Associated Papers
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Tubulin CFEOM mutations both inhibit or activate kinesin motor activity.
Luchniak A et al.
Molecular Biology of the Cell, 2024
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA et al.
Molecular Neurobiology, 2023
TUBB3 and KIF21A in neurodevelopment and disease.
Puri D et al.
Frontiers in Neuroscience, 2023
Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders.
Jia H et al.
Orphanet Journal of Rare Diseases, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Dawidziuk M et al.
Genes, 2021
Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders.
Whitman MC
Annual Review of Vision Science, 2021
Revisiting the Role of ß-Tubulin in Drosophila Development: β-tubulin60D is not an Essential Gene, and its Novel Pin 1 Allele has a Tissue-Specific Dominant-Negative Impact.
Krishnan RK et al.
Frontiers in Cell and Developmental Biology, 2021
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
Tubulin mutations in brain development disorders: Why haploinsufficiency does not explain TUBA1A tubulinopathies.
Aiken J et al.
Cytoskeleton (hoboken, N.j.), 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
Distinct effects of tubulin isotype mutations on neurite growth in Caenorhabditis elegans.
Zheng C et al.
Molecular Biology of the Cell, 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
The congenital cranial dysinnervation disorders.
Gutowski NJ et al.
Archives of Disease in Childhood, 2015
Congenital and Genetic Ocular Motility Disorders: Update and Considerations.
Oystreck D
The American Orthoptic Journal, 2015
Clinical whole exome sequencing in child neurology practice.
Srivastava S et al.
Annals of Neurology, 2014
Microtubules and neurodevelopmental disease: the movers and the makers.
Breuss M et al.
Advances in Experimental Medicine and Biology, 2014
A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.
Stottmann RW et al.
Human Molecular Genetics, 2013
Congenital cranial dysinnervation disorders: a concept in evolution.
Bosley TM et al.
Current Opinion in Ophthalmology, 2013
β-Tubulin mutations that cause severe neuropathies disrupt axonal transport.
Niwa S et al.
The Embo Journal, 2013
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Cushion TD et al.
Brain : a Journal of Neurology, 2013
Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis.
Tischfield MA et al.
Bioscience Reports, 2010
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Tischfield MA et al.
Cell, 2010
The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease.
Graeber CP et al.
Seminars in Ophthalmology, 0
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