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 …

Genetics and mechanisms leading to human cortical malformations

DM Romero, N Bahi-Buisson, F Francis - Seminars in cell & developmental …, 2018 - Elsevier
Cerebral cortical development involves a complex series of highly regulated steps to
generate the laminated structure of the adult neocortex. Neuronal migration is a key part of …

Genomic dissection of bipolar disorder and schizophrenia, including 28 subphenotypes

DM Ruderfer, S Ripke, A McQuillin, J Boocock… - Cell, 2018 - cell.com
Schizophrenia and bipolar disorder are two distinct diagnoses that share symptomology.
Understanding the genetic factors contributing to the shared and disorder-specific symptoms …

[图书][B] Greenfield's Neuropathology-Two Volume Set

S Love, A Perry, J Ironside, H Budka - 2018 - books.google.com
Greenfield's Neuropathology, the world's leading neuropathology reference, provides a
comprehensive account of the pathological findings in neurological disease, their biological …

Untangling cortical complexity during development

T Mukhtar, V Taylor - Journal of experimental neuroscience, 2018 - journals.sagepub.com
The cerebral cortex is composed of billions of morphologically and functionally distinct
neurons. These neurons are produced and organized in a regimental fashion during …

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

EL Heinzen, AC O'Neill, X Zhu, AS Allen, M Bahlo… - PLoS …, 2018 - journals.plos.org
Periventricular nodular heterotopia (PVNH) is a malformation of cortical development
commonly associated with epilepsy. We exome sequenced 202 individuals with sporadic …

BIG1/Arfgef1 and Arf1 regulate the initiation of myelination by Schwann cells in mice

Y Miyamoto, T Torii, K Tago, A Tanoue… - Science …, 2018 - science.org
During development of the peripheral nervous system in mammals, Schwann cells wrap
their plasma membranes around neuronal axons, forming multiple myelin sheaths. A mature …

Mob2 insufficiency disrupts neuronal migration in the developing cortex

AC O'Neill, C Kyrousi, M Einsiedler… - Frontiers in Cellular …, 2018 - frontiersin.org
Disorders of neuronal mispositioning during brain development are phenotypically
heterogeneous and their genetic causes remain largely unknown. Here, we report biallelic …

Nervous system malformations

J Gaitanis, T Tarui - CONTINUUM: Lifelong Learning in Neurology, 2018 - journals.lww.com
PURPOSE OF REVIEW This article provides an overview of genetic metabolic disorders that
can be identified by metabolic tests readily available to neurologists, such as tests for …

Astroglial vesicular network: evolutionary trends, physiology and pathophysiology

R Zorec, V Parpura, A Verkhratsky - Acta Physiologica, 2018 - Wiley Online Library
Intracellular organelles, including secretory vesicles, emerged when eukaryotic cells
evolved some 3 billion years ago. The primordial organelles that evolved in Archaea were …