Cellular stress induced by the abnormal accumulation of unfolded or misfolded proteins at
the endoplasmic reticulum (ER) is emerging as a possible driver of human diseases …

All cells sense and integrate mechanical and biochemical cues from their environment to
orchestrate organismal development and maintain tissue homeostasis …

Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders
for which the cause is often unknown. Here we report a screen for de novo mutations in …

В руководстве представлены результаты 60-летней работы автора в области детской
и взрослой неврологии и эпилептологии. Впервые эпилептология представлена в …

Alternative splicing is prevalent in the mammalian brain. To interrogate the functional role of
alternative splicing in neural development, we analyzed purified neural progenitor cells …

Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …

The mechanically activated non-selective cation channel Piezo1 is a determinant of vascular
architecture during early development. Piezo1-deficient embryos die at midgestation with …

Doublecortin (DCX) is required for normal migration of neurons into the cerebral cortex,
since mutations in the human gene cause a disruption of cortical neuronal migration. To …

One of the most prominent features of the human brain is the fabulous size of the cerebral
cortex and its intricate folding. Cortical folding takes place during embryonic development …

Autism is characterized by a broad spectrum of clinical manifestations including qualitative
impairments in social interactions and communication, and repetitive and stereotyped …