adult-Onset Progressive Spastic Paraplegia and Isolated Hypomyelination Leukodystrophy: A Case Report and Literature Review.
Hsieh PC et al.
Journal of Movement Disorders, 2024
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
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
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
Hamilton EM et al.
Brain : a Journal of Neurology, 2014
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