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Relationship between frailty and disease progression in Parkinson’s disease: a 3-year longitudinal studyNARA Subscribed
Parkinson’s disease (PD) shows substantial variability in presentation and progression. Frailty, a multidimensional construct reflecting biological aging, is a determinant of clinical outcomes in several neurodegenerative disorders. While cross-sectional studies suggest that frailty modulates the clinical phenotype of PD, affecting motor and non-motor symptoms, its longitudinal prognostic relevance remains unclear. In this 3-y...
The orexinergic system is anatomically and functionally conserved in almost all vertebrates, and the role in healthy ageing and age-associated diseases has been studied in mammals. Here, we review the main findings on the age-related regulation of orexinergic system in mammals, including human patients and highlights how the fish Nothobranchius furzeri serves as an exceptional model to spearhead research and unravel the intric...
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challengeNARA Subscribed
Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous diseases, such as intellectual disability, autism spectrum disorders, and epilepsy. The intricate genetic underpinnings of NDDs pose a formidable challenge, given their multifaceted genetic architecture and heterogeneous clinical presentations. This work delves into the intricate interplay between genetic varian...
CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)NARA Subscribed
The Genetics of Neurodevelopmental Disorders Lab in Padua provided a new intellectual disability (ID) Panel challenge for computational methods to predict patient phenotypes and their causal variants in the context of the Critical Assessment of the Genome Interpretation, 6th edition (CAGI6). Eight research teams submitted a total of 30 models to predict phenotypes based on the sequences of 74 genes (VCF format) in 415 pediatri...
Avenues towards reconciling wild and managed bee proponentsNARA Subscribed
Background Insomnia persists as a prevalent sleep disorder among middle-aged and older adults, significantly impacting quality of life and increasing susceptibility to age-related diseases. It is classified into objective insomnia (O-IN) and paradoxical insomnia (P-IN), where subjective and objective sleep assessments diverge. Current treatment regimens for both patient groups yield unsatisfactory outcomes. Consequently, inves...