Associated Papers
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.
Wu J et al.
Orphanet Journal of Rare Diseases, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Medrxiv : the Preprint Server for Health Sciences, 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
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Whitman MC et al.
Human Genetics, 2021
Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders.
Whitman MC
Annual Review of Vision Science, 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
Defects in Axonal Transport in Inherited Neuropathies.
Beijer D et al.
Journal of Neuromuscular Diseases, 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
Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.
Whitman MC et al.
Human Molecular Genetics, 2017
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
Whitman MC et al.
American Journal of Medical Genetics. Part A, 2016
Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
Feng R et al.
The New England Journal of Medicine, 2016
The congenital cranial dysinnervation disorders.
Gutowski NJ et al.
Archives of Disease in Childhood, 2015
A family with axonal sensorimotor polyneuropathy with TUBB3 mutation.
Hong YB et al.
Molecular Medicine Reports, 2015
Congenital and Genetic Ocular Motility Disorders: Update and Considerations.
Oystreck D
The American Orthoptic Journal, 2015
Genetic analysis of a novel tubulin mutation that redirects synaptic vesicle targeting and causes neurite degeneration in C. elegans.
Hsu JM et al.
Plos Genetics, 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
[The gene mutation screening of a family with congenital fibrosis of the extraocular muscles associated with corpus callosum agenesis].
Zhang JT et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of 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
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
Chew S et al.
Brain : a Journal of Neurology, 2013
Human disorders of axon guidance.
Nugent AA et al.
Current Opinion in Neurobiology, 2012
Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations.
Demer JL et al.
Investigative Ophthalmology & Visual Science, 2010
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
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