Associated Papers
TUBA1A-related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures.
Ng AC et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Steyaert W et al.
Genome Research, 2025
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Steyaert W et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
Kunisetty B et al.
Investigative Ophthalmology & Visual Science, 2024
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA et al.
Molecular Neurobiology, 2023
Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.
Attard TJ et al.
Plos Computational Biology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
Schröter J et al.
European Journal of Human Genetics : Ejhg, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.
Fourel G et al.
Febs Letters, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M et al.
Orphanet Journal of Rare Diseases, 2019
Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.
Gardner JF et al.
Brain Sciences, 2018
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend.
Aiken J et al.
Journal of Developmental Biology, 2017
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
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
Oegema R et al.
Human Molecular Genetics, 2015
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
Fallet-Bianco C et al.
Acta Neuropathologica Communications, 2014
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Bahi-Buisson N et al.
Brain : a Journal of Neurology, 2014