Associated Papers
Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers.
Mohammadi MF et al.
Clinical Case Reports, 2023
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
First characterization of congenital myasthenic syndrome type 5 in North Africa.
Khaoula R et al.
Molecular Biology Reports, 2021
ColQ controls postsynaptic differentiation at the neuromuscular junction.
Sigoillot SM et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
Mihaylova V et al.
Brain : a Journal of Neurology, 2008
Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives.
Schreiner F et al.
Neuromuscular Disorders : Nmd, 2007
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