Associated Papers
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series.
Murtazina A et al.
Frontiers in Pediatrics, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.
Yildiz EP et al.
Acta Neurologica Belgica, 2023
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.
Pugliese A et al.
Journal of Neuromuscular Diseases, 2023
Clinical and Genetic Features of Congenital Myasthenic Syndromes due to CHAT Mutations: Case Report and Literature Review.
Arican P et al.
Neuropediatrics, 2018
Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.
Durmus H et al.
Neuromuscular Disorders : Nmd, 2018
[Clinical and genetic characteristics of congenital myasthenia syndrome with episodic apnea caused by CHAT gene mutation: a report of 2 cases].
Liu ZM et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2018
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 in patients with congenital myasthenic syndrome due to CHAT mutations.
Schara U et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2010
What have we learned from the congenital myasthenic syndromes.
Engel AG et al.
Journal of Molecular Neuroscience : Mn, 2010
Temporary diazepam responsive apneic attacks and congenital myasthenic syndrome.
Yis U et al.
Journal of Child Neurology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Current understanding of congenital myasthenic syndromes.
Engel AG et al.
Current Opinion in Pharmacology, 2005
Choline acetyltransferase structure reveals distribution of mutations that cause motor disorders.
Cai Y et al.
The Embo Journal, 2004
Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.
Kraner S et al.
Archives of Neurology, 2003
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase.
Schmidt C et al.
Neuromuscular Disorders : Nmd, 2003
Dentatorubral pallidoluysian atrophy in a Turkish family.
Yiş U et al.
The Turkish Journal of Pediatrics, 0