Associated Papers
Congenital myasthenic syndromes a rare case of AGRN mutation.
Parrey AH et al.
American Journal of Neurodegenerative Disease, 2025
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
Jacquier A et al.
Acta Neuropathologica, 2022
Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner.
Ohkawara B et al.
Jci Insight, 2020
Novel NtA and LG1 Mutations in Agrin in a Single Patient Causes Congenital Myasthenic Syndrome.
Wang A et al.
Frontiers in Neurology, 2020
Pathogenic effects of agrin V1727F mutation are isoform specific and decrease its expression and affinity for HSPGs and LRP4.
Rudell JB et al.
Human Molecular Genetics, 2019
Dissecting the Extracellular Complexity of Neuromuscular Junction Organizers.
Guarino SR et al.
Frontiers in Molecular Biosciences, 2019
Congenital Myasthenic Syndromes in 2018.
Engel AG
Current Neurology and Neuroscience Reports, 2018
Animal Models of the Neuromuscular Junction, Vitally Informative for Understanding Function and the Molecular Mechanisms of Congenital Myasthenic Syndromes.
Webster RG
International Journal of Molecular Sciences, 2018
Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome.
Xi J et al.
Orphanet Journal of Rare Diseases, 2017
A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb-girdle Muscle.
Zhang Y et al.
Chinese Medical Journal, 2017
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop.
Karakaya M et al.
Journal of Clinical Neuromuscular Disease, 2017
Clinical and genetic basis of congenital myasthenic syndromes.
Souza PV et al.
Arquivos De Neuro-psiquiatria, 2016
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Nicole S et al.
Brain : a Journal of Neurology, 2014
Congenital myasthenic syndromes: an update.
Hantaï D et al.
Current Opinion in Neurology, 2013
Synaptic basal lamina-associated congenital myasthenic syndromes.
Maselli RA et al.
Annals of the New York Academy of Sciences, 2012
LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.
Maselli RA et al.
Human Genetics, 2012
186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands.
Chaouch A et al.
Neuromuscular Disorders : Nmd, 2012
Congenital myasthenic syndromes in 2012.
Engel AG
Current Neurology and Neuroscience Reports, 2012
Current status of the congenital myasthenic syndromes.
Engel AG
Neuromuscular Disorders : Nmd, 2012
A valid mouse model of AGRIN-associated congenital myasthenic syndrome.
Bogdanik LP et al.
Human Molecular Genetics, 2011
[Genetic defects and disorders at the neuromuscular junction].
Ohno K
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2011
Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.
Huzé C et al.
American Journal of Human Genetics, 2009