Associated Papers
Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.
Hwang S et al.
Journal of Human Genetics, 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
Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 Individuals.
Durizot M et al.
Pediatric Neurology, 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
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA et al.
Journal 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
Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing.
Moresco G et al.
Genes, 2024
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA et al.
Molecular Neurobiology, 2023
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots.
Ding Y et al.
Npj Genomic Medicine, 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
Child with Intellectual Disability and Seizures.
Kumar I et al.
Indian Journal of Pediatrics, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
TUBB3 E410K Syndrome With Childhood-Onset Nonalcoholic Steatohepatitis.
Mori J et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
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
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Whitman MC et al.
Human Genetics, 2021
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders.
Whitman MC
Annual Review of Vision Science, 2021
The Differential Roles for Neurodevelopmental and Neuroendocrine Genes in Shaping GnRH Neuron Physiology and Deficiency.
Oleari R et al.
International Journal of Molecular Sciences, 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
Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles.
Thomas MG et al.
International Journal of Molecular Sciences, 2021
A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype.
Soliani L et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2021
Genetics of hypogonadotropic hypogonadism.
Millar AC et al.
Translational Andrology and Urology, 2021
Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease.
Cangiano B et al.
Human Genetics, 2021
Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice.
Butz H et al.
Human Genetics, 2021
Kinetically Stabilizing Mutations in Beta Tubulins Create Isotype-Specific Brain Malformations.
Park K et al.
Frontiers in Cell and Developmental Biology, 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
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
The Mechanism of Tubulin Assembly into Microtubules: Insights from Structural Studies.
Knossow M et al.
Iscience, 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
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 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
A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator.
Stamou M et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Tubulin mutations in brain development disorders: Why haploinsufficiency does not explain TUBA1A tubulinopathies.
Aiken J et al.
Cytoskeleton (hoboken, N.j.), 2020
Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles.
Heidary G et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2019
Altered White Matter Organization in the TUBB3 E410K Syndrome.
Grant PE et al.
Cerebral Cortex (new York, N.y. : 1991), 2019
Epilepsy in Tubulinopathy: Personal Series and Literature Review.
Romaniello R et al.
Cells, 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
TUBB3 E410K syndrome with osteoporosis and cough syncope in a patient previously diagnosed with atypical Moebius syndrome.
Nakamura Y et al.
Brain & Development, 2018