Malformations of cortical development (MCDs) compose a diverse range of disorders that
are common causes of neurodevelopmental delay and epilepsy. With improved imaging and …

Moebius syndrome (MBS) is a congenital, non-progressive facial and abducens nerve palsy
in the presence of full vertical gaze and may be associated with limb abnormalities and …

BACKGROUND AND PURPOSE: A number of recent studies have described malformations
of cortical development with mutations of components of microtubules and microtubule …

One set of missense mutations in the neuron specific beta tubulin isotype 3 (TUBB3) has
been reported to cause malformations of cortical development (MCD), while a second set …

Recent advances in molecular technology have led to the discovery of several genes related
to human malformations of cortical development (MCDs). The beta‐tubulin class III gene …

Recent studies have emphasized the association between tubulin gene mutations and
developmental abnormalities of the cortex. In this study, the authors identified a mutation in …

Methods: Asystematic literature search was performed using PUBMED for all English articles
up to April 2014. Although this review mainly focuses on published human studies, it also …

A multitude of protein activities contribute to the organization of cell type and cell cycle-
specific microtubule arrays. One key factor is the γ-tubulin ring complex (γTuRC), a …

Abstract Non-small Cell Lung Cancer (NSCLC) survival rates are dismal and chemotherapy
resistance is a significant clinical problem. 13111-tubulin (encoded by TUBB3 gene) is …

A number of complex ocular motility disorders are discussed in this chapter. The diversity of
these conditions reflects the need for the ophthalmologist to maintain a broad working …