Associated Papers
Impact of HLD6-associated TUBB4A mutant proteins on cell morphogenesis.
Kasamatsu Y et al.
Bmc Research Notes, 2025
Three Novel Mutations in TUBB8 Cause Female Infertility Due to Multiple Morphological Abnormalities of the Oocyte and Early Embryo.
Li D et al.
Reproductive Sciences (thousand Oaks, Calif.), 2025
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
Gavazzi F et al.
Molecular Genetics and Metabolism, 2025
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
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1
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
Congenital-onset spastic paraplegia in a patient with TUBB4A mutation and mild hypomyelination.
Nicita F et al.
Journal of the Neurological Sciences, 2016
Mutations in TUBB4A and spastic paraplegia.
Kumar KR et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
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
Genetic risk and age in Parkinson's disease: Continuum not stratum.
Nalls MA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
Select a paper to view details