Fundamental elements in autism: from neurogenesis and neurite growth to synaptic plasticity
Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders with a high
prevalence and impact on society. ASDs are characterized by deficits in both social behavior …
prevalence and impact on society. ASDs are characterized by deficits in both social behavior …
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 …
ASPM is a major determinant of cerebral cortical size
J Bond, E Roberts, GH Mochida, DJ Hampshire… - Nature …, 2002 - nature.com
One of the most notable trends in mammalian evolution is the massive increase in size of the
cerebral cortex, especially in primates. Humans with autosomal recessive primary …
cerebral cortex, especially in primates. Humans with autosomal recessive primary …
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size
J Bond, E Roberts, K Springell, S Lizarraga, S Scott… - Nature …, 2005 - nature.com
Autosomal recessive primary microcephaly is a potential model in which to research genes
involved in human brain growth. We show that two forms of the disorder result from …
involved in human brain growth. We show that two forms of the disorder result from …
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder. It is
characterized by two principal features, microcephaly present at birth and nonprogressive …
characterized by two principal features, microcephaly present at birth and nonprogressive …
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 …
WDR62 is associated with the spindle pole and is mutated in human microcephaly
AK Nicholas, M Khurshid, J Désir, OP Carvalho… - Nature …, 2010 - nature.com
Autosomal recessive primary microcephaly (MCPH) is a disorder of neurodevelopment
resulting in a small brain,. We identified WDR62 as the second most common cause of …
resulting in a small brain,. We identified WDR62 as the second most common cause of …
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex
Disruption of human neural precursor proliferation can give rise to a small brain
(microcephaly), and failure of neurons to migrate properly can lead to an abnormal arrest of …
(microcephaly), and failure of neurons to migrate properly can lead to an abnormal arrest of …
A primary microcephaly protein complex forms a ring around parental centrioles
JH Sir, AR Barr, AK Nicholas, OP Carvalho… - Nature …, 2011 - nature.com
Autosomal recessive primary microcephaly (MCPH) is characterized by a substantial
reduction in prenatal human brain growth without alteration of the cerebral architecture and …
reduction in prenatal human brain growth without alteration of the cerebral architecture and …
Human microcephaly
CG Woods - Current opinion in neurobiology, 2004 - Elsevier
Microcephaly is defined as a reduction in head circumference and this clinical finding infers
that an individual has a significant diminution in brain volume. Microcephaly can be usefully …
that an individual has a significant diminution in brain volume. Microcephaly can be usefully …