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Lancet Neurology, The, ISSN 1474-4422, 2015, Volume 14, Issue 4, pp. 420 - 434
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 09/2015, Volume 5, Issue 1, p. 13928
MuSK antibody-positive myasthenia gravis (MuSK-MG) accounts for 5 to 15% of autoimmune MG. MuSK and LRP4 are coreceptors for agrin in the signaling pathway... 
POSITIVE MG | ANCHORING ACETYLCHOLINESTERASE | SERONEGATIVE MYASTHENIA-GRAVIS | CRYSTAL-STRUCTURE | WNT RECEPTOR | MULTIDISCIPLINARY SCIENCES | PLATE ACETYLCHOLINESTERASE DEFICIENCY | HEPARIN-BINDING DOMAINS | TAIL SUBUNIT | NEUROMUSCULAR-JUNCTION | RECEPTOR TYROSINE KINASE | LDL-Receptor Related Proteins - metabolism | Neuromuscular Junction - metabolism | Humans | Receptor Protein-Tyrosine Kinases - immunology | Agrin - metabolism | Acetylcholinesterase - genetics | Autoantibodies - pharmacology | Epitopes - immunology | Immunoglobulin G - immunology | Muscle Proteins - metabolism | Neuromuscular Junction - genetics | Receptor Protein-Tyrosine Kinases - antagonists & inhibitors | Collagen - genetics | Protein Interaction Domains and Motifs | Cell Line | Receptors, Nicotinic - metabolism | Receptors, Cholinergic - metabolism | Receptors, Cholinergic - chemistry | Receptor Protein-Tyrosine Kinases - metabolism | Mice, Knockout | Gene Expression Regulation - drug effects | Muscle Proteins - genetics | Collagen - metabolism | Autoantibodies - immunology | Animals | Receptor Protein-Tyrosine Kinases - genetics | Signal Transduction - drug effects | Models, Biological | Immunization, Passive | Protein Binding | Receptors, Cholinergic - immunology | Mice | Receptors, Nicotinic - genetics | Acetylcholinesterase - metabolism | Receptor Protein-Tyrosine Kinases - chemistry | Immunoglobulin G - metabolism | Receptors, Cholinergic - genetics | Immunoglobulin G | Antibodies | Acetylcholinesterase | Signal transduction | Myasthenia gravis | Agrin | Collagen | Rodents | MUSK protein | Acetylcholine receptors | Basal lamina | Neuromuscular junctions | Receptor density | Myasthenia
Journal Article
Brain, ISSN 0006-8950, 3/2008, Volume 131, Issue 3, pp. 747 - 759
Journal Article
Matrix Biology, ISSN 0945-053X, 08/2018, Volume 68-69, pp. 628 - 636
Endplate acetylcholinesterase (AChE) deficiency is a form of congenital myasthenic syndrome (CMS) caused by mutations in COLQ, which encodes collagen Q (ColQ).... 
Endplate acetylcholinesterase deficiency | Collagen Q | Biglycan | Neuromuscular junction | Duchenne muscular dystrophy | Protein-anchoring therapy | SCHWARTZ-JAMPEL-SYNDROME | TOLL-LIKE | BIGLYCAN BINDS | RETINAL STRUCTURE | BIOCHEMISTRY & MOLECULAR BIOLOGY | PLATE ACETYLCHOLINESTERASE DEFICIENCY | DUCHENNE MUSCULAR-DYSTROPHY | GENE-THERAPY | CONGENITAL MYASTHENIC SYNDROME | NEUROMUSCULAR-JUNCTION | PERLECAN GENE | CELL BIOLOGY | Genetic Vectors - administration & dosage | Biglycan - genetics | Humans | Extracellular Matrix - metabolism | Acetylcholinesterase - genetics | Extracellular Matrix - genetics | Myasthenic Syndromes, Congenital - therapy | Dependovirus - chemistry | Muscle Proteins - metabolism | Collagen - genetics | Muscular Dystrophy, Duchenne - therapy | Disease Models, Animal | Myasthenic Syndromes, Congenital - genetics | Actin Cytoskeleton - metabolism | Biglycan - metabolism | GPI-Linked Proteins - metabolism | Muscle Proteins - genetics | Myasthenic Syndromes, Congenital - metabolism | Collagen - metabolism | Animals | Dystrophin-Associated Protein Complex - metabolism | Mice | Muscular Dystrophy, Duchenne - metabolism | Muscular Dystrophy, Duchenne - genetics | Acetylcholinesterase - metabolism | Genetic Therapy - methods | Collagen | Analysis | Physiological aspects | Muscles | Creatine | Gene expression | Dystrophin | Protein binding
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 07/2019, Volume 28, Issue 14, pp. 2339 - 2351
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2014, Volume 9, Issue 8, p. e106425
Journal Article