Associated Papers
Craniosynostosis Associated With Novel TUBG1 Mutation (NM_001070.4:c.821C>T) (p.Thr274Ile).
Ash AS et al.
Cureus, 2024
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA et al.
Molecular Neurobiology, 2023
A novel TUBG1 mutation with neurodevelopmental disorder caused by malformations of cortical development.
Shen R et al.
Biomed Research International, 2021
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6
Insights into photoreceptor ciliogenesis revealed by animal models.
Baehr W et al.
Progress in Retinal and Eye Research, 2019
Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations.
Yuen YTK et al.
Bmc Medical Genetics, 2019
TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.
Ivanova EL et al.
Nature Communications, 2019
Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.
Brock S et al.
European Journal of Human Genetics : Ejhg, 2018
Recurrent KIF2A mutations are responsible for classic lissencephaly.
Cavallin M et al.
Neurogenetics, 2017
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
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Poirier K et al.
Nature Genetics, 2013
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