DROZD , Malgorzata

Developmental Brain Disorders (DBDs) encompass a highly heterogeneous group of disorders that manifest through cognitive, motor, neurobehavioral, neuroanatomical and neurophysiological aberrations originating from developmental brain dysfunction. DBDs include, among others, Intellectual Disability (ID), some forms of epilepsy, Autism Spectrum...

Fragile X-associated tremor ataxia syndrome (FXTAS) is a rare disorder associated to the presence of the fragile X premutation, a 55-200 CGG repeat expansion in the 5' UTR of the FMR1 gene. Two main neurological phenotypes have been described in carriers of the CGG premutation: (1) neurodevelopmental disorders characterized by anxiety,...

The fragile X mental retardation protein (FMRP) is an RNA-binding protein involved in translational regulation of mRNAs that play key roles in synaptic morphology and plasticity. The functional absence of FMRP causes the fragile X syndrome (FXS), the most common form of inherited intellectual disability and the most common monogenic cause of...