Definitions and classification of malformations of cortical development: practical guidelines

M Severino, AF Geraldo, N Utz, D Tortora, I Pogledic… - Brain, 2020 - academic.oup.com
Malformations of cortical development are a group of rare disorders commonly manifesting
with developmental delay, cerebral palsy or seizures. The neurological outcome is …

Deconstructing cortical folding: genetic, cellular and mechanical determinants

C Llinares-Benadero, V Borrell - Nature Reviews Neuroscience, 2019 - nature.com
Folding of the cerebral cortex is a fundamental milestone of mammalian brain evolution and
is associated with dramatic increases in size and complexity. New animal models, genetic …

International consensus recommendations on the diagnostic work-up for malformations of cortical development

R Oegema, TS Barakat, M Wilke, K Stouffs… - Nature Reviews …, 2020 - nature.com
Malformations of cortical development (MCDs) are neurodevelopmental disorders that result
from abnormal development of the cerebral cortex in utero. MCDs place a substantial …

Mapping the molecular and cellular complexity of cortical malformations

E Klingler, F Francis, D Jabaudon, S Cappello - Science, 2021 - science.org
INTRODUCTION The cerebral cortex, or neocortex, is critical to key mammalian skills such
as language, sociability, and sensorimotor control. This structure consists of dozens of …

New insights into the mechanism of dynein motor regulation by lissencephaly-1

SM Markus, MG Marzo, RJ McKenney - Elife, 2020 - elifesciences.org
Lissencephaly ('smooth brain') is a severe brain disease associated with numerous
symptoms, including cognitive impairment, and shortened lifespan. The main causative …

Beyond the exome: the non-coding genome and enhancers in neurodevelopmental disorders and malformations of cortical development

E Perenthaler, S Yousefi, E Niggl… - Frontiers in cellular …, 2019 - frontiersin.org
The development of the human cerebral cortex is a complex and dynamic process, in which
neural stem cell proliferation, neuronal migration, and post-migratory neuronal organization …

The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

LL Becker, HS Dafsari, J Schallner, D Abdin… - Journal of human …, 2020 - nature.com
Mutations in the cytoplasmic dynein 1 heavy chain gene (DYNC1H1) have been identified in
rare neuromuscular (NMD) and neurodevelopmental (NDD) disorders such as spinal …

Lissencephaly: update on diagnostics and clinical management

M Koenig, WB Dobyns, N Di Donato - European Journal of Paediatric …, 2021 - Elsevier
Lissencephaly represents a spectrum of rare malformations of cortical development
including agyria, pachygyria and subcortical band heterotopia. The progress in molecular …

Linking cell polarity to cortical development and malformations

J Hakanen, N Ruiz-Reig, F Tissir - Frontiers in cellular neuroscience, 2019 - frontiersin.org
Cell polarity refers to the asymmetric distribution of signaling molecules, cellular organelles,
and cytoskeleton in a cell. Neural progenitors and neurons are highly polarized cells in …

De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism

M Riva, S Ferreira, K Hayashi, Y Saillour… - The Journal of Clinical …, 2024 - jci.org
Reelin (RELN) is a secreted glycoprotein essential for cerebral cortex development. In
humans, recessive RELN variants cause cortical and cerebellar malformations, while …