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MT-ATP6 9035T>C Variant Causes Ataxia With Azoospermia and Apparent Anticipation in a Four-generation KindredNARA Subscribed
Background The hereditary cerebellar ataxias are a clinically and genetically heterogeneous group of disorders characterized by progressive cerebellar degeneration leading to incoordination of gait, speech, limb, and eye movements. Hundreds of genes encoding diverse proteins underlie this family of degenerative disorders that may exhibit autosomal dominant, recessive, mitochondrial, or X-linked inheritance. Variations in clini...
Interpretable deep learning reveals spatiotemporal MRI features of brain aging that align with neurodegenerationNARA Subscribed
Cortical thinning and atrophy are hallmarks of brain aging that have been characterized using magnetic resonance imaging (MRI). Brain aging involves many neuroanatomic features whose effects on brain structure remain unexplored. To address this challenge, we trained interpretable deep neural networks (DNNs) to estimate brain age (BA) from T 1 -weighted ( T 1 w) MRI. By identifying MRI features unapparent to humans, DNNs can fi...
Accurate prediction of community assembly is a central goal in ecology but is challenging because assembly is governed by numerous mechanisms. Few theoretical models explicitly incorporate or test multiple mechanisms at once. We empirically tested the predictive performance of a plant community assembly model built using all possible combinations of four ‘mechanisms’ (soil resource competition, dispersal and colonisation, spat...
Success of restoration strategies in preventing extirpation of 2 critically endangered coral speciesNARA Subscribed
An unprecedented marine heatwave in 2023 caused widespread coral bleaching and mortality throughout the Caribbean. In the Florida Keys (USA), 2 foundation species, elkhorn coral ( Acropora palmata ) and staghorn coral ( Acropora cervicornis ), were severely affected. These species have been the primary focus of reef restoration in Florida for decades. Substantial losses of these species occurred in outplanted populations, in o...
Diagnosing scaling bottlenecks in 10 community conservation initiatives in southern and eastern AfricaNARA Subscribed
Scaling area‐based conservation, including initiatives led or comanaged by Indigenous Peoples and local communities, is a flagship goal of the Kunming‐Montreal Global Biodiversity Framework. Conservationists often aspire to scale initiatives, but this is rarely achieved in practice. Identifying and addressing factors that limit initiative adoption (i.e., bottlenecks) could improve scaling strategies. We used insightsfrom 84 ex...
Alzheimer’s disease (AD) disproportionately affects women and carriers of the apolipoprotein E ε4 allele (APOE4), yet little is known about how sex and APOE interact to influence white matter (WM) integrity during disease progression. We integrated diffusion MRI and matched blood transcriptomic data to investigate these interactions and their underlying biological mechanisms. WM microstructure was quantified using diffusion te...
Divergent demographic responses of boreal-breeding ducks to growing season variabilityNARA Subscribed
In seasonal environments climatic variability shapes the timing, duration, and magnitude of primary production with effects that may percolate upward through food chains. While the role of spring phenology and implications of trophic mismatches have been documented in some bird species, including waterfowl, there is little research on the role of growing season duration or overall productivity. Duck species breeding in the wes...
Assessing the intensity of Late Quaternary humid phases in the Nefud Desert, northern ArabiaNARA Subscribed
The climate history of the major dryland zones of the world, such as the Saharo–Arabian Desert belt, plays a key role in the dispersal of early humans through these intermittently inhospitable regions. Here, we assess the relative intensity of Late Quaternary humid phases in northern Arabia through lithological, geochemical, palaeoecological and geochronological analysis of three sediment sequences in the Nefud Desert. Two seq...
Marine megafauna species are affected by a wide range of anthropogenic threats. To evaluate the risk of such threats, species’ vulnerability to each threat must first be determined. We build on the existing threats classification scheme and ranking system of the International Union for Conservation of Nature (IUCN) Red List of Threatened Species by assessing the vulnerability of 256 marine megafauna species to 23 at‐sea threat...
The feasibility of using unoccupied aerial vehicles (UAVs, ‘drones’) to collect high-resolution still and video imagery of dugongs ( Dugong dugon ) for photo-identification (photo-ID) in the Sindalah Archipelago, NEOM (area ~ 84 km 2 ), within the northeast Red Sea, Saudi Arabia, was evaluated during opportunistic marine megafauna searches. Drone searches were conducted whenever possible over one year (January 2024 to January...