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 …

Primary microcephaly: do all roads lead to Rome?

GK Thornton, CG Woods - Trends in Genetics, 2009 - cell.com
The relatively large brain and expanded cerebral cortex of humans is unusual in the animal
kingdom and is thought to have promoted our adaptability and success as a species. One …

Molecular genetics of human primary microcephaly: an overview

M Faheem, MI Naseer, M Rasool, AG Chaudhary… - BMC medical …, 2015 - Springer
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that
is characterised by microcephaly present at birth and non-progressive mental retardation …

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

TW Yu, GH Mochida, DJ Tischfield, SK Sgaier… - Nature …, 2010 - nature.com
Genes associated with human microcephaly, a condition characterized by a small brain,
include critical regulators of proliferation, cell fate and DNA repair. We describe a syndrome …

Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly

A Kumar, SC Girimaji, MR Duvvari… - The American Journal of …, 2009 - cell.com
Primary microcephaly (MCPH) is an autosomal-recessive congenital disorder characterized
by smaller-than-normal brain size and mental retardation. MCPH is genetically …

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4

DL Guernsey, H Jiang, J Hussin, M Arnold… - The American Journal of …, 2010 - cell.com
Primary microcephaly is a rare condition in which brain size is substantially diminished
without other syndromic abnormalities. Seven autosomal loci have been genetically …

Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

S Mahmood, W Ahmad, MJ Hassan - Orphanet journal of rare diseases, 2011 - Springer
Abstract Autosomal Recessive Primary Microcephaly (MCPH) is a rare disorder of
neurogenic mitosis characterized by reduced head circumference at birth with variable …

Molecular and cellular basis of autosomal recessive primary microcephaly

M Barbelanne, WY Tsang - BioMed research international, 2014 - Wiley Online Library
Autosomal recessive primary microcephaly (MCPH) is a rare hereditary
neurodevelopmental disorder characterized by a marked reduction in brain size and …

What primary microcephaly can tell us about brain growth

J Cox, AP Jackson, J Bond, CG Woods - Trends in molecular medicine, 2006 - cell.com
Autosomal recessive primary microcephaly (MCPH) is a neuro-developmental disorder that
causes a great reduction in brain growth in utero. MCPH is hypothesized to be a primary …

Human ASPM participates in spindle organisation, spindle orientation and cytokinesis

J Higgins, C Midgley, AM Bergh, SM Bell, JM Askham… - BMC cell biology, 2010 - Springer
Background Mutations in the A bnormal Sp indle M icrocephaly related gene (ASPM) are the
commonest cause of autosomal recessive primary microcephaly (MCPH) a disorder …