none49siWe report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tubulin isotype III, result in a spectrum of human nervous system disorders that we now call the TUBB3 syndromes. Each mutation causes the ocular motility disorder CFEOM3, whereas some also result in intellectual and behavioral impairments, facial paralysis, and/or later-onset axonal sensorimotor polyneuropathy. Neuroimaging reveals a spectrum of abnormalities including hypoplasia of oculomotor nerves and dysgenesis of the corpus callosum, anterior commissure, and corticospinal tracts. A knock-in disease mouse model reveals axon guidance defects without evidence of cortical cell migration abnormalities. We show that the disease-associate...
AbstractMutations in the microtubule cytoskeleton are linked to cognitive and locomotor defects duri...
The microtubule network is crucial for the developing nervous system, and mutations in tubulin-encod...
International audienceMalformations of Cortical Development (MCDs) are a group of severe brain malfo...
We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tub...
We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tub...
We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tub...
We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tub...
We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tub...
We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tub...
SummaryWe report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific β...
Eight heterozygous missense muta- tions in TUBB3, encoding the neuron-specific b-tubulin isotype III...
Eight heterozygous missense muta- tions in TUBB3, encoding the neuron-specific b-tubulin isotype III...
Eight heterozygous missense muta- tions in TUBB3, encoding the neuron-specific b-tubulin isotype III...
Eight heterozygous missense muta- tions in TUBB3, encoding the neuron-specific b-tubulin isotype III...
Neuronal migration and axon growth and guidance require precise control of microtubule dynamics and ...
AbstractMutations in the microtubule cytoskeleton are linked to cognitive and locomotor defects duri...
The microtubule network is crucial for the developing nervous system, and mutations in tubulin-encod...
International audienceMalformations of Cortical Development (MCDs) are a group of severe brain malfo...
We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tub...
We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tub...
We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tub...
We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tub...
We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tub...
We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tub...
SummaryWe report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific β...
Eight heterozygous missense muta- tions in TUBB3, encoding the neuron-specific b-tubulin isotype III...
Eight heterozygous missense muta- tions in TUBB3, encoding the neuron-specific b-tubulin isotype III...
Eight heterozygous missense muta- tions in TUBB3, encoding the neuron-specific b-tubulin isotype III...
Eight heterozygous missense muta- tions in TUBB3, encoding the neuron-specific b-tubulin isotype III...
Neuronal migration and axon growth and guidance require precise control of microtubule dynamics and ...
AbstractMutations in the microtubule cytoskeleton are linked to cognitive and locomotor defects duri...
The microtubule network is crucial for the developing nervous system, and mutations in tubulin-encod...
International audienceMalformations of Cortical Development (MCDs) are a group of severe brain malfo...