Current understanding of congenital myasthenic syndromes.
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Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disordersThe cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerizationThe emerging diversity of neuromuscular junction disordersEscobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunitThe nicotinic acetylcholine receptor Dalpha7 is required for an escape behavior in DrosophilaCrystal Structure of the Frizzled-Like Cysteine-Rich Domain of the Receptor Tyrosine Kinase MuSKMain Immunogenic Region Structure Promotes Binding of Conformation-Dependent Myasthenia Gravis Autoantibodies, Nicotinic Acetylcholine Receptor Conformation Maturation, and Agonist SensitivityPyridostigmine but not 3,4-diaminopyridine exacerbates ACh receptor loss and myasthenia induced in mice by muscle-specific kinase autoantibodyRecent advances in Cys-loop receptor structure and functionLrp4 is a receptor for Agrin and forms a complex with MuSKA signal peptide missense mutation associated with nicotine dependence alters α2*-nicotinic acetylcholine receptor function.Assessment of the functionality and stability of detergent purified nAChR from Torpedo using lipidic matrixes and macroscopic electrophysiology.An ocular motility conundrum.High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarraysA Cys-loop mutation in the Caenorhabditis elegans nicotinic receptor subunit UNC-63 impairs but does not abolish channel functionA mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.Implications of the quaternary twist allosteric model for the physiology and pathology of nicotinic acetylcholine receptors.Targeting of the ETS factor GABPalpha disrupts neuromuscular junction synaptic function.Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship.COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy.Clinical aspects of neuromuscular transmission disorders.Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.Dose-Response Analysis When There Is a Correlation between Affinity and Efficacy.Muscle and neuronal nicotinic acetylcholine receptors. Structure, function and pathogenicity.Congenital myasthenic syndromes: Clinical and molecular report on 7 Sicilian patientsDok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndromeMutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome.A descending cranial nerve palsy during the christmas holidays.A modified acetylcholine receptor delta-subunit enables a null mutant to survive beyond sexual maturation.Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.Therapeutic strategies in congenital myasthenic syndromes.Design of efficient DNAzymes against muscle AChR alpha-subunit cRNA in vitro and in HEK 293 cells.AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese FamilyAntibody effector mechanisms in myasthenia gravis-pathogenesis at the neuromuscular junction.From toxins targeting ligand gated ion channels to therapeutic molecules.Molecular control of neuromuscular junction developmentNeuromuscular disorders in zebrafish: state of the art and future perspectives.In Vitro Innervation as an Experimental Model to Study the Expression and Functions of Acetylcholinesterase and Agrin in Human Skeletal Muscle.
P2860
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P2860
Current understanding of congenital myasthenic syndromes.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
Current understanding of congenital myasthenic syndromes.
@ast
Current understanding of congenital myasthenic syndromes.
@en
type
label
Current understanding of congenital myasthenic syndromes.
@ast
Current understanding of congenital myasthenic syndromes.
@en
prefLabel
Current understanding of congenital myasthenic syndromes.
@ast
Current understanding of congenital myasthenic syndromes.
@en
P1476
Current understanding of congenital myasthenic syndromes.
@en
P2093
Andrew G Engel
Steven M Sine
P304
P356
10.1016/J.COPH.2004.12.007
P577
2005-06-01T00:00:00Z