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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...
Host plant‐mediation of viral transmission and its consequences for a native butterflyNARA Subscribed
Pathogens play a key role in insect population dynamics, contributing to short‐term fluctuations in abundance as well as long‐term demographic trends. Two key factors that influence the effects of entomopathogens on herbivorous insect populations are modes of pathogen transmission and larval host plants. In this study, we examined tritrophic interactions between a sequestering specialist lepidopteran, Euphydryas phaeton , and...
Multiple system atrophy (MSA) is a fatal neurodegenerative disease of unknown etiology characterized by widespread aggregation of the protein alpha-synuclein in neurons and glia. Its orphan status, biological relationship to Parkinson’s disease (PD), and rapid progression have sparked interest in drug development. One significant obstacle to therapeutics is disease heterogeneity. Here, we share our process of developing a clin...
Data capturing multiple axes of tree size and shape, such as a tree's stem diameter, height and crown size, underpin a wide range of ecological research—from developing and testing theory on forest structure and dynamics, to estimating forest carbon stocks and their uncertainties, and integrating remote sensing imagery into forest monitoring programmes. However, these data can be surprisingly hard to come by, particularly for...
Comparative Studies of Cerebral Reperfusion Injury in the Posterior and Anterior Circulations After Mechanical ThrombectomyNARA Subscribed
Cerebral reperfusion injury is the major complication of mechanical thrombectomy (MT) for acute ischemic stroke (AIS). Contrast extravasation (CE) and intracranial hemorrhage (ICH) are the key radiographical features of cerebral reperfusion injury. The aim of this study was to investigate CE and ICH after MT in the anterior and posterior circulation, and their effect on functional outcome. This is a retrospective study of all...
Small global positioning system (GPS) trackers are now routinely used to study the movement and behaviour of birds at sea. If the birds rest on the water they become “drifters of opportunity” and can be used to give information about surface currents. In this paper, we use a small data set from satellite-tracked razorbills (Alca torda) in the Irish Sea to test the potential of this idea for measuring tidal currents. Razorbills...
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