Inborn errors of metabolism (IEMs) are particularly frequent as diseases of the nervous
system. In the pediatric neurologic presentations of IEMs neurodevelopment is constantly …

Posttranscriptional gene regulation includes mRNA transport, localization, translation, and
regulation of mRNA stability. CPEB (c ytoplasmic p olyadenylation e lement b inding) family …

Common genetic contributions to autism spectrum disorder (ASD) reside in risk gene
variants that individually have minimal effect sizes. As environmental factors that perturb …

The inclusion of microexons by alternative splicing occurs frequently in neuronal proteins.
The roles of these sequences are largely unknown, and changes in their degree of inclusion …

Spinal muscular atrophy (SMA) is a fatal genetic disease, mainly affecting children. A
number of recent studies show, aside from lower motor neuron degeneration and atrophy of …

Neuromuscular junctions (NMJs) are a special type of chemical synapse that transmits
electrical stimuli from motor neurons (MNs) to their innervating skeletal muscle to induce a …

Myotonic dystrophy type 1 is a multisystem genetic disorder involving the muscle, heart and
CNS. It is caused by toxic RNA transcription from expanded CTG repeats in the 3 …

Knowledge about the structural and dynamic properties of proteins that form membrane-less
organelles in cells via liquid–liquid phase separation (LLPS) is required for understanding …

Aim To delineate the neurogenetic profiles of brain degeneration patterns in myotonic
dystrophy type I (DM1). Methods In two cohorts of DM1 patients, brain maps of volume loss …

Abstract Low Complexity Regions (LCRs) are present in a surprisingly large number of
eukaryotic proteins. These highly repetitive and compositionally biased sequences are often …