Associated Papers
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.
Sirchia F et al.
Pediatric Neurology, 2026
Clinical and MRI differences in congenital fibrosis of extraocular muscles patients with KIF21A and TUBB3 variants.
Wang D et al.
Japanese Journal of Ophthalmology, 2026
A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss.
Cao LY et al.
Ophthalmic Genetics, 2025
Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.
Lee AJ et al.
Journal of the Peripheral Nervous System : Jpns, 2025
Rare and Common Genomic Copy Number Variants Associated with Strabismus and Amblyopia in the All of Us Research Program.
Viola Lee KA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders.
Almpani K et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2025
Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan.
Ikegawa T et al.
Brain & Development, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA et al.
Molecular Neurobiology, 2023
MAPping tubulin mutations.
Cushion TD et al.
Frontiers in Cell and Developmental Biology, 2023
Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.
Bar O et al.
Frontiers in Neurology, 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
Congenital Fibrosis of the Extraocular Muscles: An Overview from Genetics to Management.
Xia W et al.
Children (basel, Switzerland), 2022
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.
Frisk S et al.
Molecular Genetics & Genomic Medicine, 2022
The molecular biology of tubulinopathies: Understanding the impact of variants on tubulin structure and microtubule regulation.
Hoff KJ et al.
Frontiers in Cellular Neuroscience, 2022
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Dawidziuk M et al.
Genes, 2021
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
A framework for the evaluation of patients with congenital facial weakness.
Webb BD et al.
Orphanet Journal of Rare Diseases, 2021
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.
Lehky T et al.
Muscle & Nerve, 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
The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.
Smith SC 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
The role of protein complexes in human genetic disease.
Bergendahl LT et al.
Protein Science : a Publication of the Protein Society, 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
Axons get ahead: Insights into axon guidance and congenital cranial dysinnervation disorders.
Chilton JK et al.
Developmental Neurobiology, 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
Mutations in Human Tubulin Proximal to the Kinesin-Binding Site Alter Dynamic Instability at Microtubule Plus- and Minus-Ends.
Ti SC et al.
Developmental Cell, 2016
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
Reversal of axonal growth defects in an extraocular fibrosis model by engineering the kinesin-microtubule interface.
Minoura I et al.
Nature Communications, 2016
TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.
Yokoi S et al.
Scientific Reports, 2015
Neurodegeneration and microtubule dynamics: death by a thousand cuts.
Dubey J et al.
Frontiers in Cellular Neuroscience, 2015
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
MacKinnon S et al.
Ophthalmology, 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
Microtubules and neurodevelopmental disease: the movers and the makers.
Breuss M et al.
Advances in Experimental Medicine and Biology, 2014
Congenital cranial dysinnervation disorders: a concept in evolution.
Bosley TM et al.
Current Opinion in Ophthalmology, 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
Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.
Tischfield MA et al.
Current Opinion in Genetics & Development, 2011
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