ReviewFrontiers in neurology2019
The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms.
Review in Frontiers in neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed, 17 citations in OpenAlex.
- Presynaptic Congenital Myasthenic Syndromes.Muscle & nerve · 2026Review
- TUBA4A Pathogenic Variant Manifesting With Adulthood-Onset Genetic Myasthenic Syndrome, Myopathy, and Infertility.European journal of neurology · 2026Article
- Pragmatic Phenotype-Electrophysiology-Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single-Center Study in China.CNS neuroscience & therapeutics · 2026Article
- Review
- Clarifications to "Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation": the usefulness of single-fiber electromyography (SFEMG).Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- A CommonJournal of pediatric genetics · 2024Article
- Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.International journal of molecular sciences · 2023Review
- Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants inCells · 2021Article
- The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies.Current opinion in neurology · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital myasthenic syndromes (CMS) are a group of inherited disorders of neuromuscular transmission most commonly presenting with early onset fatigable weakness, ptosis, and ophthalmoparesis. CMS are classified according to the localization of the causative molecular defect. CMS with presynaptic dysfunction can be caused by mutations in several different genes, including those involved in acetylcholine synthesis, its packaging into synaptic vesicles, vesicle docking, and release from the presynaptic nerve terminal and neuromuscular junction development and maintenance. Electrodiagnostic testing is key in distinguishing CMS from other neuromuscular disorders with similar clinical features as well as for revealing features pointing to a specific molecular diagnosis. A decremental response on low-frequency repetitive nerve stimulation (RNS) is present in most presynaptic CMS. In CMS with deficits in acetylcholine resynthesis however, a decrement may only appear after conditioning with exercise or high-frequency RNS and characteristically displays a slow recovery. Facilitation occurs in CMS caused by mutations in
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.