Alzheimer’s disease (AD) age of onset (ADAOO) varies greatly between individuals, with
unique causal mutations suggesting the role of modifying genetic and environmental …

Aim Difficulties in neurocognition and social interaction are the most prominent causes of
morbidity and long‐term disability in children with neurofibromatosis type 1 (NF1). Symptoms of …

Background: Holoprosencephaly (HPE) is the most common structural malformation of the
human forebrain. There are several important HPE mutational target genes, including the …

Attention-Deficit/Hyperactivity Disorder (ADHD) has a very high heritability (0.8), suggesting
that about 80% of phenotypic variance is due to genetic factors. We used the integration of …

Here we summarize evidence obtained by our group during the last two decades, and
contrasted it with a review of related data from the available literature to show that behavioral …

Presenilin-1 (PSEN1) mutations cause familial Alzheimer’s disease (FAD) characterized by
early age of onset (AoO). Examination of a large kindred harboring the PSEN1-E280A …

Hydrological distributed models demand large amounts of data, information and parameters
in order to accurately represent the spatial variability of the main hydrological processes …

Major depressive disorder (MDD) affects around 350 million people worldwide; however, the
underlying genetic basis remains largely unknown. In this study, we took into account that …

Niemann–Pick disease, type C is a neurodegenerative, lysosomal storage disorder with a
broad clinical spectrum and a variable age of onset. The absence of a universally accepted …

The cyclopic and laterality phenotypes in model organisms linked to disturbances in the
generation or propagation of Nodal-like signals are potential examples of similar impairments …