Associated Papers
Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes.
Guan J et al.
Brain & Development, 2025
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
38696726 (PubMed )
Supplement: awae124_supplementary_data.pdf
Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene.
Ardissone A et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2017
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.
Abicht A et al.
Human Mutation, 2012
Congenital myasthenic syndrome: a brief review.
Lorenzoni PJ et al.
Pediatric Neurology, 2012
Current status of the congenital myasthenic syndromes.
Engel AG
Neuromuscular Disorders : Nmd, 2012
Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes.
Barišić N et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2011
Molecular characterisation of congenital myasthenic syndromes in Southern Brazil.
Mihaylova V et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2010
Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.
Brugnoni R et al.
Journal of Neurology, 2010
Select a paper to view details