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
36703579 (PubMed )
Supplement: CN-21-1594_SD1.pdf
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
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
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
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