Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease caused by mutations in the SACS gene. The first two mutations were identified in French Canadian populations 20 years ago. The disease is now known as one of the most frequent recessive ataxias worldwide.
View Article and Find Full Text PDFChild Adolesc Psychiatry Ment Health
December 2024
Background: Numerous studies have investigated the relevance of callous-unemotional traits in relation to externalizing psychopathology among children and adolescents. However, less research has examined the connections between callous-unemotional traits and internalizing psychopathology and findings were inconsistent. Consequently, the present study aimed to elucidate the role of callous-unemotional traits in the context of depression and anxiety while controlling for conduct problems, age, and gender.
View Article and Find Full Text PDFComput Struct Biotechnol J
December 2024
The expansion of multi-omics datasets raises significant challenges for data integration and querying. To overcome these challenges, we developed a generic RDF-based integration schema that connects various types of differential -omics data, epigenomics, and regulatory information. This schema employs the FALDO ontology to enable querying based on genomic locations.
View Article and Find Full Text PDFChild Adolesc Psychiatry Ment Health
November 2024