ReviewOrphanet journal of rare diseases2018
Naxos disease: from the origin to today.
Review in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 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
3 citing papers in PubMed, 22 citations in OpenAlex.
- Emerging concepts in arrhythmogenic dilated cardiomyopathy.Heart failure reviews · 2021Review
- Monozygotic twins with myocarditis and a novel likely pathogenic desmoplakin gene variant.ESC heart failure · 2020Article
- Naxos Disease: The Model for Scientific Discovery.International journal of trichologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Naxos disease, first described by Dr. Nikos Protonotarios and colleagues on the island of Naxos, Greece, is a special form of arrhythmogenic right ventricular dysplasia (ARVD). It is an inherited condition with a recessive form of transmission and a familial penetrance of 90%. It is associated with thickening of the skin of the hands and sole, and a propensity to woolly hair. The cardiac anomalies characterized by ventricular arrhythmias with ventricular extrasystoles and tachycardia and histologic features of the myocardium are consistent with ARVD, but in a more severe form of dysplasia with major dilatation of the right ventricle. The identification of the responsible first gene on chromosome 17, and its product plakoglobin as the responsible protein for Naxos disease proved to be a milestone in the study of ARVD, which opened a new field of research. Thanks to those with the determination to discover Naxos disease, there is and will be more clarity in understanding the mechanisms of juvenile sudden death in the young who have an apparently otherwise normal heart.
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.