Associated Papers
Compound heterozygous CHAT gene mutations, a missense and a splice site variant, in two siblings with congenital myasthenic syndrome.
Kikuchi S et al.
Scientific Reports, 2026
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Clinical and Genetic Features of Congenital Myasthenic Syndromes due to CHAT Mutations: Case Report and Literature Review.
Arican P et al.
Neuropediatrics, 2018
Current understanding of congenital myasthenic syndromes.
Engel AG et al.
Current Opinion in Pharmacology, 2005
Choline acetyltransferase structure reveals distribution of mutations that cause motor disorders.
Cai Y et al.
The Embo Journal, 2004
Congenital myasthenic syndromes: progress over the past decade.
Engel AG et al.
Muscle & Nerve, 2003
Congenital myasthenic syndromes: genetic defects of the neuromuscular junction.
Ohno K et al.
Current Neurology and Neuroscience Reports, 2002
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.
Ohno K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2001
The spectrum of congenital myasthenic syndromes.
Engel AG et al.
Molecular Neurobiology, 0
Congenital myasthenic syndromes: A diverse array of molecular targets.
Engel AG et al.
Journal of Neurocytology, 0
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