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
Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.
Xiang J et al.
Orphanet Journal of Rare Diseases, 2024
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA et al.
Molecular Neurobiology, 2023
Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.
Attard TJ et al.
Plos Computational Biology, 2022
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
Schröter J et al.
European Journal of Human Genetics : Ejhg, 2022
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
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Jin SC et al.
Nature Genetics, 2020
The role of protein complexes in human genetic disease.
Bergendahl LT et al.
Protein Science : a Publication of the Protein Society, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M et al.
Orphanet Journal of Rare Diseases, 2019
The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend.
Aiken J et al.
Journal of Developmental Biology, 2017
In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations.
Bamba Y et al.
Molecular Brain, 2016
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Bahi-Buisson N et al.
Brain : a Journal of Neurology, 2014
Paclitaxel resistance by random mutagenesis of α-tubulin.
Yin S et al.
Cytoskeleton (hoboken, N.j.), 2013
TUBA1A mutation-associated lissencephaly: case report and review of the literature.
Sohal AP et al.
Pediatric Neurology, 2012
Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.
Friocourt G et al.
Acta Neuropathologica, 2011
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
Kumar RA et al.
Human Molecular Genetics, 2010