Microglia, the resident immune cells of the mammalian central nervous system (CNS), play a
pivotal role in both physiological and pathological conditions such as the restoration of CNS …

Aim The aim of this study was to assess the diagnostic approach to microcephaly in
childhood and to identify the prevalence of the various underlying causes/disease entities …

Autosomal recessive primary microcephaly (MCPH), historically referred to as Microcephalia
vera, is a genetically and clinically heterogeneous disease. Patients with MCPH typically …

The hypomyelinating leukodystrophies X-linked Pelizaeus-Merzbacher disease (PMD) and
Pelizaeus-Merzbacher–like disease (PMLD) are characterized by nystagmus, progressive …

Objective: Activated microglia play a central role in the inflammatory and excitotoxic
component of various acute and chronic neurological disorders. However, the mechanisms …

The developing brain is particularly vulnerable to reactive oxygen and reactive nitrogen
species–mediated damage because of its high concentrations of unsaturated fatty acids …

Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often
accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia …

Objective Sedative and anticonvulsant drugs, which inhibit N‐methyl‐d‐aspartate receptor–
mediated excitation or enhance GABA‐mediated action, may cause apoptotic …

Background Given the novelty of gene replacement therapy with onasemnogene
abeparvovec in spinal muscular atrophy, efficacy and safety data are limited, especially for …

Golgi staining remains a key method to study neuronal morphology in vivo. Since most
protocols delineating modifications of the original staining method lack details on critical …