Associated Papers
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
MRI Features in a Rat Model of H-ABC Tubulinopathy.
Garduno-Robles A et al.
Frontiers in Neuroscience, 2020
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
The clinical syndrome of dystonia with anarthria/aphonia.
Ganos C et al.
Parkinsonism & Related Disorders, 2016
Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
Feng R et al.
The New England Journal of Medicine, 2016
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
Erro R et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
Exome sequencing in undiagnosed inherited and sporadic ataxias.
Pyle A et al.
Brain : a Journal of Neurology, 2015
Adult-Onset Dystonia with Late-Onset Epilepsy in TUBB4A-Related Hypomyelinating Leukodystrophy-A New Intermediate Phenotype.
Sarkar P et al.
Annals of Indian Academy of Neurology, 0
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