Pathological tau aggregation is a primary neuropathological feature of many
neurodegenerative diseases. Intriguingly, despite the common presence of tau aggregates …

Systemic iron homeostasis needs to be tightly controlled, as both deficiency and excess iron
cause major global health concerns, such as iron deficiency anemia, hemochromatosis, etc …

The ever-growing compendium of genetic variants associated with human pathologies
demands new methods to study genotype–phenotype relationships in complex tissues in a …

Most genetic studies consider autism spectrum disorder (ASD) and developmental disorder
(DD) separately despite overwhelming comorbidity and shared genetic etiology. Here, we …

Scaffold attachment factor A (SAF-A) or hnRNP U is a nuclear RNA-binding protein with a
well-documented role in processing newly transcribed RNA. Recent studies also indicate …

Mutations in HNRNPH2 cause an X-linked neurodevelopmental disorder with features that
include developmental delay, motor function deficits, and seizures. More than 90% of …

Au-Kline syndrome (AKS) is a neurodevelopmental disorder associated with multiple
malformations and a characteristic facial gestalt. The first individuals ascertained carried de …

Heterogeneous nuclear ribonucleoprotein C (HNRNPC) is an essential, ubiquitously
abundant protein involved in mRNA processing. Genetic variants in other members of the …

Enhanced expression of the cold‐shock protein RNA binding motif 3 (RBM3) is highly
neuroprotective both in vitro and in vivo. Whilst upstream signalling pathways leading to …

Distal hereditary neuropathies and neuro motor diseases are complex neurological
phenotypes associated with pathogenic variants in a large number of genes, but in some the …