Associated Papers
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
Gavazzi F et al.
Molecular Genetics and Metabolism, 2025
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia.
Hashiguchi M et al.
Human Genome Variation, 2022
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy.
Okubo M et al.
Annals of Neurology, 2019
Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
Feng R et al.
The New England Journal of Medicine, 2016
Select a paper to view details