Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare autosomal recessive disease associated with mutations of ASAH1 gene, which encodes N-acylsphingosine amidohydrolase 1 [1]. It is characterized by progressive proximal muscle weakness due to anterior horn cell degeneration, followed by myoclonic seizures and cognitive decline [1]. Age of onset can range from childhoo...

OBJECTIVE Phthalates, which are commonly used to render plastics into soft and flexible materials, have also been determined as developmental and reproductive toxicants in human and animals. The purpose of this study was to evaluate the effect of mono-(2- ethylhexyl) phthalate (MEHP) and di-(2-ethylhexyl) phthalate (DEHP) oral administrations on maturation of mouse oocytes, apoptosis and gene t...

The development of an intracranial aneurysm (IA) is a multifactorial process, involving genetic and environmental factors. The presence of IA or aneurysmal subarachnoid hemorrhage (aSAH) in twins is particularly interesting, since both genetic and environmental factors can be studied. It also raises the question of whether, when one twin is affected, the other asymptomatic twin should be examin...

Despite a substantial research literature on the influence of dimensions and exercises in assessment centers (ACs), the relative impact of these two sources of variance continues to raise uncertainties because of confounding. With confounded effects, it is not possible to establish the degree to which any one effect, including those related to exercises and dimensions, influences AC ratings. In...

Sphingolipids are an important group of biomolecules that play important roles in the regulation of many cell functions. Many efforts have been made in recent years to design analogs suitable for a better understanding of the biological and biophysical roles of sphingolipids. In this review, some of the most relevant contributions in the field from our group are collected. In particular, this r...