Marianna Bugiani

TL;DR: In patients with lethal CO VID-19, an extensive systemic inflammatory response was present, with a continued presence of neutrophils and NETs, which suggests a maladaptive immune response and substantiates the evidence for immunomodulation as a target in the treatment of severe COVID-19.

TL;DR: A novel classification of leukodystrophies is proposed that takes into account the primary involvement of any white matter component, and Categories in this classification are the myelin disorders due to a primary defect in oligodendrocytes or myelin; astrocytopathies; leuko-axonopathies; microgliopathy; andLeuko-vasculopathies.

TL;DR: Results point to an important role for RA in the induction of the BBB during human and mouse development and in vitro experiments showing RA- and RARβ-dependent induction of different aspects of the brain EC barrier are corroborated.

TL;DR: Systematic MRI review revealed that the combination of hypomyelination with relative T2 hypointensity of the ventrolateral thalamus, optic radiation, globus pallidus, and dentate nucleus, cerebellar atrophy, and thinning of the corpus callosum suggests the diagnosis of 4H.

TL;DR: GFAP mutations are confirmed to be a reliable molecular marker for the diagnosis of infantile Alexander disease and form a basis for the recommendation of GFAP analysis for prenatal diagnosis to detect potential cases of germinal mosaicism.