| 1. |
- Itzhaki, Ruth F., et al.
(författare)
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Microbes and Alzheimer's disease
- 2017
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Ingår i: Handbook of infection and Alzheimer's disease. - : IOS Press. - 9781614997054 - 9781614997061 ; , s. 3-8
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Bokkapitel (refereegranskat)
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| 2. |
- Ng, Bobby G., et al.
(författare)
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DPAGT1 deficiency with encephalopathy (DPAGT1-CDG) : Clinical and genetic description of 11 new patients
- 2018
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Ingår i: JIMD Reports. - Berlin, Heidelberg : Springer Berlin Heidelberg. - 2192-8304 .- 2192-8312. ; 44, s. 85-92
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Bokkapitel (refereegranskat)abstract
- Pathogenic mutations in DPAGT1 cause a rare type of a congenital disorder of glycosylation termed DPAGT1-CDG or, alternatively, a milder version with only myasthenia known as DPAGT1-CMS. Fourteen disease-causing mutations in 28 patients from 10 families have previously been reported to cause the systemic form, DPAGT1-CDG. We here report on another 11 patients from 8 families and add 10 new mutations. Most patients have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. We also present data on three affected females that are young adults and have a somewhat milder, stable disease. Our findings expand both the molecular and clinical knowledge of previously published data but also widen the phenotypic spectrum of DPAGT1-CDG.
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| 3. |
- O'Gorman, Eoin J., et al.
(författare)
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Impacts of Warming on the Structure and Functioning of Aquatic Communities : Individual-to Ecosystem-Level Responses
- 2012
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Ingår i: Advances in Ecological Research, Vol 47. - : Elsevier. - 9780123983152 ; , s. 81-176
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Bokkapitel (refereegranskat)abstract
- Environmental warming is predicted to rise dramatically over the next century, yet few studies have investigated its effects in natural, multi-species systems. We present data collated over an 8-year period from a catchment of geothermally heated streams in Iceland, which acts as a natural experiment on the effects of warming across different organisational levels and spatiotemporal scales. Body sizes and population biomasses of individual species responded strongly to temperature, with some providing evidence to support temperature size rules. Macroinvertebrate and meiofaunal community composition also changed dramatically across the thermal gradient. Interactions within the warm streams in particular were characterised by food chains linking algae to snails to the apex predator, brown trout These chains were missing from the colder systems, where snails were replaced by much smaller herbivores and invertebrate omnivores were the top predators. Trout were also subsidised by terrestrial invertebrate prey, which could have an effect analogous to apparent competition within the aquatic prey assemblage. Top-down effects by snails on diatoms were stronger in the warmer streams, which could account for a shallowing of mass-abundance slopes across the community. This may indicate reduced energy transfer efficiency from resources to consumers in the warmer systems and/or a change in predator-prey mass ratios. All the ecosystem process rates investigated increased with temperature, but with differing thermal sensitivities, with important implications for overall ecosystem functioning (e.g. creating potential imbalances in elemental fluxes). Ecosystem respiration rose rapidly with temperature, leading to increased heterotrophy. There were also indications that food web stability may be lower in the warmer streams.
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| 4. |
- Hudson, J. A., et al.
(författare)
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Coupled THMC modeling for safety assessment of geological disposal of radioactive wastes : The DECOVALEX project (1992-2015)
- 2017
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Ingår i: Rock Mechanics and Engineering Volume 3: Analysis, Modeling and Design. - : CRC Press. - 9781317481942 - 9781138027619 ; , s. 3-44
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- This Chapter describes a long-term research effort (1992 to the present) on coupled THMC processes in geological systems in the context of the safe geological disposal of radioactive wastes: the DECOVALEX project (DEvelopment of COupled models and their VAlidation through EXperiments). This project is a unique international co-operative research project which was initiated in 1991, officially started in 1992, has continued through a number of phases without interruption since then and is still continuing in the time of preparing this chapter by the authors. The overall objective of this research has been the development, validation and application of numerical modeling methods and techniques for the performance and safety assessments of geological disposal of radioactive waste (GDRW) in underground repositories. The cooperation has been financed by national waste management organizations, regulatory bodies and national research institutes and individual universities in Canada, China, Czech Republic, European Commission, Finland, France, Germany, Republic of Korea, Spain, Japan, Sweden, UK and USA.Over the period of 23 years, the project has made impressive advanced researches in the field of coupled THMC (Thermo- Hydro-Mechanical-Chemical) processes in geological systems, especially in fractured crystalline and sedimentary rocks and buffer/backfill materials, through integrated numerical modeling and laboratory and field experiments. The experiments cover scales ranging from laboratory-sized samples to in situ experiments in underground research laboratories (URLs) in different host rocks in different countries. The work has resulted in an impressive number ofmajor developments, as reported in scientific publications and helped to educate and train younger generations of researchers in this field. This Chapter presents the goals, structure, contents and approaches of the project, as well as achievements and lessons learned during this long-term project, at both the fundamental and application levels.
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| 5. |
- Johansson, Roger, et al.
(författare)
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Using Eye Movements and Spoken Discourse as Windows to Inner Space
- 2013
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Ingår i: The Construal of Spatial Meaning : Windows into Conceptual Space - Windows into Conceptual Space. - : Oxford University Press. - 9780199641635 - 9780191760020 ; , s. 9-28
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Bokkapitel (refereegranskat)abstract
- The purpose of this paper is to show how eye-tracking methodology can be used to study ‘inner space’; both from a theoretical point of view – the existence (or not) of internal image representations – as well as from an applied point of view – the usage of mental imagery in thinking and reasoning. First, we introduce the reader to the mental imagery debate. Second, we summarize studies on mental imagery in different areas of research. Third, we focus on our studies, described in Johansson, Holsanova and Holmqvist (2005, 2006), where we developed a method to study ‘inner space’, and showed that eye movements do to a high degree reflect spatiality during visualizations of both pictures and spoken scene descriptions. Fourth, we discuss theoretical implications, advantages and limitations of this methodology and relate them to current theories of mental imagery, perception and mental simulation. Fifth, we mention relevant application areas and show how our method can be used in thinking and reasoning.
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