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 …

Antibodies to the N-methyl-d-aspartate subtype of glutamate receptor have been associated
with a newly-described encephalopathy that has been mainly identified in young females …

Acetylcholine receptor (AChR) antibodies are present in around 85% of patients with
myasthenia gravis (MG) as measured by the conventional radioimmunoprecipitation assay …

Congenital myasthenic syndromes (CMS) are genetic disorders characterised by impaired
neuromuscular transmission. This review provides an overview on CMS and highlights …

The gene products involved in mammalian mitochondrial DNA (mtDNA) maintenance and
organization remain largely unknown. We report here a novel mitochondrial protein …

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To assess factors influencing the success of whole-genome sequencing for mainstream
clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families …

Only around 80% of patients with generalized myasthenia gravis (MG) have serum
antibodies to acetylcholine receptor [AChR; acetylcholine receptor antibody positive …

Antibodies to rat muscle specific kinase, MuSK, have recently been identified in some
generalized “seronegative” myasthenia gravis (SNMG) patients, who are often females with …

Antibody‐mediated autoimmunity underlies a diverse range of disorders, particularly in the
nervous system where the extracellular domains of ion channels and receptors are …