Clinical features of the DOK7 neuromuscular junction synaptopathy - Wikidata - wikimedia - TriplyDB

Clinical features of the DOK7 neuromuscular junction synaptopathy

Clinical features of the DOK7 neuromuscular junction synaptopathy

http://www.wikidata.org/entity/Q28298999

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Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders The emerging diversity of neuromuscular junction disorders Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction An ocular motility conundrum.Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7 DOK7 congenital myasthenic syndrome.Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon-subunit mutations Current status of the congenital myasthenic syndromes.Multiscale Simulations Suggest a Mechanism for the Association of the Dok7 PH Domain with PIP-Containing Membranes.Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.Myasthenia gravis induced by autoantibodies against MuSK.Clinical aspects of myasthenia explained.Docking proteins.Synaptic dysfunction in congenital myasthenic syndromes.Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.Clinical features of the myasthenic syndrome arising from mutations in GMPPB.Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.Dok-7/MuSK signaling and a congenital myasthenic syndrome.SRSF1 suppresses selection of intron-distal 5' splice site of DOK7 intron 4 to generate functional full-length Dok-7 protein.Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.Effect of 3,4-diaminopyridine at the murine neuromuscular junction.Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis.Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A.Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.The carboxyl-terminal region of Dok-7 plays a key, but not essential, role in activation of muscle-specific receptor kinase MuSK and neuromuscular synapse formation.Beta-2 Adrenergic Receptor Agonists Enhance AChR Clustering in C2C12 Myotubes: Implications for Therapy of Myasthenic Disorders.Animal Models of the Neuromuscular Junction, Vitally Informative for Understanding Function and the Molecular Mechanisms of Congenital Myasthenic Syndromes.The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

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P2860

Clinical features of the DOK7 neuromuscular junction synaptopathy

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2007 nî lūn-bûn

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2007 թուականի Յունիսին հրատարակուած գիտական յօդուած

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Clinical features of the DOK7 neuromuscular junction synaptopathy

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Clinical features of the DOK7 neuromuscular junction synaptopathy

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Clinical features of the DOK7 neuromuscular junction synaptopathy

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Clinical features of the DOK7 neuromuscular junction synaptopathy

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Clinical features of the DOK7 neuromuscular junction synaptopathy

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Clinical features of the DOK7 neuromuscular junction synaptopathy

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Clinical features of the DOK7 neuromuscular junction synaptopathy

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Clinical features of the DOK7 neuromuscular junction synaptopathy

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Clinical features of the DOK7 neuromuscular junction synaptopathy

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Daniel Lashley

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David Beeson

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10.1093/BRAIN/AWM072

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Pt 6

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130

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Jacqueline Palace

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