We sequenced the genomes of a ∼7,000-year-old farmer from Germany and eight ∼8,000-year-old
hunter-gatherers from Luxembourg and Sweden. We analysed these and other …

Background Sakha – an area connecting South and Northeast Siberia – is significant for
understanding the history of peopling of Northeast Eurasia and the Americas. Previous studies …

Multiple sclerosis (MS) is a serious, incurable neurological disease. In 2009, the ANZgene
studies detected the suggestive association of located upstream of CD40 gene in …

Background Hereditary Spastic Paraplegia (HSP) represents a large group of clinically and
genetically heterogeneous disorders linked to over 70 different loci and more than 60 …

Congenital autosomal recessive cataract with unknown genetic etiology is one of the most
common Mendelian diseases among the Turkic-speaking Yakut population (Eastern Siberia, …

Spinocerebellar ataxia type 1 (SCA1) is the major and likely the only type of autosomal
dominant cerebellar ataxia in the Sakha (Yakut) people of Eastern Siberia. The prevalence rate …

Viliuisk encephalomyelitis (VE) is a neurodegenerative disorder expressed as subacute
meningo-encephalitis progressing to a more prolonged pan-encephalitic syndrome with a fatal …

Axonal degeneration is responsible for the progression of the irreversible destruction caused
by multiple sclerosis (MS) resulting ultimately in permanent disability. The KIF1B protein, a …

Background Prenatal diagnosis of congenital and hereditary diseases is a priority for the
development of medical technologies in Russia. However, there are not many published …

Viliuisk encephalomyelitis is an acute, often fatal, meningoencephalitis that tends to develop
into a prolonged chronically progressive panencephalitis. Clinical, neuropathologic, and …