Two novel variants in GRN: the relevance of CNV analysis and genetic screening in FTLD patients with a negative family history.

Background: Frontotemporal lobar degeneration (FTLD) is one of the leading causes of early onset dementia. Pathogenic variants in GRN have been reported to cause 5-25% of familial and 5% of sporadic FTLD. Here, we present two novel, likely pathogenic variants in GRN.

Archaeometallurgical investigation of the Nebra Sky Disc.

The world heritage object Nebra Sky Disc is one of the best investigated archaeological objects. The origin of the raw materials it is made of is well known. However, its manufacturing process was not completely clear.

Neural correlates of sensorimotor adaptation: Thalamic contributions to learning from sensory prediction error.

Understanding the neural mechanism of sensorimotor adaptation is essential to reveal how the brain learns from errors, a process driven by sensory prediction errors. While the previous literature has focused on cortical and cerebellar changes, the involvement of the thalamus has received less attention. This functional magnetic resonance imaging study aims to explore the neural substrates of learning from sensory prediction errors with an additional focus on the thalamus.

Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework.

Lysosomal diseases (LDs) are a heterogeneous group of rare genetic disorders that result in impaired lysosomal function, leading to progressive multiorgan system dysfunction. Accurate diagnosis is paramount to initiating targeted therapies early in the disease process in addition to providing prognostic information and appropriate support for families. In recent years, genomic sequencing technologies have become the first-line approach in the diagnosis of LDs.