Associated Papers
A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders.
Di Pasquale G et al.
Frontiers in Cellular Neuroscience, 2025
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Akgun-Dogan O et al.
Frontiers in Genetics, 2024
38560291 (PubMed )
Supplement: Table2.XLSX › Sheet1
MAPping tubulin mutations.
Cushion TD et al.
Frontiers in Cell and Developmental Biology, 2023
Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg.
Schmidt L et al.
Molecular Syndromology, 2021
Defining the phenotypical spectrum associated with variants in TUBB2A.
Brock S et al.
Journal of Medical Genetics, 2021
Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.
Fourel G et al.
Febs Letters, 2020
De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.
Cai S et al.
Journal of Human Genetics, 2020
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
Sferra A et al.
Human Molecular Genetics, 2018
Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
Feng R et al.
The New England Journal of Medicine, 2016
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Cushion TD et al.
Brain : a Journal of Neurology, 2013
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