Associated Papers
Molecular simulations of paclitaxel binding to mutant β-tubulin: insights into chemotherapy resistance.
Vottero P et al.
Journal of Computer-aided Molecular Design, 2025
A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders.
Di Pasquale G et al.
Frontiers in Cellular Neuroscience, 2025
The role of genetic testing in adult patients with unexplained epilepsy.
Chung CT et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2024
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
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA et al.
Molecular Neurobiology, 2023
Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy.
Schröter J et al.
Stem Cell Research, 2022
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation.
Ragoussis V et al.
Journal of Medical Genetics, 2022
Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic.
Trakadis Y et al.
Neurogenetics, 2021
Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg.
Schmidt L et al.
Molecular Syndromology, 2021
Defining the phenotypical spectrum associated with variants in TUBB2A.
Brock S et al.
Journal of Medical Genetics, 2021
De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.
Cai S et al.
Journal of Human Genetics, 2020
Germline Predisposition and Copy Number Alteration in Pre-stage Lung Adenocarcinomas Presenting as Ground-Glass Nodules.
Ren Y et al.
Frontiers in Oncology, 2019
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
Sferra A et al.
Human Molecular Genetics, 2018
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.
Ejaz R et al.
American Journal of Medical Genetics. Part A, 2017
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.
Rodan LH et al.
Journal of Child Neurology, 2017
De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
Cushion TD et al.
American Journal of Human Genetics, 2014