Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor (original) (raw)
Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor
Andrew Engel
Muscle & Nerve, 1993
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Newly recognized congenital myasthenic syndrome associated with high conductance and fast closure of the acetylcholine receptor channel
John Bodensteiner, Andrew Engel
Annals of Neurology, 1993
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Myasthenic Syndromes Attributed to Mutations Affecting the Epsilon Subunit of the Acetylcholine Receptor
Andrew Engel
Annals of the New York Academy of Sciences, 1993
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Electrophysiological study in synaptic congenital myasthenic syndrome: end-plate acetylcholinesterase deficiency
Lineu Werneck
Arquivos de Neuro-Psiquiatria, 2009
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Congenital myasthenic syndromes: genetic defects of the neuromuscular junction
Andrew Engel
Current neurology and neuroscience reports, 2002
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Mutation of the acetylcholine receptor α subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity
Andrew Engel
Neuron, 1995
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Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit
Steven m. M Sine
Proceedings of the National Academy of Sciences, 1995
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New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome
Nina Bren
Human Molecular Genetics, 1996
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Congenital Myasthenic Syndrome Caused by Decreased Agonist Binding Affinity Due to a Mutation in the Acetylcholine Receptor ε Subunit
Nina Bren
Neuron, 1996
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Slow-Channel Congenital Myasthenic Syndrome due to a Novel Mutation in the Acetylcholine Receptor Alpha Subunit in a South Asian: A Case Report
Sunethra Senanayake
Journal of neuromuscular diseases, 2021
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Congenital myasthenic syndromes: Experiments of nature
Andrew Engel
Journal of Physiology-Paris, 1998
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Slow-Channel Myasthenic Syndrome Caused By Enhanced Activation, Desensitization, and Agonist Binding Affinity Attributable to Mutation in the M2 Domain of the Acetylcholine Receptor α Subunit
Steven m. M Sine
The Journal of Neuroscience, 1997
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The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms
Stefan Nicolau
Frontiers in Neurology
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Slow-Channel Myasthenic Syndrome Caused By Enhanced Activation, Desensitization, and Agonist Binding Affinity Attributable to Mutation in the M2 Domain of the Acetylcholine Receptor a Subunit
Nina Bren
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Congenital Myasthenic Syndromes due to Heteroallelic Nonsense/Missense Mutations in the Acetylcholine Receptor Subunit Gene: Identification and Functional Characterization of Six New Mutations
Andrew Engel
Human Molecular Genetics, 1997
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The Spectrum of Congenital Myasthenic Syndromes
Andrew Engel
Molecular Neurobiology, 2002
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Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation
Daniel Hantai
Neuromuscular Disorders, 2004
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Congenital myasthenic syndromes: Progress over the past decade
Andrew Engel
Muscle & Nerve, 2003
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Congenital Myasthenic Syndrome Associated with Paucity of Synaptic Vesicles and Reduced Quantal Release
Andrew Engel
Annals of the New York Academy of Sciences, 1993
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The therapy of congenital myasthenic syndromes
Andrew Engel
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2007
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Abnormal neuromuscular transmission in an infantile myasthenic syndrome
Katerina Dorovini-zis
Annals of Neurology, 1984
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A novel c.973G>T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family
Parvaneh Karimzadeh
Balkan Journal of Medical Genetics, 2019
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Congenital myasthenic syndrome caused by decreased receptor channel openings due to a novel mutation in the nAChR ε-subunit
Daniel Hantaï
Journal of Physiology-Paris, 2006
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Studies of human myasthenia gravis: electrophysiological and ultrastructural evidence compatible with antibody attachment to acetylcholine receptor complex
John Rash
Proceedings of the National Academy of Sciences, 1976
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What Have We Learned from the Congenital Myasthenic Syndromes
Andrew Engel
Journal of Molecular Neuroscience, 2010
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Current understanding of congenital myasthenic syndromes
Andrew Engel
Current Opinion in Pharmacology, 2005
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Mutations in Different Functional Domains of the Human Muscle Acetylcholine Receptor Subunit in Patients with the Slow-Channel congenital Myasthenic Syndrome
David Beeson
Human Molecular Genetics, 1997
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Repetitive compound muscle action potentials in electrophysiological diagnosis of congenital myasthenic syndromes: A case report and review of literature
Abraham Kuruvilla
Annals of Indian Academy of Neurology, 2010
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