Latest papers

Variable phenotypes associated with mutations in DOK7.

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

[Slow channel syndrome: clinical and neurophysiological aspects].

Human disorders caused by the disruption of the regulation of excitatory neurotransmission.

Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome.

Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.

Genetic disorders caused by mutated acetylcholine receptors

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

Clinical features of the DOK7 neuromuscular junction synaptopathy.

A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome.

Inositol-1,4,5-triphosphate receptors mediate activity-induced synaptic Ca2+ signals in muscle fibers and Ca2+ overload in slow-channel syndrome.

The CHRNE 470del20 mutation causing congenital myasthenic syndrome in South African Brahman cattle: prevalence, origin, and association with performance traits.

Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives.

Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred.

A new analytical method to diagnose congenital myasthenia with stimulated single-fiber electromyography.

Implications of the quaternary twist allosteric model for the physiology and pathology of nicotinic acetylcholine receptors.

Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.