Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders
characterized by impaired neuromuscular signal transmission due to germline pathogenic …

The integrity and preservation of the neuromuscular junction (NMJ), the interface between
the motor neuron and skeletal muscle, is critical for maintaining a healthy skeletal muscle …

To date, there are no approved treatments for the diminished strength and paralysis that
result from the loss of peripheral nerve function due to trauma, heritable neuromuscular …

Preimplantation embryo arrest (PREMBA) is a common cause of female infertility and
recurrent failure of assisted reproductive technology. However, the genetic basis of …

Glioblastoma (GBM) is the most common and aggressive primary brain malignancy.
Adhesion G protein-coupled receptors (aGPCRs) have attracted interest for their potential as …

Proprioception is sensed by muscle spindles for precise locomotion and body posture.
Unlike the neuromuscular junction (NMJ) for muscle contraction which has been well …

Congenital myasthenia syndromes are rare but often treatable conditions affecting
neuromuscular transmission. They result from loss or impaired function of one of a number …

MuSK is a receptor tyrosine kinase (RTK) that plays essential roles in the formation and
maintenance of the neuromuscular junction. Distinct from most members of RTK family …

At the neuromuscular junction, the downstream of tyrosine kinase 7 (DOK7) enhances the
phosphorylation of muscle-specific kinase (MuSK) and induces clustering of acetylcholine …

Neuromuscular junction (NMJ) dysfunction underlies several diseases, including congenital
myasthenic syndromes (CMSs) and motor neuron disease (MND). Molecular pathways …