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Friedreich's ataxia in patients with FXN p.R165P point mutation

Introduction: Friedreich's ataxia (FRDA) is a hereditary disorder with progressive postural ataxia, dysarthria, neuropathy, muscle weakness and cardiomyopathy. Lack or malfunction of the protein frataxin due to mutations in the frataxin gene (FXN) is the cause of the disease. Most patients are homozygous for GAA trinucleotide expansions in FXN but disease can also be caused by heterozygosity for t

Annealing of Au, Ag and Au-Ag alloy nanoparticle arrays on GaAs (100) and (111)B

Metal nanoparticles (NPs), in particular gold NPs, are often used in the fabrication process of semiconductor nanowires. Besides being able to induce the 1D crystallization of new material, it is highly beneficial if the NPs can be used to dictate the position and diameter of the final nanowire structure. To achieve well-defined NP arrays of varying diameter and pitch distances for nanowire growth

Complement C3 Associates With Incidence of Diabetes, but No Evidence of a Causal Relationship

Purpose: This study explored whether complement factor 3 (C3) in plasma is associated with incidence of diabetes in a population-based cohort. We also identified genetic variants related to C3 and explored whether C3 and diabetes share common genetic determinants.Methods: C3 was analyzed in plasma from 4368 nondiabetic subjects, 46 to 68 years old, from the Malmö Diet and Cancer Study. Incidence o

Näten på Limhamn : Sociala relationer i ett lokalsamhälle 1870-1914

Popular Abstract in SwedishDenna studie utgår från tanken att ett samhälle kan ses som en grupp individer förenade i ett nätverk av sociala relationer. Nyckeln till förståelsen av samhället ligger därför i studiet av dessa sociala nätverk som den praktik (mikronivå) vari de sociala strukturerna (makronivån) reproduceras och förändras.Syftet med studien är att utifrån de sociala nätverken studera hThe aim of the study is to examine, using the social networks as a starting-point, the way a local community is constructed in a specific historical context, namely the industrial community of Limhamn in southern Sweden at the time of the Industrial Revolution 1870-1914. In 1870 the Skånska Cement Company initiated a large-scale extraction of limestone in the area and soon had cement works built i