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 (original) (raw)

The Journal of Neuroscience, 1997

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome

Nina Bren

Human Molecular Genetics, 1996

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

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

Congenital Myasthenic Syndrome Caused by Decreased Agonist Binding Affinity Due to a Mutation in the Acetylcholine Receptor ε Subunit

Nina Bren

Neuron, 1996

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

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit

Proceedings of the National Academy of Sciences, 1995

Congenital Myasthenic Syndromes due to Heteroallelic Nonsense/Missense Mutations in the Acetylcholine Receptor Subunit Gene: Identification and Functional Characterization of Six New Mutations

Human Molecular Genetics, 1997

Mutation of the acetylcholine receptor α subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity

Neuron, 1995

A ?-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome

Jose Lasalde

Annals of Neurology, 1996

Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor

Muscle & Nerve, 1993

Acetylcholine receptor δ subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita

David Beeson

Journal of Clinical Investigation, 2001

Slow-Channel Syndromes • review article • Decoding Pathogenesis of Slow-channel congenital Myasthenic Syndromes using recombinant expression and Mice Models

Emanuel Reyes

2010

Attributable to Mutation in the M 2 Domain of the Acetylcholine Receptor a Subunit

1997

Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit

Nur Yuceyar

JCI insight, 2018

Decoding pathogenesis of slow-channel congenital myasthenic syndromes using recombinant expression and mice models

Emanuel Reyes

Puerto Rico health sciences journal, 2010

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

Frameshifting and Splice-Site Mutations in the Acetylcholine Receptor e Subunit Gene in Three Turkish Kinships with Congenital Myasthenic Syndromesa

Annals of the New York Academy of Sciences, 1998

Serum choline activates mutant acetylcholine receptors that cause slow channel congenital myasthenic syndromes

Anthony Auerbach

Proceedings of the National Academy of Sciences, 1999

Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor

Annals of Neurology, 1998

Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship

Suppachok Wetchaphanphesat

Neuromuscular Disorders, 2011

Genes at the junction—candidates for congenital myasthenic syndromes

David Beeson

Trends in Neurosciences, 1997

Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor

Muscle & Nerve, 1993

Frameshifting and splice-site mutations in the acetylcholine receptor epsilon subunit gene in three Turkish kinships with congenital myasthenic syndromes

Annals of the New York Academy of Sciences, 1998

Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating

Journal of Clinical Investigation, 2012

New horizons for congenital myasthenic syndromes

Xin-ming Shen

Annals of the New York Academy of Sciences, 2012

Congenital myasthenic syndromes: Progress over the past decade

Muscle & Nerve, 2003

Congenital myasthenic syndromes: A diverse array of molecular targets

Journal of Neurocytology, 2003

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