ArticleNeurology2013
The importance of rare DNA variation in neurologic disease: cautionary tale.
Article in Neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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.
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Who cites it
1 citing paper in PubMed, 4 citations in OpenAlex.
- Screening of mutations in NOL3 in a myoclonic syndromes series.Journal of neurology · 2014Article
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurology has been one of the leaders in applying the developing tools of genetics to understand the etiology of disease. This extends as far back as the early 1980s, when the then-new methods of detecting DNA variation (restriction fragment length polymorphisms) were combined with relatively new analytical methods (linkage analysis) to identify the location of the Huntington disease gene,(1) Alzheimer disease genes,(2) and a Parkinson disease (PD) gene.(3) Extremely rare highly penetrant mutations in these genes are causative for disease. These discoveries redirected entire fields of study and greatly improved our understanding of the underlying pathophysiology. However, they directly explain just a tiny portion of the genetic causes of their disease.
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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.