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

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3

(2013) Sheena Chew et al.   BRAIN

Complication begets clarification in classification

(2013) James Barkovich   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

Polymicrogyria with dysmorphic basal ganglia? Think tubulin!

(2013) D. Amrom et al.   CLINICAL GENETICS

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

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

(2013) Karine Poirier et al.   NATURE GENETICS

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

(2012) A. James Barkovich 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

Lissencephaly and Band Heterotopia: LIS1, TUBA1A, and DCX Mutations in Hungary

(2012) Attila Mokánszki et al.   JOURNAL OF CHILD NEUROLOGY

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

Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations

(2011) Max A Tischfield et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

(2010) Richard J. Leventer 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

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

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

(2010) Kaya Bilgüvar et al.   NATURE

Current concepts of polymicrogyria

(2010) A. James Barkovich   NEURORADIOLOGY

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

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

(2009) Xavier Hubert Jaglin et al.   NATURE GENETICS

Control of neuronal polarity and plasticity – a renaissance for microtubules?

(2009) Casper C. Hoogenraad et al.   TRENDS IN CELL BIOLOGY

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