Extracellular matrix (ECM) is a kind of connective tissue in the cell microenvironment, which
is of great significance to tissue development. ECM in muscle fiber niche consists of three …

The neuromuscular junction (NMJ) is a highly specialized synapse between a motor neuron
nerve terminal and its muscle fiber that are responsible for converting electrical impulses …

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

BackgroundChildhood is a crucial neurodevelopmental period. We investigated whether
childhood reading for pleasure (RfP) was related to young adolescent assessments of …

Recent studies of the CMS illustrate the increasing complexity of the genetics and
pathophysiological mechanisms involved. With therapy tailored for the underlying disease …

Highly abundant in mammals, collagens define the organization of tissues and participate in
cell signalling. Most of the 28 vertebrate collagens, with the exception of collagens VI, VII …

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

Although myopathies and neuromuscular junction disorders are typically distinct, their
coexistence has been reported in several inherited and acquired conditions. Affected …

Objectives To present phenotype features of a large cohort of congenital myasthenic
syndromes (CMS) and correlate them with their molecular diagnosis. Methods Suspected …

Collagens are the most abundant structural proteins in the extracellular matrix of animals
and play crucial roles in maintaining the structural integrity and mechanical properties of …