Associated Papers
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
Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea.
Liu Z et al.
Frontiers in Pharmacology, 2019
No Hot Spot Mutations CHRNE c.1327 delG, CHAT c.914T>C, and RAPSN c.264C>A in Iranian Patients with Congenital Myasthenic Syndrome.
Parvizi Omran S et al.
Iranian Journal of Child Neurology, 2019
Clinical and Genetic Features of Congenital Myasthenic Syndromes due to CHAT Mutations: Case Report and Literature Review.
Arican P et al.
Neuropediatrics, 2018
[Clinical and genetic characteristics of congenital myasthenia syndrome with episodic apnea caused by CHAT gene mutation: a report of 2 cases].
Liu ZM et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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
Select a paper to view details