Associated Papers
A Phenotypic Paradigm for Cerebral Palsy Genetics.
Arterbery AS et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41646824 (PubMed )
Supplement: media-2.xlsx › Table_S6
Adult-onset Familial TUBB4A-related Leukodystrophy Caused by c.286G>A (p.Gly96Arg) in a Korean Family: A Case Report.
Lee JS et al.
Journal of Movement Disorders, 2025
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
Gavazzi F et al.
Molecular Genetics and Metabolism, 2025
[Analysis of TUBB4A gene variant in a patient with adolescent-onset hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum].
Ying Z et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.
Attard TJ et al.
Plos Computational Biology, 2022
36206299 (PubMed )
Supplement: pcbi.1010611.s002.xlsx › References
A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia.
Hashiguchi M et al.
Human Genome Variation, 2022
Mutation analysis of the TUBB8 gene in primary infertile women with oocyte maturation arrest.
Yao Z et al.
Journal of Ovarian Research, 2022
In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.
Fellner A et al.
Scientific Reports, 2022
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
Taşkıran EZ et al.
Journal of Intellectual Disability Research : Jidr, 2021
A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.
Lu Y et al.
Human Genome Variation, 2017
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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