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Transitional Life Events in Friedreich Ataxia: Differential Age at Onset PerspectivesNARA Subscribed
Friedreich’s ataxia (FA) is a rare, autosomal recessive neurodegenerative disease that primarily affects children and adolescents in their transition to adulthood, which is associated with several adverse life events caused by the disease progression. This article aims to describe life events associated with FA and their impact on patient-reported outcomes in pediatric and adult onsets. A newly adapted Life Events Questionnair...
Beyond Genetic Indicators: How Reproductive Mode and Hybridisation Challenge Freshwater Mussel ConservationNARA Subscribed
Genetic diversity is a fundamental aspect of biodiversity, yet it is rarely assessed and monitored in conservation practice. Unionid freshwater mussels exemplify the dramatic loss of biodiversity in freshwater ecosystems, yet genomic data for these ecologically important species remain scarce. Here, we conducted a high‐resolution population genomics study of all Anodonta species in Switzerland, with a focus on two species with...
Morphodynamics and heavy metal accumulation in an artificially built near-natural river (Inde, Germany)NARA Subscribed
Heavy metals in riverine sediments threaten fluvial ecosystems worldwide. Sediment cascades transporting the compounds downstream lead to pollution stress downstream from the original input source. In regulated rivers, artificially built reaches with re-activated morphodynamics and morphological structures may become typical sink areas for contaminants. Therefore, a thorough understanding of transport mechanisms and accumulati...
Factors Influencing Health-Related Quality of Life of Patients with Spinocerebellar AtaxiaNARA Subscribed
Background Little is known about the progression of health-related quality of life (HRQoL) and predicting factors in spinocerebellar ataxia (SCA). Such knowledge is crucial to identify modifiable factors promoting everyday life with SCA and attenuating HRQoL decline. Objectives This study is to assess HRQoL progression and identify factors affecting SCA patients’ HRQoL. Methods Longitudinal data (three-year follow-up) of 310 S...
Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: a Validation Study of the EQ-5D-3LNARA Subscribed
Although health-related quality of life (HRQoL) has developed into a crucial outcome parameter in clinical research, evidence of the EQ-5D-3L validation performance is lacking in patients with spinocerebellar ataxia (SCA) types 1, 2, 3, and 6. The objective of this study is to assess the acceptability, validity, reliability, and responsiveness of the EQ-5D-3L. For n = 842 predominantly European SCA patients of two longitudinal...
Hybrid conferences are in-person events that have an online component. This type of meeting format was rare before the COVID-19 pandemic, but started to become more common recently given the asynchronous global progression of the pandemic, the uneven access to vaccines and different travel regulations among countries that led to a large proportion of participants being unable to attend conferences in person. Here we report the...
TRY plant trait database – enhanced coverage and open accessNARA Subscribed
Plant traits—the morphological, anatomical, physiological, biochemical and phenological characteristics of plants—determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodivers...
Summary The release of abiotic methane from marine seeps into the atmosphere is a major source of this potent greenhouse gas. Methanotrophic microorganisms in methane seeps use methane as carbon and energy source, thus significantly mitigating global methane emissions. Here, we investigated microbial methane oxidation at the sediment–water interface of a shallow marine methane seep. Metagenomics and metaproteomics, combined wi...
Genetic diversity is crucial for species’ maintenance and persistence, yet is often overlooked in conservation studies. Species diversity is more often reported due to practical constraints, but it is unknown if these measures of diversity are correlated. In marine invertebrates, adults are often sessile or sedentary and populations exchange genes via dispersal of gametes and larvae. Species with a larval period are expected t...
Urban/rural atmospheric water vapour pressure differences and urban moisture excess in Krefeld, GermanyNARA Subscribed
Urban/rural humidity differences were analysed by means of a climate station pair in Krefeld (51° 20′N, 6° 33′E), Germany, during the period from 11/2001 to 10/2002, on the basis of hourly averages of water vapour pressure. Focus was put upon on the examination of frequency, timing and duration of the Urban Moisture Excess (UME) (Δ e u−r > 0 hPa). It was found that the urban site was more humid (0 hPa e u−r ⩽0.5 hPa; weak UME)...
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