The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene

(2018) Tatsuharu Sato et al.   BRAIN & DEVELOPMENT

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

(2018) Wojciech Wiszniewski et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

(2018) Nataliya Di Donato et al.   GENETICS IN MEDICINE

Near-atomic model of microtubule-tau interactions

(2018) Elizabeth H. Kellogg et al.   SCIENCE

Exome Pool-Seq in neurodevelopmental disorders

(2017) Bernt Popp et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

(2017) Romina Romaniello et al.   EUROPEAN RADIOLOGY

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

(2017) Nadine N Hauer et al.   GENETICS IN MEDICINE

Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature

(2017) Annalisa Mencarelli et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Distinct effects of tubulin isotype mutations on neurite growth in Caenorhabditis elegans

(2017) Chaogu Zheng et al.   MOLECULAR BIOLOGY OF THE CELL

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

(2016) Katherine L. Helbig et al.   GENETICS IN MEDICINE

Structure and Dynamics of Single-isoform Recombinant Neuronal Human Tubulin

(2016) Annapurna Vemu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

(2016) Stefan H Lelieveld et al.   NATURE NEUROSCIENCE

denovo-db: a compendium of humande novovariants

(2016) Tychele N. Turner et al.   NUCLEIC ACIDS RESEARCH

The Human Phenotype Ontology in 2017

(2016) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations

(2016) Yohei Bamba et al.   Molecular Brain

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation

(2015) Caroline Alby et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Molecular diagnostic experience of whole-exome sequencing in adult patients

(2015) Jennifer E. Posey et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

(2015) Renske Oegema et al.   HUMAN MOLECULAR GENETICS

Building the Neuronal Microtubule Cytoskeleton

(2015) Lukas C. Kapitein et al.   NEURON

TUBA1A Mutation Associated With Eye Abnormalities in Addition to Brain Malformation

(2015) Kenneth A. Myers et al.   PEDIATRIC NEUROLOGY

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation

(2015) Caroline Alby et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis

(2015) Setsuri Yokoi et al.   Scientific Reports

De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy

(2014) Thomas D. Cushion et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2014) Nadia Bahi-Buisson et al.   BRAIN

Brain malformations and mutations inα- andβ-tubulin genes: a review of the literature and description of two new cases

(2014) Romina Romaniello et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

DTI tractography of lissencephaly caused by TUBA1A mutation

(2014) Kouhei Kamiya et al.   NEUROLOGICAL SCIENCES

Axonal Transport: Cargo-Specific Mechanisms of Motility and Regulation

(2014) Sandra Maday et al.   NEURON

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

(2014) Catherine Fallet-Bianco et al.   Acta Neuropathologica Communications

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

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

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

(2013) Karine Poirier et al.   NATURE GENETICS

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

(2012) Akihisa Okumura et al.   BRAIN & DEVELOPMENT

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

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

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

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

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

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

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

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

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

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth 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

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

(2008) Catherine Fallet-Bianco et al.   BRAIN

Tubulin modifications and their cellular functions

(2008) Jennetta W Hammond et al.   CURRENT OPINION IN CELL BIOLOGY