A developmental and genetic classification for malformations of cortical development: update 2012

AJ Barkovich, R Guerrini, RI Kuzniecky, GD Jackson… - Brain, 2012 - academic.oup.com
Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …

The role of the microtubule cytoskeleton in neurodevelopmental disorders

M Lasser, J Tiber, LA Lowery - Frontiers in cellular neuroscience, 2018 - frontiersin.org
Neurons depend on the highly dynamic microtubule (MT) cytoskeleton for many different
processes during early embryonic development including cell division and migration …

The functional landscape of the human phosphoproteome

D Ochoa, AF Jarnuczak, C Viéitez, M Gehre… - Nature …, 2020 - nature.com
Protein phosphorylation is a key post-translational modification regulating protein function in
almost all cellular processes. Although tens of thousands of phosphorylation sites have …

Congenital Zika virus infection: beyond neonatal microcephaly

AS de Oliveira Melo, RS Aguiar, MMR Amorim… - JAMA …, 2016 - jamanetwork.com
Importance Recent studies have reported an increase in the number of fetuses and
neonates with microcephaly whose mothers were infected with the Zika virus (ZIKV) during …

[HTML][HTML] Reelin functions, mechanisms of action and signaling pathways during brain development and maturation

Y Jossin - Biomolecules, 2020 - mdpi.com
During embryonic development and adulthood, Reelin exerts several important functions in
the brain including the regulation of neuronal migration, dendritic growth and branching …

Cerebral cortex expansion and folding: what have we learned?

V Fernández, C Llinares‐Benadero, V Borrell - The EMBO journal, 2016 - embopress.org
One of the most prominent features of the human brain is the fabulous size of the cerebral
cortex and its intricate folding. Cortical folding takes place during embryonic development …

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

N Bahi-Buisson, K Poirier, F Fourniol, Y Saillour… - Brain, 2014 - academic.oup.com
Complex cortical malformations associated with mutations in tubulin genes: TUBA1A,
TUBA8, TUBB2B, TUBB3, TUBB5 and TUBG1 commonly referred to as tubulinopathies, are …

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

K Poirier, N Lebrun, L Broix, G Tian, Y Saillour… - Nature …, 2013 - nature.com
The genetic causes of malformations of cortical development (MCD) remain largely
unknown. Here we report the discovery of multiple pathogenic missense mutations in …

Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology

CL van Eyk, MC Fahey, J Gecz - Nature Reviews Neurology, 2023 - nature.com
Cerebral palsy is a clinical descriptor covering a diverse group of permanent, non-
degenerative disorders of motor function. Around one-third of cases have now been shown …

Cortical malformations: lessons in human brain development

L Subramanian, ME Calcagnotto… - Frontiers in cellular …, 2020 - frontiersin.org
Creating a functional cerebral cortex requires a series of complex and well-coordinated
developmental steps. These steps have evolved across species with the emergence of …