Associated Papers
Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 Individuals.
Durizot M et al.
Pediatric Neurology, 2025
TUBB3 and KIF21A in neurodevelopment and disease.
Puri D et al.
Frontiers in Neuroscience, 2023
A Novel De Novo TUBB3 Variant Causing Developmental Delay, Epilepsy and Mild Ophthalmological Symptoms in a Chinese Child.
Xue J et al.
Journal of Molecular Neuroscience : Mn, 2022
Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.
Fourel G et al.
Febs Letters, 2020
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
Dentici ML et al.
American Journal of Medical Genetics. Part A, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Disease-associated mutations in human TUBB3 disturb netrin repulsive signaling.
Shao Q et al.
Plos One, 2019
Human TUBB3 Mutations Disrupt Netrin Attractive Signaling.
Huang H et al.
Neuroscience, 2018
Distinct effects of tubulin isotype mutations on neurite growth in Caenorhabditis elegans.
Zheng C et al.
Molecular Biology of the Cell, 2017
Novel mutations and structural deletions in TUBB8: expanding mutational and phenotypic spectrum of patients with arrest in oocyte maturation, fertilization or early embryonic development.
Chen B et al.
Human Reproduction (oxford, England), 2017
A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia.
Shimojima K et al.
American Journal of Medical Genetics. Part A, 2016
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
Whitman MC et al.
American Journal of Medical Genetics. Part A, 2016
Neurodegeneration and microtubule dynamics: death by a thousand cuts.
Dubey J et al.
Frontiers in Cellular Neuroscience, 2015
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Bahi-Buisson N et al.
Brain : a Journal of Neurology, 2014
Microtubules and neurodevelopmental disease: the movers and the makers.
Breuss M et al.
Advances in Experimental Medicine and Biology, 2014
Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.
Tischfield MA et al.
Current Opinion in Genetics & Development, 2011
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
Poirier K et al.
Human Molecular Genetics, 2010
Clinical heterogeneity associated with TUBB3 gene mutation in a Turkish family with congenital fibrosis of the extraocular muscles.
Ceylan AC et al.
Ophthalmic Genetics, 0