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 …

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings

CG Woods, J Bond, W Enard - The American Journal of Human Genetics, 2005 - cell.com
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder. It is
characterized by two principal features, microcephaly present at birth and nonprogressive …

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 …

Many roads lead to primary autosomal recessive microcephaly

AM Kaindl, S Passemard, P Kumar, N Kraemer… - Progress in …, 2010 - Elsevier
Autosomal recessive primary microcephaly (MCPH), historically referred to as Microcephalia
vera, is a genetically and clinically heterogeneous disease. Patients with MCPH typically …

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 …

The role of the inositol polyphosphate 5-phosphatases in cellular function and human disease

LM Ooms, KA Horan, P Rahman, G Seaton… - Biochemical …, 2009 - portlandpress.com
Phosphoinositides are membrane-bound signalling molecules that regulate cell proliferation
and survival, cytoskeletal reorganization and vesicular trafficking by recruiting effector …

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 …

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 …

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 …

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 …