ReviewAnnals of the New York Academy of Sciences2012
New horizons for congenital myasthenic syndromes.
Review in Annals of the New York Academy of Sciences, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 10 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
10 citing papers in PubMed, 28 citations in OpenAlex.
- Expression assay of theClinical case reports · 2023Article
- Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.Neurology · 2017Article
- Chaperone-Mediated Regulation of Choline Acetyltransferase Protein Stability and Activity by HSC/HSP70, HSP90, and p97/VCP.Frontiers in molecular neuroscience · 2017Article
- COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy.Animal genetics · 2015Article
- Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.Human mutation · 2015Article
- Acetylcholine ameliorates endoplasmic reticulum stress in endothelial cells after hypoxia/reoxygenation via M3 AChR-AMPK signaling.Cell cycle (Georgetown, Tex.) · 2015Article
- Neurological aspects of human glycosylation disorders.Annual review of neuroscience · 2015Review
- A single mutation in the acetylcholine receptor δ-subunit causes distinct effects in two types of neuromuscular synapses.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2014Article
- Article
- Solving glycosylation disorders: fundamental approaches reveal complicated pathways.American journal of human genetics · 2014Review
Corrections and comments
- Erratum issued
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
During the past five years an increasing number of patients have been diagnosed with congenital myasthenic syndromes (CMS) and a number of novel syndromes have been recognized and investigated. This presentation focuses on the CMS caused by defects in choline acetyltransferase, novel fast-channel syndromes that hinder isomerization of the acetylcholine receptor from the closed to the open state, the consequences of deleterious mutations in the intermediate filament linker plectin, altered neuromuscular transmission in a centronuclear myopathy, and two recently identified CMS caused by congenital defects in glycosylation.
Indexed as
Identifiers
What 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.