Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.
Hesami O et al.
Orphanet Journal of Rare Diseases, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 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
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
COLQ-related congenital myasthenic syndrome: An integrative view.
Eshaghian T et al.
Neurogenetics, 2023
Two patients with congenital myasthenic syndrome caused by COLQ gene mutations and the consequent ColQ protein defect.
Zhang Q et al.
Heliyon, 2023
Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations.
Shao S et al.
Current Neuropharmacology, 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
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.
Arredondo J et al.
Human Genetics, 2014
Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis.
Duran GS et al.
Acta Neurologica Belgica, 2013
Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction.
Nakata T et al.
Human Mutation, 2013
[Clinical features of congenital myasthenic syndrome in Japan].
Irahara K et al.
No to Hattatsu = Brain and Development, 2012
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.
Abicht A et al.
Human Mutation, 2012
Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.
Wargon I et al.
Neuromuscular Disorders : Nmd, 2012
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.
Liewluck T et al.
Muscle & Nerve, 2011
What have we learned from the congenital myasthenic syndromes.
Engel AG et al.
Journal of Molecular Neuroscience : Mn, 2010
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: 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
The spectrum of mutations causing end-plate acetylcholinesterase deficiency.
Ohno K et al.
Annals of Neurology, 2000
Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.
Ohno K et al.
Proceedings of the National Academy of Sciences of the United States of America, 1998
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