ReviewCurrent neurology and neuroscience reports2018
Congenital Myasthenic Syndromes in 2018.
Review in Current neurology and neuroscience reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Congenital myasthenic syndromes.Orphanet journal of rare diseases · 2019Pooled it
- SLC52A3-Related Riboflavin Transporter Deficiency in Two Saudi Siblings: A Case Report.Cureus · 2026Article
- Postsynaptic Congenital Myasthenic Syndrome Mimicking Limb-Girdle Muscular Dystrophy Associated with an Alternatively Spliced Exon in CHRNB1: A Case Report and Literature Review.Children (Basel, Switzerland) · 2026Article
- GFPT1-related congenital myasthenic syndrome misdiagnosed as myopathy: clinical and genetic insights.Acta neurologica Belgica · 2025Article
- A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant.Orphanet journal of rare diseases · 2025Article
- Article
- Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic Syndromes.Biomedicines · 2024Article
- Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.Brain : a journal of neurology · 2024Article
- Innovative Therapeutic Approaches in Congenital Myasthenic Syndromes.Neurology. Clinical practice · 2024Article
- Effective treatment with oral Salbutamol on late onset respiratory impairment in a DOK7 Congenital Myasthenia Syndrome: a case report.Multidisciplinary respiratory medicine · 2024Article
- Building, Breaking, and Repairing Neuromuscular Synapses.Cold Spring Harbor perspectives in biology · 2024Review
- Guideline for the management of myasthenic syndromes.Therapeutic advances in neurological disorders · 2023Review
- From 2D to 3D Co-Culture Systems: A Review of Co-Culture Models to Study the Neural Cells Interaction.International journal of molecular sciences · 2022Review
- Clinicopathological-genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre.Journal of cellular and molecular medicine · 2022Article
- Review
- Effects of Natural Products on Neuromuscular Junction.Current neuropharmacology · 2022Review
- Abnormal decrement on high-frequency repetitive nerve stimulation in congenital myasthenic syndrome with GFPT1 mutations and review of literature.Frontiers in neurology · 2022Article
- An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.Biomolecules · 2021Review
- First characterization of congenital myasthenic syndrome type 5 in North Africa.Molecular biology reports · 2021Article
- Novel compound heterozygous variants in the GFPT1 gene leading to rare limb-girdle congenital myasthenic syndrome with rimmed vacuoles.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose of reviewSummarize features of the currently recognized congenital myasthenic syndromes (CMS) with emphasis on novel findings identified in the past 6 years. RECENT
findingsSince the last review of the CMS in this journal in 2012, several novel CMS were identified. The identified disease proteins are SNAP25B, synaptotagmin 2, Munc13-1, synaptobrevin-1, GFPT1, DPAGT1, ALG2, ALG14, Agrin, GMPPB, LRP4, myosin 9A, collagen 13A1, the mitochondrial citrate carrier, PREPL, LAMA5, the vesicular ACh transporter, and the high-affinity presynaptic choline transporter. Exome sequencing has provided a powerful tool for identifying novel CMS. Identifying the disease genes is essential for determining optimal therapy. The landscape of the CMS is still unfolding.
Indexed as
Identifiers
29892917What OpenQuestion holds
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.