Neurodegeneration is one the most important pathological factors which contributes to
permanent disability in multiple sclerosis (MS). Optical coherence tomography (OCT) …

Background Diagnostic trajectories for neurogenetic disorders frequently require the use of
considerable time and resources, exposing patients and families to so-called “diagnostic …

Introduction Clinical genomics promise to be especially suitable for the study of etiologically
heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three …

… 4, C y D). We reported this novel somatic variant in ClinVar (ClinVar submission
accession number: SCV000778838.1). We assessed mTORC1 activity by visualizing the …

The genetic and phenotypic heterogeneity of neurogenetic diseases forces patients and their
families into a “diagnostic odyssey.” An increase in the variability of genetic disorders and …

Neuronal migration disorders are a clinically and genetically heterogeneous group of
malformations of cortical development, frequently responsible for severe disability. Despite the …

Background The aim of this study was to assess the diagnostic accuracy (sensitivity and
specificity) of clinical, imaging and motor evoked potentials (MEP) for predicting the short-term …

Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically
characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused …

Intellectual disability (ID) is a common neurodevelopmental disorder that involves impairments
of general mental abilities that impact adaptive functioning (1). Noteworthy advances in …

We performed a molecular epidemiology study in a population of 105 mesial temporal lobe
epilepsy with hippocampal sclerosis (MTE-HS) patients in order to investigate the role of a …