Somatic mosaicism and neurodevelopmental disease

AM D'Gama, CA Walsh - Nature neuroscience, 2018 - nature.com
Traditionally, we have considered genetic mutations that cause neurodevelopmental
diseases to be inherited or de novo germline mutations. Recently, we have come to …

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 …

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 …

[KNJIGA][B] Pediatric neuroimaging

AJ Barkovich - 2005 - books.google.com
The thoroughly updated Fourth Edition of this acclaimed reference describes and illustrates
the full range of pediatric disorders diagnosable by modern neuroimaging. This edition …

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 …

Cell migration in the forebrain

O Marín, JLR Rubenstein - Annual review of neuroscience, 2003 - annualreviews.org
▪ Abstract The forebrain comprises an intricate set of structures that are required for some of
the most complex and evolved functions of the mammalian brain. As a reflection of its …

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 …

Protein translation rate determines neocortical neuron fate

E Borisova, AG Newman, M Couce Iglesias… - Nature …, 2024 - nature.com
The mammalian neocortex comprises an enormous diversity regarding cell types,
morphology, and connectivity. In this work, we discover a post-transcriptional mechanism of …

The many faces of filamin: a versatile molecular scaffold for cell motility and signalling

Y Feng, CA Walsh - Nature cell biology, 2004 - nature.com
Filamins were discovered as the first family of non-muscle actin-binding protein. They are
lage cytoplasmic proteins that cross-link cortical actin into a dynamic three-dimensional …

The dual role of filamin A in cancer: can't live with (too much of) it, can't live without it

RM Savoy, PM Ghosh - Endocrine-related cancer, 2013 - erc.bioscientifica.com
Filamin A (FlnA) has been associated with actin as cytoskeleton regulator. Recently its role
in the cell has come under scrutiny for FlnA's involvement in cancer development. FlnA was …