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 …

The genetics of primary microcephaly

D Jayaraman, BI Bae, CA Walsh - Annual review of genomics …, 2018 - annualreviews.org
Primary microcephaly (MCPH, for “microcephaly primary hereditary”) is a disorder of brain
development that results in a head circumference more than 3 standard deviations below …

[图书][B] Volpe's Neurology of the Newborn

JJ Volpe, TE Inder, BT Darras, LS de Vries… - 2017 - books.google.com
A clear, engaging writing style, hundreds of full-color images, and new information
throughout make Volpe's Neurology of the Newborn, 6th Edition, an indispensable resource …

The role of the microtubule cytoskeleton in neurodevelopmental disorders

M Lasser, J Tiber, LA Lowery - Frontiers in cellular neuroscience, 2018 - frontiersin.org
Neurons depend on the highly dynamic microtubule (MT) cytoskeleton for many different
processes during early embryonic development including cell division and migration …

Recognition, signaling, and repair of DNA double-strand breaks produced by ionizing radiation in mammalian cells: the molecular choreography

LH Thompson - Mutation Research/Reviews in Mutation Research, 2012 - Elsevier
The faithful maintenance of chromosome continuity in human cells during DNA replication
and repair is critical for preventing the conversion of normal diploid cells to an oncogenic …

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 …

Condensins: universal organizers of chromosomes with diverse functions

T Hirano - Genes & development, 2012 - genesdev.cshlp.org
Condensins are multisubunit protein complexes that play a fundamental role in the structural
and functional organization of chromosomes in the three domains of life. Most eukaryotic …

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 …

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 …

Neurodevelopmental protein Musashi-1 interacts with the Zika genome and promotes viral replication

PL Chavali, L Stojic, LW Meredith, N Joseph… - Science, 2017 - science.org
A recent outbreak of Zika virus in Brazil has led to a simultaneous increase in reports of
neonatal microcephaly. Zika targets cerebral neural precursors, a cell population essential …