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
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
38696726 (PubMed )
Supplement: awae124_supplementary_data.pdf
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K et al.
Brain : a Journal of Neurology, 2024
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
Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers.
Mohammadi MF et al.
Clinical Case Reports, 2023
COLQ-mutation congenital myasthenic syndrome in late adolescence: Case report and review of the literature.
Yin Y et al.
Heliyon, 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
A rare mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: A case report.
Vidanagamage A et al.
Neuromuscular Disorders : Nmd, 2021
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.
Aharoni S et al.
Neuromuscular Disorders : Nmd, 2017
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.
Guo Y et al.
Neuromuscular Disorders : Nmd, 2015
Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.
Wargon I et al.
Neuromuscular Disorders : Nmd, 2012
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