Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

(2014) Nadia Bahi-Buisson et al.   BRAIN

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

(2013) Thomas D. Cushion et al.   BRAIN

A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease

(2013) Norikatsu Hikita et al.   BRAIN & DEVELOPMENT

Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis

(2013) Ginevra Zanni et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

A developmental and genetic classification for malformations of cortical development: update 2012

(2012) A. James Barkovich et al.   BRAIN

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

(2012) Louise Devisme et al.   BRAIN

Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation

(2012) Akihisa Okumura et al.   BRAIN & DEVELOPMENT

A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance

(2012) ROMINA ROMANIELLO et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

(2012) Renzo Guerrini et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

(2012) Karine Poirier et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

(2012) Gustav Y. Cederquist et al.   HUMAN MOLECULAR GENETICS

TUBA1A Mutation-Associated Lissencephaly: Case Report and Review of the Literature

(2012) Aman P.S. Sohal et al.   PEDIATRIC NEUROLOGY

Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

(2012) Martin Breuss et al.   Cell Reports

TUBA1A mutations: From isolated lissencephaly to familial polymicrogyria

(2011) A. C. Jansen et al.   NEUROLOGY

Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype

(2010) Magalie Lecourtois et al.   ACTA NEUROPATHOLOGICA

Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes

(2010) Pascale Marcorelles et al.   ACTA NEUROPATHOLOGICA

Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly

(2010) Gaëlle Friocourt et al.   ACTA NEUROPATHOLOGICA

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

(2010) Nadia Bahi-Buisson et al.   BRAIN

Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

(2010) Max A. Tischfield et al.   CELL

Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

(2010) Karine Poirier et al.   HUMAN MOLECULAR GENETICS

Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway

(2010) Guoling Tian et al.   HUMAN MOLECULAR GENETICS

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

(2010) Ravinesh A. Kumar et al.   HUMAN MOLECULAR GENETICS

Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia

(2009) Mohammad R. Abdollahi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

(2009) DJ Morris-Rosendahl et al.   CLINICAL GENETICS

GPR56-Regulated Granule Cell Adhesion Is Essential for Rostral Cerebellar Development

(2009) S. Koirala et al.   JOURNAL OF NEUROSCIENCE

Diversifying microtubules in brain development

(2009) Andrew P Jackson   NATURE GENETICS

Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

(2009) Xavier Hubert Jaglin et al.   NATURE GENETICS

Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects

(2009) Xavier H. Jaglin et al.   TRENDS IN GENETICS

Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A

(2008) Catherine Fallet-Bianco et al.   BRAIN

GPR56 Regulates Pial Basement Membrane Integrity and Cortical Lamination

(2008) S. Li et al.   JOURNAL OF NEUROSCIENCE

Development of the human cerebral cortex: Boulder Committee revisited

(2008) Irina Bystron et al.   NATURE REVIEWS NEUROSCIENCE