Associated Papers
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
First characterization of congenital myasthenic syndrome type 5 in North Africa.
Khaoula R et al.
Molecular Biology Reports, 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
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.
Aharoni S et al.
Neuromuscular Disorders : Nmd, 2017
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.
Matlik HN et al.
Pediatric Neurology, 2014
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
Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol.
Chan SH et al.
Pediatric Neurology, 2012
Recurrent COLQ mutation in congenital myasthenic syndrome.
Guven A et al.
Pediatric Neurology, 2012
Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations.
Yeung WL et al.
Developmental Medicine and Child Neurology, 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
Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.
Shapira YA et al.
Neurology, 2002
Congenital myasthenic syndromes: genetic defects of the neuromuscular junction.
Ohno K et al.
Current Neurology and Neuroscience Reports, 2002
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