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
Clinical and Genetic Features of Congenital Myasthenic Syndromes due to CHAT Mutations: Case Report and Literature Review.
Arican P et al.
Neuropediatrics, 2018
Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.
Arredondo J et al.
Human Mutation, 2015
What have we learned from the congenital myasthenic syndromes.
Engel AG et al.
Journal of Molecular Neuroscience : Mn, 2010
Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome.
Proschowsky HF et al.
The Journal of Heredity, 2007
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
Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis.
Maselli RA et al.
Muscle & Nerve, 2003
Congenital myasthenic syndromes: A diverse array of molecular targets.
Engel AG et al.
Journal of Neurocytology, 0
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