Associated Papers
Characterization of Novel Splicing Mutations and a Recurrent Deletion in COLQ Congenital Myasthenic Syndrome.
Liu Y et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
COLQ-related congenital myasthenic syndrome: An integrative view.
Eshaghian T et al.
Neurogenetics, 2023
Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations.
Shao S et al.
Current Neuropharmacology, 2023
36703579 (PubMed )
Supplement: CN-21-1594_SD1.pdf
Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol.
Chan SH et al.
Pediatric Neurology, 2012
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
Mihaylova V et al.
Brain : a Journal of Neurology, 2008
Further observations in congenital myasthenic syndromes.
Engel AG et al.
Annals of the New York Academy of Sciences, 2008
Congenital myasthenic syndromes: genetic defects of the neuromuscular junction.
Ohno K et al.
Current Neurology and Neuroscience Reports, 2002
The spectrum of mutations causing end-plate acetylcholinesterase deficiency.
Ohno K et al.
Annals of Neurology, 2000
Congenital myasthenic syndromes: A diverse array of molecular targets.
Engel AG et al.
Journal of Neurocytology, 0
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