Malformations of cortical development: clinical features and genetic causes

R Guerrini, WB Dobyns - The Lancet Neurology, 2014 - thelancet.com
Malformations of cortical development are common causes of developmental delay and
epilepsy. Some patients have early, severe neurological impairment, but others have …

Directed migration of neural stem cells to sites of CNS injury by the stromal cell-derived factor 1α/CXC chemokine receptor 4 pathway

J Imitola, K Raddassi, KI Park… - Proceedings of the …, 2004 - National Acad Sciences
Migration toward pathology is the first critical step in stem cell engagement during
regeneration. Neural stem cells (NSCs) migrate through the parenchyma along …

Genetic basis of brain malformations

E Parrini, V Conti, WB Dobyns, R Guerrini - Molecular syndromology, 2016 - karger.com
Malformations of cortical development (MCD) represent a major cause of developmental
disabilities, severe epilepsy, and reproductive disadvantage. Genes that have been …

Epilepsy in children

R Guerrini - The Lancet, 2006 - thelancet.com
Summary 10· 5 million children worldwide are estimated to have active epilepsy. Over the
past 15 years, syndrome-oriented clinical and EEG diagnosis, and better aetiological …

The small G proteins of the Arf family and their regulators

AK Gillingham, S Munro - Annu. Rev. Cell Dev. Biol., 2007 - annualreviews.org
Small G proteins play a central role in the organization of the secretory and endocytic
pathways. The majority of such small G proteins are members of the Rab family, which are …

Membrane trafficking in health and disease

R Yarwood, J Hellicar… - Disease models & …, 2020 - journals.biologists.com
Membrane trafficking pathways are essential for the viability and growth of cells, and play a
major role in the interaction of cells with their environment. In this At a Glance article and …

X-linked mental retardation

HH Ropers, BCJ Hamel - Nature reviews genetics, 2005 - nature.com
Genetic factors have an important role in the aetiology of mental retardation. However, their
contribution is often underestimated because in developed countries, severely affected …

[HTML][HTML] Rab GTPases-dependent endocytic pathways regulate neuronal migration and maturation through N-cadherin trafficking

T Kawauchi, K Sekine, M Shikanai, K Chihama… - Neuron, 2010 - cell.com
Although membrane trafficking pathways are involved in basic cellular functions, the
evolutionally expanded number of their related family proteins suggests additional roles for …

[HTML][HTML] 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 …

How mechanisms of stem cell polarity shape the human cerebral cortex

MG Andrews, L Subramanian, J Salma… - Nature Reviews …, 2022 - nature.com
Apical–basal progenitor cell polarity establishes key features of the radial and laminar
architecture of the developing human cortex. The unique diversity of cortical stem cell …