Axonal transport is essential for neuronal function, and many neurodevelopmental and
neurodegenerative diseases result from mutations in the axonal transport machinery …

Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …

Exome sequencing is an effective strategy for identifying human disease genes. However,
this methodology is difficult in late-onset diseases where limited availability of DNA from …

Neurons depend on the highly dynamic microtubule (MT) cytoskeleton for many different
processes during early embryonic development including cell division and migration …

The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral
hemispheres, and thereby facilitating the integration of motor and sensory information from …

We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-
specific β-tubulin isotype III, result in a spectrum of human nervous system disorders that we …

Complex cortical malformations associated with mutations in tubulin genes: TUBA1A,
TUBA8, TUBB2B, TUBB3, TUBB5 and TUBG1 commonly referred to as tubulinopathies, are …

Neurons are particularly susceptible to microtubule (MT) defects and deregulation of the MT
cytoskeleton is considered to be a common insult during the pathogenesis of …

The genetic causes of malformations of cortical development (MCD) remain largely
unknown. Here we report the discovery of multiple pathogenic missense mutations in …

Microtubules form important cytoskeletal structures that play a role in establishing and
maintaining neuronal polarity, regulating neuronal morphology, transporting cargo, and …