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
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
Myasthenic syndromes: mistaking genetic for acquired.
Henehan L et al.
Practical Neurology, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Congenital Myasthenic Syndrome With Adult Onset Due to the Novel Heterozygous c.1399_1404del Variant in the Downstream of Tyrosine Kinase-7 (DOK7): A Case Report.
Finsterer J
Cureus, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Dose escalation pre-clinical trial of novel DOK7-AAV in mouse model of DOK7 congenital myasthenia.
Cossins J et al.
Brain Communications, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
Emphasizing the need for preconceptional, prenatal genetic counseling and comprehensive genetic testing in consanguinity: challenges and experience.
Pande S et al.
Molecular Genetics and Genomics : Mgg, 2024
Congenital myasthenic syndromes: increasingly complex.
Ramdas S et al.
Current Opinion in 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
Dose escalation pre-clinical trial of novel DOK7-AAV in mouse model of DOK7 congenital myasthenia.
Cossins J et al.
Biorxiv : the Preprint Server for Biology, 2024
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K et al.
Brain : a Journal of Neurology, 2024
260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Hoofddorp, The Netherlands.
Spendiff S et al.
Neuromuscular Disorders : Nmd, 2023
Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.
Muñoz-García MI et al.
Journal of Clinical Medicine, 2023
When Breathing Becomes a Challenge: A Case of Congenital Myasthenia Gravis in an Indian Neonate With a DOK-7 Gene Mutation.
Mendpara V et al.
Cureus, 2023
A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells.
Zhang S et al.
Human Molecular Genetics, 2023
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Ohno K et al.
International Journal of Molecular Sciences, 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
Control of CRK-RAC1 activity by the miR-1/206/133 miRNA family is essential for neuromuscular junction function.
Klockner I et al.
Nature Communications, 2022
Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.
Estephan EP et al.
European Journal of Neurology, 2022
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
Mechanism of disease and therapeutic rescue of Dok7 congenital myasthenia.
Oury J et al.
Nature, 2021
Diagnosis of DOK7 congenital myasthenic syndrome during pregnancy: A case report and literature review.
Fernandes M et al.
Clinical Neurology and Neurosurgery, 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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness.
Lorenzoni PJ et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2020
Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence.
Radhakrishnan P et al.
American Journal of Medical Genetics. Part A, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.
Bryen SJ et al.
American Journal of Human Genetics, 2019
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
Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.
Truty R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018