Disease: Myasthenic syndrome- congenital- associated with acetylcholine receptor deficiency
- A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome
- A Novel c.973G>T Mutation in the ε-subunit of the Acetylcholine Receptor Causing Congenital Myasthenic Syndrome in an Iranian Family
- A Novel c.973G>T Mutation in the epsilon-subunit of the Acetylcholine Receptor Causing Congenital Myasthenic Syndrome in an Iranian Family
- Beneficial effects of 3,4-diaminopyridine in a 26-year-old woman with DOK7 congenital myasthenic syndrome who was originally diagnosed with facioscapulohumeral dystrophy
- Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans
- CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn
- Collagen Q is a key player for developing rational therapy for congenital myasthenia and for dissecting the mechanisms of anti-MuSK myasthenia gravis
- Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literature
- Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation
- Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in <em>CHRNE</em> gene
- Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene
- Congenital myasthenic syndromes
- Congenital myasthenic syndromes
- Congenital myasthenic syndromes
- Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up
- Congenital myasthenic syndromes in two kinships with end-plate acetylcholine receptor and utrophin deficiency
- Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction
- Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment
- Congenital myasthenic syndromes: progress over the past decade
- Congenital myasthenic syndromes: recent advances
- Distinct phenotypes of congenital acetylcholine receptor deficiency
- Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations
- Editorial introduction: from the structure and functions of the neuromuscular junction to the diseases
- End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit
- Genes at the junction--candidates for congenital myasthenic syndromes
- Histochemical findings of and fine structural changes in motor endplates in diseases with neuromuscular transmission abnormalities
- Improved plasma membrane expression of the trafficking defective P344R mutant of muscle, skeletal, receptor tyrosine kinase (MuSK) causing congenital myasthenic syndrome
- Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum
- Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation
- Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ
- MuSK frizzled-like domain is critical for mammalian neuromuscular junction formation and maintenance
- MuSK: a new target for lethal fetal akinesia deformation sequence (FADS)
- Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR
- Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction
- Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients
- Novel congenital myasthenic syndromes associated with defects in quantal release
- Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome
- Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis
- The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant
- The spectrum of congenital myasthenic syndromes
- Utrophin abundance is reduced at neuromuscular junctions of patients with both inherited and acquired acetylcholine receptor deficiencies