Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous
disorders characterized by defects in the synthesis of glycans and their attachment to …

The post-translational glycosylation of select proteins by O-linked mannose (O-mannose or
O-man) is a conserved modification from yeast to humans and has been shown to be …

Abstract Guillain-Barré Syndrome (GBS) is currently the most frequent cause of acute flaccid
paralysis on a global scale, being an autoimmune disorder wherein demyelination of the …

Background Fetal ventriculomegaly (VM) is a frequent finding in prenatal ultrasound. Rather
than a proper diagnosis, VM is a sonographic sign, making prenatal counseling a complex …

The diagnostic and referral workflow for children with neuromuscular disorders is evolving,
particularly as newborn screening programs are expanding in tandem with novel therapeutic …

HPLC has been employed for decades to enhance detection sensitivity and quantification of
complex analytes within biological mixtures. Among these analytes, glycans released from …

Muscular dystrophies encompass a wide and heterogeneous subset of hereditary
myopathies that manifest by the structural or functional abnormalities in the skeletal muscle …

Brain atrophy, white matter abnormalities, and ventricular enlargement have been described
in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive …

Synaptic ribbons are presynaptic protein complexes that are believed to be important for the
transmission of sensory information in the visual system. Ribbons are selectively associated …

BACKGROUND: Human facial muscles react differently to different visual stimuli. It is known
that the human brain controls and regulates the activity of the muscles. OBJECTIVE: In this …