Genes encoding the DNA helicase TWINKLE (C10orf2) or the two subunits of mtDNA polymerase γ (POLγ) (POLG1 and POLG2) have a direct effect on the mitochondrial DNA replication machinery and were reported in many mitochondrial disorders. Friedreich's ataxia (FRDA) is the common cause of ataxia often associated with the expansion of a GAA repeat in intron 1 of the frataxin gene (FXN). Mitochondrial D

This article reflects results from the technology screening and analyses of passive and active measures applied to large scale residential building refurbishments, focusing on the facade. This work is part of the research study ‘multi-active façade' that focuses on the development of an innovative facade concept suitable for the refurbishment challenges that the ambitious Swedish housing programme

Background: The landlocked mountain country of Nepal has an extreme topography and is one of the poorest and least developed countries in the world. Nepal has ratified and signed the Convention on the Rights of Persons with Disabilities (CRPD). To understand what is required to improve prosthetic provision and services for persons living with an amputation in low-income countries, it is of interes

Kearns-Sayre syndrome is a mitochondrial disorder characterized by the emergence before the age of 20 years of progressive external ophthalmoplegia, pigmentary retinopathy, with other heterogeneous clinical manifestations. Generally, mitochondrial DNA deletions were associated with KSS but the size and position of these deletions differ among patients. This study reported a Tunisian patient with t

Rural law courts are sometimes believed to have contributed to juridical fragmentation, which led to coordination failures and, hence, to high transaction costs. We present a case study of the village law court of Mijnsheerenland, and pay particular attention to the question of whether non-residents expected villagers to have a 'home court' advantage. Our analysis of default risk premiums demanded

Editing Emily Dickinson considers the processes through which Dickinson's work has been edited in the twentieth century and how such editorial processes contribute specifically to the production of Emily Dickinson as author. The posthumous editing of her handwritten manuscripts into the conventions of the book and the electronic archive has been informed by editors' assumptions about the literary

Germline mutations in the p53 tumor suppressor gene are associated with the Li-Fraumeni syndrome, characterized by childhood sarcoma, leukemia and early onset breast cancer and has occasionally been found also in familial breast-ovarian cancer. Most mutations found are of missense type and located in the central region of the gene (exons 5 to 8). In the present study, a germline p53 alteration was

The article examines the extent of and factors behind Civil Society Organizations’ (CSOs’) use of social media to influence politics compared with nondigital political strategies, that is, using the traditional media and demonstrations. Taking stock of previous research on information and communication technologies, social media, and political influence, the relevance of four sets of factors is te

The Swedish legal scholar Tore Strömberg (1912-1993) is often characterized as the last true representative of the Uppsala school of legal thinking.

Roma and Travellers (”resande”) have been present in Sweden for centuries. In the 19th and early 20th centuries, rural municipalities (kommuner) often adopted policies aimed to expel them from or to prevent them from entering the municipality. This is well established by previous research. What is less known is that another kind of territorial exclusion existed as well: that of collective violence

We extend the method of rescaled Ward identities of Ameur, Kang, and Makarov to study the distribution of eigenvalues close to a bulk singularity, i.e., a point in the interior of the droplet where the density of the classical equilibrium measure vanishes. We prove results to the effect that a certain “dominant part” of the Taylor expansion determines the microscopic properties near a bulk2 singul

The Biopython Project is a long-running distributed collaborative effort, supported by the Open Bioinformatics Foundation, which develops a freely available Python library for biological computation.We present here details of the latest Biopython release - version 1.66. New features include: extended Bio.KEGG and Bio.Graphics modules to support drawing KEGG pathways with transparency; extended “ab

We report on In0.85Ga0.15As nanowire MOSFETs (NWFETs) with record performance in several key VLSI metrics. These devices exhibit ION = 555 μA/μm (at IOFF = 100 nA/μm and VDD = 0.5 V), ION = 365 μA/μm (at IOFF = 10 nA/μm and VDD = 0.5 V) and a quality factor Q = gm/SS of 40, all of which are the highest reported for a III-V as well as silicon transistor. Furthermore, a highly scalable, self-Aligned

Summary: This study used nationwide hip fracture data from Denmark and Sweden during 1987–2010 to examine effects of (birth) cohort and period. We found that time trends, cohort, and period effects were different in the two countries. Results also indicated that hip fracture rates may increase in the not so far future. Introduction: The reasons for the downturn in hip fracture rates remain largely

Various neuropsychiatric disorders are a common feature today, not leastin educational contexts where Attention Deficit Hyper Activity Disorder(ADHD) is a common diagnosis. The dominant perspective regardingADHD is biomedical. This perspective has been questioned andchallenged in various ways. The aim of this article is to think ADHDthrough quantum physicist and philosopher Karen Barad’s [Barad, KVarious neuropsychiatric disorders are a common feature today, not leastin educational contexts where Attention Deficit Hyper Activity Disorder(ADHD) is a common diagnosis. The dominant perspective regardingADHD is biomedical. This perspective has been questioned andchallenged in various ways. The aim of this article is to think ADHDthrough quantum physicist and philosopher Karen Barad’s [Barad, K