Associated Papers
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
Novel TUBB4A mutation in a family with hereditary spastic paraplegia.
Lv D et al.
Acta Neurologica Belgica, 2023
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
Hypomyelinating leukodystrophies in adults: Clinical and genetic features.
Di Bella D et al.
European Journal of Neurology, 2021
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
Congenital-onset spastic paraplegia in a patient with TUBB4A mutation and mild hypomyelination.
Nicita F et al.
Journal of the Neurological Sciences, 2016
Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings.
Sagnelli A et al.
Journal of Neurology, 2016
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