Associated Papers
Prevalence and Geographical Distribution of Patients With Congenital Myasthenic Syndromes in the United Kingdom.
Rossini E et al.
Muscle & Nerve, 2026
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
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
Krenn M et al.
Journal of Neuromuscular Diseases, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
Volpi J et al.
European Journal of Human Genetics : Ejhg, 2025
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position.
Keehan L et al.
Case Reports in Genetics, 2025
Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndrome.
Ghasemi A et al.
Neurogenetics, 2024
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literature.
Batheja A et al.
Ophthalmic Genetics, 2024
Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.
Feng M et al.
Nature Communications, 2024
RAPSYN-mediated neddylation of BCR-ABL alternatively determines the fate of Philadelphia chromosome-positive leukemia.
Zhao M et al.
Elife, 2024
Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN.
Zhang Z et al.
Molecular Genetics & 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
The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.
Liao X et al.
Biomolecules & Biomedicine, 2023
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.
Tilemis FN et al.
Genes, 2023
Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.
Muñoz-García MI et al.
Journal of Clinical Medicine, 2023
From phosphorylation to phenotype - Recent key findings on kinase regulation, downstream signaling and disease surrounding the receptor tyrosine kinase MuSK.
Prömer J et al.
Cellular Signalling, 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
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
Krenn M et al.
Journal of Neurology, 2023
Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11.
Kramer JJ et al.
Journal of Neuromuscular Diseases, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing.
Mezreani J et al.
Npj Genomic Medicine, 2022
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S et al.
Journal of Clinical Medicine, 2022
Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.
Estephan EP et al.
European Journal of Neurology, 2022
Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation.
Xing G et al.
Neuron, 2021
Generation and characterization of an induced pluripotent stem cell line SDQLCHi018-A from a congenital myasthenic syndrome patient carrying compound heterozygote mutations in RAPSN gene.
Zhang H et al.
Stem Cell Research, 2021
Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT.
Zhuo X et al.
Plos One, 2021
Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
Babić Božović I et al.
Plos One, 2021
Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.
Jiang X et al.
Journal of the American Heart Association, 2020
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
Rapsyn as a signaling and scaffolding molecule in neuromuscular junction formation and maintenance.
Xing G et al.
Neuroscience Letters, 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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome.
Xing G et al.
Elife, 2019
Congenital myasthenic syndrome due to rapsyn deficiency: A case report with a new mutation and compound heterozygosity.
Espinoza IO et al.
Medwave, 2019
Congenital myasthenic syndromes.
Finsterer J
Orphanet Journal of Rare Diseases, 2019
No Hot Spot Mutations CHRNE c.1327 delG, CHAT c.914T>C, and RAPSN c.264C>A in Iranian Patients with Congenital Myasthenic Syndrome.
Parvizi Omran S et al.
Iranian Journal of Child Neurology, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil.
Estephan EP et al.
Neuromuscular Disorders : Nmd, 2018
Unique presentation of rapidly fluctuating symptoms in a child with congenital myasthenic syndrome due to RAPSN mutation.
Kumar A et al.
Muscle & Nerve, 2018
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Congenital Myasthenic Syndromes in 2018.
Engel AG
Current Neurology and Neuroscience Reports, 2018
The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
Rodríguez Cruz PM et al.
International Journal of Molecular Sciences, 2018