Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain-hindbrain malformation known as the 'molar tooth sign'. To date, 19 causative genes have been identified, all coding for proteins of the primary cilium. There is clinical and genetic overlap with other ciliopathies, in particular with Meckel syndrome (MKS), that is al

The best validated susceptibility variants for Parkinson's disease are located in the α-synuclein (SNCA) and microtubule-associated protein tau (MAPT) genes. Recently, a protective p.N551K-R1398H-K1423K haplotype in the leucine-rich repeat kinase 2 (LRRK2) gene was identified, with p.R1398H appearing to be the most likely functional variant. To date, the consistency of the protective effect of LRR

Recent studies of THAP1 (DYT6) have pointed out that late-onset focal dystonia can have a genetic basis. Familial late-onset primary dystonia has not been described in African- Americans. Six members of an African American family were affected by focal or segmental dystonia with a mean age at onset of 47 years (range, 45-50). Two additional individuals with milder clinical signs were classified as

In this study, low quality waste cooking oil with high total acid value, has been used for biodiesel production. The main factors affecting the reaction has been analysed using Response Surface Methodology (RSM). A quadratic model representing the interrelationships between reaction variables and free fatty acids (FFA) conversion has been developed. Analysis of variance (ANOVA) has been used for c

In recent years, much attention has been focused on the hydrogenolysis of biodiesel derived glycerol to other high value products for the sustainable development and efficient valorization strategies. In the present work, alumina-supported Ir catalyst was prepared by the incipient wetness impregnation method and tested in the glycerol hydrogenolysis reaction. The synthesized catalyst was character

collected poems

This study aims to examine the effectiveness of the narrative tools in the modern Arabic poetry and take Al-baradony poetry as a model because it is a fertile field for academic studies and is as diverse as the curriculum to be studied by way of applications It has been studied in some respects and is still under taken for reasons. This study tries to examine the phenomenon of narrative style Al-b

This article addresses the big problems that Socotra island was facing in 2015; hurricanes, and the influence of war in Yemen.

Biological membranes do not only occur as planar bilayer structures, but depending on the lipid composition, can also curve into intriguing threedimensional structures. In order to fully understand the biological implications as well as to reveal the full potential for applications, e.g. for drug delivery and other biomedical devices, of such structures, well-defined model systems are required. He

The solid oxide fuel cell (SOFC) is an electrochemical device that converts the chemical energy present in reactant fuels into electrical energy and heat. Such conversion is given by the electrochemical reactions that occur inside the fuel cells when the reactant gases reach the so-called Three-phase Boundary (TPB). However, before the reactant gases can reach the TPBs, they have to pass through a

A numerical and experimental study on the conversion of a biomass particle is carried out to quantify the effect of homogeneous volatile combustion on the biomass pyrolysis. The numerical domain consists of a particle and its surrounding and the model considers detailed chemical kinetic mechanism for reaction of pyrolysis products. A detailed pyrolysis model is employed which provides the composit

We address a new agricultural policy concern following the decoupling of CAP direct payments in 2005: passive farming, whereby landowners maintain their agricultural area to collect payments without producing commodities. It is claimed that passive farming is hindering agricultural development by 'blocking' access to farmland for expanding farmers. We evaluate the links between the EU's Single Pay

Optical mapping (OM) has been used in microbiology for the past 20 years, initially as a technique to facilitate DNA sequence-based studies; however, with decreases in DNA sequencing costs and increases in sequence output from automated sequencing platforms, OM has grown into an important auxiliary tool for genome assembly and comparison. Currently, there are a number of new and exciting applicati

Genetic polymorphisms are powerful model systems to study the maintenance of diversity in nature. In some systems, polymorphisms are limited to female coloration; these are thought to have arisen as a consequence of reducing male mating harassment, commonly resulting in negative frequency-dependent selection on female color morphs. One example is the damselfly Ischnura elegans, which shows three f

Pump-probe experiments are commonly used at Free Electron Lasers (FEL) to elucidate the femtosecond dynamics of atoms, molecules, clusters, liquids and solids. Maximizing the signal-to-noise ratio of the measurements is often a primary need of the experiment, and the aggregation of repeated, rapid, scans of the pump-probe delay is preferable to a single long-lasting scan. The limited availability

Anthropogenic emissions and land use changes have modified atmospheric aerosol concentrations and size distributions over time. Understanding preindustrial conditions and changes in organic aerosol due to anthropogenic activities is important because these features (1) influence estimates of aerosol radiative forcing and (2) can confound estimates of the historical response of climate to increases