Associated Papers
Congenital Myasthenic Syndrome: Long-Term Outcomes up to 60 Years, Molecular Characterization, and Eight Novel Variants.
Akçay AA et al.
Clinical Genetics, 2025
Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.
Özsoy Ö et al.
Acta Neurologica Belgica, 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
First characterization of congenital myasthenic syndrome type 5 in North Africa.
Khaoula R et al.
Molecular Biology Reports, 2021
Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients.
Gül Mert G et al.
Acta Neurologica Belgica, 2021
The Results of Whole Exome Sequencing Performed On Previously Undiagnosed Pediatric Neurology Patients.
Ahmadnia N et al.
Iranian Journal of Child Neurology, 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
Cardiac autonomic function evaluation in pediatric and adult patients with congenital myasthenic syndromes.
Günbey C et al.
Neuromuscular Disorders : Nmd, 2019
Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.
Durmus H et al.
Neuromuscular Disorders : Nmd, 2018
Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.
Wargon I et al.
Neuromuscular Disorders : Nmd, 2012
Recurrent COLQ mutation in congenital myasthenic syndrome.
Guven A et al.
Pediatric Neurology, 2012
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
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
Congenital myasthenic syndromes: A diverse array of molecular targets.
Engel AG et al.
Journal of Neurocytology, 0