The dystonias are a group of disorders characterized by excessive contraction of muscles
leading to abnormal involuntary movements. The clinical manifestations are very …

Up to 40% of neurodevelopmental disorders (NDDs) such as intellectual disability,
developmental delay, autism spectrum disorder, and developmental motor abnormalities …

Abstract Human Phenotype Ontology (HPO) terms are increasingly used in diagnostic
settings to aid in the characterization of patient phenotypes. The HPO annotation database …

Maternal immune activation (MIA) puts offspring at greater risk for neurodevelopmental
disorders associated with impaired social behavior. While it is known that immune signaling …

The 5q deletion syndrome is a relatively rare condition caused by the monoallelic interstitial
deletion of the long arm of chromosome 5. Patients described in literature usually present …

Summary Calcium (Ca 2+) is a universal second messenger involved in synaptogenesis
and cell survival; consequently, its regulation is important for neurons. ATPase plasma …

Background RNA editing is a process that increases transcriptome diversity, often through
Adenosine Deaminases Acting on RNA (ADARs) that catalyze the deamination of …

Background Postoperative cognitive dysfunction (POCD) is characterized by impaired
learning and memory. 6 h duration isoflurane anesthesia is an important factor to induce …

Genetic mutations are the major pathogenic factor of Autism Spectrum Disorder (ASD). In
recent years, more and more ASD risk genes have been revealed, among which there are a …

We performed a comprehensive study of the morphological, functional, and genetic features
of moonwalker (MWK) mice, a mouse model of spinocerebellar ataxia caused by a gain of …