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

Cerebellar and Brainstem Malformations

(2016) Andrea Poretti et al.   NEUROIMAGING CLINICS OF NORTH AMERICA

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

Mutations in α- and β-tubulin encoding genes: Implications in brain malformations

(2015) Romina Romaniello et al.   BRAIN & DEVELOPMENT

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

The expression oftubb2bundergoes a developmental transition in murine cortical neurons

(2015) Martin Breuss et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessiveWNT1mutations

(2015) Kimberly A Aldinger et al.   JOURNAL OF MEDICAL GENETICS

Congenital Abnormalities of the Posterior Fossa

(2015) Thangamadhan Bosemani et al.   RADIOGRAPHICS

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

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

(2014) Nadia Bahi-Buisson et al.   BRAIN

Developmental Gene Expression Profile of Axon Guidance Cues in Purkinje Cells During Cerebellar Circuit Formation

(2014) Véronique Saywell et al.   CEREBELLUM

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

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

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

Direct binding of TUBB3 with DCC couples netrin-1 signaling to intracellular microtubule dynamics in axon outgrowth and guidance

(2013) C. Qu et al.   JOURNAL OF CELL SCIENCE

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

(2012) A. James Barkovich et al.   BRAIN

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

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

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

Collapsin Response Mediator Proteins (CRMPs) Are a New Class of Microtubule-associated Protein (MAP) That Selectively Interacts with Assembled Microtubules via a Taxol-sensitive Binding Interaction

(2011) Pao-Chun Lin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Molecular Control of Axon Branching

(2011) Parizad M. Bilimoria et al.   NEUROSCIENTIST

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

(2010) Max A. Tischfield et al.   CELL

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

Fyn promotes phosphorylation of collapsin response mediator protein 1 at tyrosine 504, a novel, isoform-specific regulatory site

(2010) Gwen R. Buel et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

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

(2009) Xavier Hubert Jaglin et al.   NATURE GENETICS