A developmental and genetic classification for midbrain-hindbrain malformations
Advances in neuroimaging, developmental biology and molecular genetics have increased
the understanding of developmental disorders affecting the midbrain and hindbrain, both as …
the understanding of developmental disorders affecting the midbrain and hindbrain, both as …
Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects
XH Jaglin, J Chelly - Trends in Genetics, 2009 - cell.com
The fine tuning of proliferation and neurogenesis, neuronal migration and differentiation and
connectivity underlies the proper development of the cerebral cortex. Mutations in genes …
connectivity underlies the proper development of the cerebral cortex. Mutations in genes …
Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria
XH Jaglin, K Poirier, Y Saillour, E Buhler, G Tian… - Nature …, 2009 - nature.com
Polymicrogyria is a relatively common but poorly understood defect of cortical development
characterized by numerous small gyri and a thick disorganized cortical plate lacking normal …
characterized by numerous small gyri and a thick disorganized cortical plate lacking normal …
Mutation of the variant α-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia
MR Abdollahi, E Morrison, T Sirey, Z Molnar… - The American Journal of …, 2009 - cell.com
The critical importance of cytoskeletal function for correct neuronal migration during
development of the cerebral cortex has been underscored by the identities of germline …
development of the cerebral cortex has been underscored by the identities of germline …
Genetics and biology of microcephaly and lissencephaly
GH Mochida - Seminars in pediatric neurology, 2009 - Elsevier
Genetic microcephaly and lissencephaly are 2 of the most common brain malformations.
Each of them is a heterogeneous group of disorders caused by mutations of many different …
Each of them is a heterogeneous group of disorders caused by mutations of many different …
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity
Y Saillour, N Carion, C Quelin, PL Leger… - Archives of …, 2009 - jamanetwork.com
Objective With the largest data set of patients withLIS1-related lissencephaly, the major
cause of posteriorly predominant lissencephaly related to eitherLIS1mutation or intragenic …
cause of posteriorly predominant lissencephaly related to eitherLIS1mutation or intragenic …
Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain
DM Andrade - Human genetics, 2009 - Springer
Epilepsy is the most common neurological disorder affecting young people. The etiologies
are multiple and most cases are sporadic. However, some rare families with Mendelian …
are multiple and most cases are sporadic. However, some rare families with Mendelian …
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia
EV Haverfield, AJ Whited, KS Petras… - European journal of …, 2009 - nature.com
Classical lissencephaly, or isolated lissencephaly sequence (ILS), and subcortical band
heterotopia (SBH) are neuronal migration disorders associated with severe mental …
heterotopia (SBH) are neuronal migration disorders associated with severe mental …
Polarity regulation in migrating neurons in the cortex
The formation of the cerebral cortex requires migration of billions of cells from their birth
position to their final destination. A motile cell must have internal polarity in order to move in …
position to their final destination. A motile cell must have internal polarity in order to move in …
Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature.
A Chou, C Boerkoel, C Du Souich… - Clinical genetics, 2009 - search.ebscohost.com
The article focuses on the features and genetic aspects of classical lissencephaly. Classical
lissencephaly is a neuronal migration disorder and magnetic resonance imaging revealed …
lissencephaly is a neuronal migration disorder and magnetic resonance imaging revealed …