Associated Papers
Prevalence and Geographical Distribution of Patients With Congenital Myasthenic Syndromes in the United Kingdom.
Rossini E et al.
Muscle & Nerve, 2026
Congenital Myasthenic Syndrome: Long-Term Outcomes up to 60 Years, Molecular Characterization, and Eight Novel Variants.
Akçay AA et al.
Clinical Genetics, 2025
Myasthenic syndromes: mistaking genetic for acquired.
Henehan L et al.
Practical Neurology, 2025
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
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
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K et al.
Brain : a Journal of Neurology, 2024
Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.
Muñoz-García MI et al.
Journal of Clinical Medicine, 2023
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
Krenn M et al.
Journal of Neurology, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Grunseich C et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia.
Webster RG et al.
Human Molecular Genetics, 2020
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L et al.
Genes, 2020
Phenotypic Differences in 2 Unrelated Cases Carrying Identical DOK7 Mutations.
Bissay V et al.
Journal of Clinical Neuromuscular Disease, 2019
[Congenital myasthenic syndromes in adulthood : Challenging, rare but treatable].
Wunderlich G et al.
Der Nervenarzt, 2019
Delayed diagnosis of DOK7 congenital myasthenic syndrome: Case report and literature review.
Johnson A et al.
Neurology. Clinical Practice, 2018
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
Molecular characterization of congenital myasthenic syndromes in Spain.
Natera-de Benito D et al.
Neuromuscular Disorders : Nmd, 2017
Familial Dok7 congenital myasthenic syndrome responsive to salbutamol.
Maramattom BV et al.
Neurology India, 0