Sentences with phrase «developmental brain disorders»

A new method could push research into developmental brain disorders an important step forward.

These data place SLC9A6 among the top six genes with recurrent protein - truncating mutations, and suggest that CS may constitute approximately 1 % to 2 % of X-linked developmental brain disorders.

He also studies how dysregulated translational control contributes to altered synaptic function and aberrant behaviors in developmental brain disorders and neurodegenerative disease.

Saturday, Oct. 22, 11:15 - 11:30 am, Room 302, West Building Platform Presentation: Identification of recurrent copy number variants associated with developmental brain disorders from whole exome sequencing of 47,859 participants in the DiscovEHR study A.E. Hare - Harris, Geisinger Health System, et al

Eisenstat believes the findings have revealed a new pathway scientists could use to treat developmental brain disorders by getting to the root cause of problem.

Other projects in the laboratory focus on the mechanisms whereby mutations in SOX transcription factors cause developmental brain disorders.

There are new clues about malfunctions in brain cells that contribute to intellectual disability and possibly other developmental brain disorders.

CS may be among the most common X-linked developmental brain disorders.

Fulfilling the promise of molecular medicine in a developmental brain disorder

Christianson syndrome (CS) is a novel, X-linked developmental brain disorder, clinically recognized by the symptoms of global developmental delay, intellectual disability, ataxia, epilepsy, non - or minimally verbal status, ophthalmoplegia and most often postnatal microcephaly [1].