Associated Papers
DOK7 congenital myasthenic syndrome: case series and review of literature.
Ziaadini B et al.
Bmc Neurology, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8
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
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.
Guo Y et al.
Neuromuscular Disorders : Nmd, 2015
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Cossins J et al.
Human Molecular Genetics, 2012
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