Associated Papers
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.
Kulsirichawaroj P et al.
Pediatric Research, 2025
40494860 (PubMed )
Supplement: 41390_2025_4160_MOESM3_ESM.pdf
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
COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.
Hesami O et al.
Orphanet Journal of Rare Diseases, 2024
Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.
Barbeau S et al.
International Journal of Molecular Sciences, 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
First characterization of congenital myasthenic syndrome type 5 in North Africa.
Khaoula R et al.
Molecular Biology Reports, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Generation of a human induced pluripotent stem cell line (iPSC) from peripheral blood mononuclear cells of a patient with a myasthenic syndrome due to mutation in COLQ.
Barbeau S et al.
Stem Cell Research, 2020
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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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