Associated Papers
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
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
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
Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ Gene.
Luo X et al.
Frontiers in Pediatrics, 2021
The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
Laforgia N et al.
Genes, 2020
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L et al.
Genes, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Congenital myasthenic syndromes with acetylcholinesterase deficiency, the pathophysiological mechanisms.
Legay C
Annals of the New York Academy of Sciences, 2018
Molecular characterization of congenital myasthenic syndromes in Spain.
Natera-de Benito D et al.
Neuromuscular Disorders : Nmd, 2017
Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction.
Nakata T et al.
Human Mutation, 2013
Pregnancy in congenital myasthenic syndrome.
Servais L et al.
Journal of Neurology, 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
Current status of the congenital myasthenic syndromes.
Engel AG
Neuromuscular Disorders : Nmd, 2012
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
Mihaylova V et al.
Brain : a Journal of Neurology, 2008
126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.
Beeson D et al.
Neuromuscular Disorders : Nmd, 2005
C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse.
Kimbell LM et al.
The Journal of Biological Chemistry, 2004
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
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