Exome sequencing (ES) has become a primary tool for diagnosing neurodevelopmental disorders (NDDs), yet the interpretation of genetic variants in large, heterogeneous cohorts presents significant challenges that automated pipelines often fail to resolve. This study showcases the complexities and novel findings derived from a decade-long analysis of 419 Italian NDD patient-parent trios. While ES established a molecular diagnosi...

Citizen science is increasingly used to document biodiversity in urban ecosystems while simultaneously promoting public engagement with nature. However, how institutional coordination relates to participation levels and the resulting representation of urban biodiversity remains poorly understood, particularly in European cities. The City Nature Challenge is a global annual bioblitz that engages citizens in recording urban biod...

The Copper to Middle Bronze Ages are particularly significant times in Italian Protohistory, as they were marked by major dietary, social, and technological transformations. Stable isotope analysis has become a key tool in reconstructing past human diets. Although its application has expanded across the Italian Peninsula over the past decade, data for the Copper Age in northern Italy remain limited, and geographic coverage is...

Unsupervised serious video games on the SmartMe&You home telemonitoring platform may enable the assessment of cognitive fluctuations in older individuals, with or without cognitive deficits. Here, we tested their validity in cognitively unimpaired older adults (Healthy) and patients with mild cognitive impairment and mild to moderate dementia due to Parkinson’s disease (PDCD). Such validity was assessed using Mini-Mental State...

Sedentary behavior is a recognized and modifiable risk factor for cognitive decline and dementia across neurodegenerative conditions. This study used a smartwatch-based telemonitoring procedure combined with ecological cognitive assessment to examine whether step counts can capture sedentary behavior and its association with cognitive functioning in patients with mild cognitive impairment (ADMCI) and dementia (ADD) due to Alzh...

RAPGEF6 is a member of the guanine nucleotide exchange factor (GEF) subfamily that acts on Rap small GTPases and contains a Ras/Rap-associating domain. Although deficiency of this gene has previously been linked to schizophrenia, no MIM phenotype entry currently associates RAPGEF6 with a defined clinical condition. In this study, trio-based whole-exome sequencing (WES) was performed in an individual presenting with psychiatric...

Lewy body disease (LBD) and Alzheimer’s disease (AD) are the most common causes of cognitive decline and dementia and are associated with characteristic alterations in resting-state electroencephalographic (rsEEG) activity. This multicenter exploratory study investigated periodic and aperiodic rsEEG features in patients with cognitive decline due to Lewy body disease (LBCD) and Alzheimer’s disease (ADCD), compared with cogniti...

Muscle synergies provide a framework to study motor control in healthy and clinical populations through electromyographic recordings during motor tasks. However, their variability has been poorly investigated. This study aimed to assess inter-session variability of muscle synergies during elevation tasks performed with the dominant and non-dominant upper limbs in healthy subjects. Fifteen young healthy adults performed explosi...

Monitoring Essential Ocean, Climate, and Biodiversity Variables (EOVs, ECVs and EBVs) collected through the marine Research Infrastructures (RIs) is critical for assessing environmental status, improving scientific knowledge and defining environmental policies. This study evaluates the capacity of the Italian marine monitoring system, including facilities such as fixed stations, buoys, autonomous platforms, and mobile systems...

In response to the increasing frequency of extreme natural events, Terna (the Italian TSO) and Ricerca sul Sistema Energetico—RSE, an Italian research centre in the energy sector, developed a risk-based methodology for assessing power system resilience. This methodology evaluates the benefits of grid hardening measures and supports Cost–Benefit Analyses (CBA) for resilience plans, as required by the Italian regulatory authorit...

Soil health represents a key component of urban ecosystems and a priority for achieving the European Union’s climate neutrality and biodiversity restoration goals. Changes in edaphic diversity are the first indicators of soil health, but require long investigation times. Therefore, rapid, multi-level, and low-impact diagnostic tools are required. Behavioural bioassays, including avoidance and disaggregation tests, serve as rap...