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The American Journal of Human Genetics, ISSN 0002-9297, 08/2009, Volume 85, Issue 2, pp. 155 - 167
We report the case of a congenital myasthenic syndrome due to a mutation in , the gene encoding agrin, an extracellular matrix molecule released by the nerve... 
MUTANT MICE | PROTEIN | DEFICIENT | GENETICS & HEREDITY | MUSCULAR-DYSTROPHY | SKELETAL-MUSCLE FIBERS | DIFFERENTIATION | NEUROMUSCULAR-JUNCTION | DYSTROGLYCAN | BINDING | ACETYLCHOLINE-RECEPTOR | Agrin - chemistry | Models, Chemical | Neuromuscular Junction - metabolism | Humans | Dystroglycans - metabolism | Male | Muscle, Skeletal - metabolism | Muscle Fibers, Skeletal - metabolism | Mutation, Missense | Agrin - metabolism | Muscle, Skeletal - surgery | Synapses - metabolism | DNA Mutational Analysis | Neuromuscular Junction - genetics | Adult | Female | Myasthenic Syndromes, Congenital - genetics | Protein Structure, Tertiary | Recombinant Proteins - metabolism | Agrin - genetics | Cell Line | Receptors, Cholinergic - metabolism | Muscle, Skeletal - ultrastructure | Rats | Recombinant Proteins - chemistry | Neuromuscular Junction - ultrastructure | Receptors, Cholinergic - physiology | Animals | Biopsy | Pedigree | Muscle Fibers, Skeletal - cytology | Muscle, Skeletal - pathology | Neuromuscular Junction - physiology | Receptors, Cholinergic - genetics | Myasthenia gravis | Gene mutations | Analysis | Physiological aspects | Genetic aspects | Research | Neuromuscular junction | Synapses | Cell culture | Glycoproteins | Genetic disorders | Mutation | Muscular system | Rodents | Index Medicus | Life Sciences | Genetics | Neurons and Cognition
Journal Article
Toxicon, ISSN 0041-0101, 02/2019, Volume 158, pp. S66 - S66
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2013, Volume 110, Issue 48, pp. 19348 - 19353
Journal Article
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 06/2016, Volume 75, Issue 6, pp. 1228 - 1235
Journal Article
Muscle & Nerve, ISSN 0148-639X, 05/2018, Volume 57, Issue 5, pp. 814 - 820
Introduction : Agrin is essential for the formation and maintenance of neuromuscular junctions (NMJs). NT‐1654 is a C‐terminal fragment of mouse neural agrin.... 
myasthenia gravis | acetylcholine receptor | neuromuscular junctions | agrin | RAPSYN | FUTURE | CLEAVAGE | NEUROSCIENCES | CLINICAL NEUROLOGY | ACETYLCHOLINE-RECEPTORS | EAMG | SKELETAL-MUSCLE FIBERS | PROTEINS | Autoantibodies - metabolism | Freund's Adjuvant - toxicity | Agrin - chemistry | Agrin - therapeutic use | Membrane Glycoproteins - metabolism | Muscular Atrophy - therapy | Rats, Inbred Lew | Dose-Response Relationship, Drug | Agrin - biosynthesis | Female | Electromyography | Neurofibromin 1 - metabolism | Muscular Atrophy - etiology | Neuromuscular Junction - pathology | Disease Models, Animal | Myasthenia Gravis, Autoimmune, Experimental - drug therapy | Immunization - adverse effects | Receptors, Cholinergic - metabolism | Myasthenia Gravis, Autoimmune, Experimental - pathology | Rats | Peptide Fragments - biosynthesis | Action Potentials - physiology | Gene Expression Regulation - drug effects | Nerve Tissue Proteins - metabolism | Peptide Fragments - chemistry | Animals | Receptors, Cholinergic - immunology | Peptide Fragments - therapeutic use | Muscle, Skeletal - pathology | Phosphates | Multiple sclerosis | Myasthenia gravis | Immunization | Impairment | Muscles | Clustering | Reduction | Experimental autoimmune myasthenia gravis | Agrin | Freund's adjuvant | Acetylcholine receptors | Attenuation | Neuromuscular junctions | Myasthenia | Acetylcholine | Index Medicus
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