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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Large exonic deletions in POLRB gene cause POLR3-related leukodystrophy
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, June 2015
|
| DOI | 10.1186/s13023-015-0279-9 |
| Pubmed ID | |
| Authors |
Mariana Gutierrez, Isabelle Thiffault, Kether Guerrero, Gabriel Á. Martos-Moreno, Luan T. Tran, William Benko, Marjo S. van der Knaap, Rosalina M. L. van Spaendonk, Nicole I. Wolf, Geneviève Bernard |
| Abstract |
POLR3-related (or 4H) leukodystrophy is an autosomal recessive disorder caused by mutations in POLR3A or POLR3B and is characterized by neurological and non-neurological features. In a small proportion of patients, no mutation in either gene or only one mutation is found. Analysis of the POLR3B cDNA revealed a large deletion of exons 21-22 in one case and of exons 26-27 in another case. These are the first reports of long deletions causing POLR3-related leukodystrophy, suggesting that deletions and duplications in POLR3A or POLR3B should be investigated in patients with a compatible phenotype, especially if one pathogenic variant has been identified. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 24 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 24 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 5 | 21% |
| Researcher | 4 | 17% |
| Student > Ph. D. Student | 4 | 17% |
| Student > Doctoral Student | 2 | 8% |
| Student > Bachelor | 2 | 8% |
| Other | 4 | 17% |
| Unknown | 3 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 8 | 33% |
| Medicine and Dentistry | 5 | 21% |
| Neuroscience | 5 | 21% |
| Agricultural and Biological Sciences | 2 | 8% |
| Unknown | 4 | 17% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 06 June 2015.
All research outputs
#15,334,706
of 22,808,725 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,793
of 2,615 outputs
Outputs of similar age
#156,782
of 266,891 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#27
of 40 outputs
Altmetric has tracked 22,808,725 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,615 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one is in the 23rd percentile – i.e., 23% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 266,891 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 32nd percentile – i.e., 32% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 40 others from the same source and published within six weeks on either side of this one. This one is in the 25th percentile – i.e., 25% of its contemporaries scored the same or lower than it.