Associated Papers
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
Prenatal evaluation of genetic variants in fetuses with small head circumference: A single-center retrospective study.
Liu J et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2024
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Kooshavar D et al.
Brain Communications, 2024
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA et al.
Molecular Neurobiology, 2023
Structural Organization of the Retriever-CCC Endosomal Recycling Complex.
Boesch DJ et al.
Research Square, 2023
Structural Organization of the Retriever-CCC Endosomal Recycling Complex.
Boesch DJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.
Attard TJ et al.
Plos Computational Biology, 2022
Cancer-driving mutations are enriched in genic regions intolerant to germline variation.
Vitsios D et al.
Science Advances, 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
Loss-of-Function Plays a Major Role in Early Neurogenesis of Tubulin α-1 A (TUBA1A) Mutation-Related Brain Malformations.
Xie L et al.
Molecular Neurobiology, 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
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Jin SC et al.
Nature Genetics, 2020
Tubulin mutations in brain development disorders: Why haploinsufficiency does not explain TUBA1A tubulinopathies.
Aiken J et al.
Cytoskeleton (hoboken, N.j.), 2020
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
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Di Donato N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.
Gardner JF et al.
Brain Sciences, 2018
Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.
Mencarelli A et al.
International Journal of Molecular Sciences, 2017
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
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 tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
Fallet-Bianco C et al.
Acta Neuropathologica Communications, 2014
Microtubules and neurodevelopmental disease: the movers and the makers.
Breuss M et al.
Advances in Experimental Medicine and Biology, 2014
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
Poirier K et al.
European Journal of Human Genetics : Ejhg, 2013
TUBA1A mutation-associated lissencephaly: case report and review of the literature.
Sohal AP et al.
Pediatric Neurology, 2012
Cytoarchitectural disruption of the superior colliculus and an enlarged acoustic startle response in the Tuba1a mutant mouse.
Edwards A et al.
Neuroscience, 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
Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype.
Lecourtois M et al.
Acta Neuropathologica, 2010
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
Morris-Rosendahl DJ et al.
Clinical Genetics, 2008
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.
Bahi-Buisson N et al.
Journal of Medical Genetics, 2008
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.
Fallet-Bianco C et al.
Brain : a Journal of Neurology, 2008