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
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.
Pugliese A et al.
Journal of Neuromuscular Diseases, 2023
Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.
Arredondo J et al.
Human Mutation, 2015
[Genetic defects and disorders at the neuromuscular junction].
Ohno K
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2011
Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.
Schara U et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2010
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: 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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