A ?-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome (original) (raw)
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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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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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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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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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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Slow-Channel Syndromes • review article • Decoding Pathogenesis of Slow-channel congenital Myasthenic Syndromes using recombinant expression and Mice Models
Emanuel Reyes
2010
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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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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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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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Acetylcholine receptor δ subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita
David Beeson
Journal of Clinical Investigation, 2001
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Serum choline activates mutant acetylcholine receptors that cause slow channel congenital myasthenic syndromes
Anthony Auerbach
Proceedings of the National Academy of Sciences, 1999
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Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor
Andrew Engel
Muscle & Nerve, 1993
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Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine
feza deymeer
Acta Neurologica Belgica, 2020
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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
Andrew Engel
Proceedings of the National Academy of Sciences, 1995
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Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms
Legier Rojas
Annals of Neurology, 2002
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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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Decoding Pathogenesis of Slow-Channel Congenital Myasthenic Syndromes using Recombinant Expression and Mice Models
Carlos Luciano
Puerto Rico Health Sciences Journal, 2010
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Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating
Steven m. M Sine
Journal of Clinical Investigation, 2012
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Attributable to Mutation in the M 2 Domain of the Acetylcholine Receptor a Subunit
Steven m. M Sine
1997
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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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Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor
Andrew Engel
Muscle & Nerve, 1993
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Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit
Nur Yuceyar
JCI insight, 2018
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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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Congenital myasthenic syndromes: genetic defects of the neuromuscular junction
Andrew Engel
Current neurology and neuroscience reports, 2002
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Congenital Myasthenic Syndrome Caused by Novel Loss-of-Function Mutations in the Human AChR e Subunit Genea
Xin-ming Shen
Annals of the New York Academy of Sciences, 1998
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Myasthenic syndrome caused by mutation of the SCN4A sodium channel
Xin-ming Shen
Proceedings of the National Academy of Sciences, 2003
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Congenital myasthenic syndromes: Progress over the past decade
Andrew Engel
Muscle & Nerve, 2003
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