Christopher A. Walsh

TL;DR: The neural function of cystatin B, recently implicated in EPM1, is unclear but may lead to new insights into the mechanisms of epilepsy.

TL;DR: The data highlight the multifaceted role of MADD as a signalling molecule in different organs and reveal its physiological role in regulating the function of the sensory and autonomic nervous system and endo- and exocrine glands.

TL;DR: It is postulated that analysis of relative cerebellar and brain stem size may be useful in the initial analysis of microcephaly by MR images both to categorize and to help determine likely genetic causes.

TL;DR: For example, when neurons are bunched close together and their neurites are touching each other, the Notch receptor is activated and neurites retract as mentioned in this paper, but if neurons are spaced too widely apart and their notch receptors are not activated, neurites continue to grow and extend until they connect with the neurites of their neighbors.

TL;DR: In this paper, the authors analyzed WGS data from a cohort of 2288 ASD families from the Simons Simplex Collection by establishing a scalable computational pipeline for retrotransposon insertion detection.