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 …
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 …
kingdom and is thought to have promoted our adaptability and success as a species. One …
Molecular genetics of human primary microcephaly: an overview
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that
is characterised by microcephaly present at birth and non-progressive mental retardation …
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
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 …
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
Primary microcephaly (MCPH) is an autosomal-recessive congenital disorder characterized
by smaller-than-normal brain size and mental retardation. MCPH is genetically …
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 …
without other syndromic abnormalities. Seven autosomal loci have been genetically …
Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum
Abstract Autosomal Recessive Primary Microcephaly (MCPH) is a rare disorder of
neurogenic mitosis characterized by reduced head circumference at birth with variable …
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 …
neurodevelopmental disorder characterized by a marked reduction in brain size and …
What primary microcephaly can tell us about brain growth
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 …
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 …
commonest cause of autosomal recessive primary microcephaly (MCPH) a disorder …