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Frontotemporal dementia (FTD) and Alzheimer's disease (AD) are two frequent causes of dementia that share both clinical and neuropathological features. Common to both disorders are the neurofibrillary tangles consisting of aggregations of hyperphosphorylated tau protein. Recently, a number of different pathogenic mutations in the tau gene have been identified in families with FTD and parkinsonism
The Vel blood group antigen is expressed on the red blood cells of most individuals. Recently, we described that homozygosity for inactivating mutations in SMIM1 defines the rare Vel-negative phenotype. Still, Vel-positive individuals show great variability in Vel antigen expression, creating a risk for Vel blood typing errors and transfusion reactions. We fine-mapped the regulatory region located
Tumours displaying differentiation towards normal fat constitute the most common subgroup of soft tissue neoplasms. A series of such tumours was investigated by whole-exome sequencing followed by targeted ultra-deep sequencing. Eighty percent of angiolipomas, but not any other tumour type, displayed mutations in the protein kinase D2 (PRKD2) gene, typically in the part encoding the catalytic domai
In a prospective population-based study, all open hand, wrist, and forearm injuries that were treated during a 10-year period, at hospitals and emergency wards in three Norwegian cities with 225,000 inhabitants, were registered. Injury severity was graded using the abbreviated injury scale (AIS). For moderate injuries (AIS 2) overall incidence (95% CI) was 59 (56-62), incidence among males 92 (86-
Genetic factors influence susceptibility to multiple sclerosis but the responsible genes remain largely undefined, association with MHC class II alleles being the only established genetic feature of the disease. The Nordic countries have a high prevalence of multiple sclerosis, and to further explore the genetic background of the disease, we have carried out a genome-wide screen for linkage in 136
Purpose: The aim of this work is to examine the relationship between aspects of objective and perceived housing and aspects of healthy aging, defined as independence in daily activities and subjective wellbeing. Furthermore, this research examined the comparability of relationships between housing and healthy aging in the five European countries. Design and Methods: Data were drawn from the ENABLE
Microzarkodina is a genus of mainly Middle Ordovician conodonts that has its centre of distribution in Baltoscandia, and much less commonly occurs in southern China, Australia, Argentina and Laurentia. In Baltica a series of species, Microzarkodina russica n. sp., M. flabellum, M. parva, M. Bella, M. Hagetiana and M. ozarkodella, established themselves successfully. The succession of species range
A new method for optimising threshold values of dry/wet spells is evaluated. A set of indices is used to find the best threshold giving good correspondence between the frequency of dry/wet spells in Hadley Centre regional model (HadRM3) output, reference observations with predetermined thresholds, and area-averaged observations. The analyses focus on selected model gridboxes in 3 different Europea
Capabilities-based planning and capability assessment are high on the agendas of several countries and organisations as part of their risk management and emergency preparedness. Despite this, few definitions of capability exist, and they are not easily related to concepts such as risk, vulnerability and resilience. The aim of the present study was thus to broaden the scientific basis of the risk f
