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X Demographics
Mendeley readers
Attention Score in Context
| Title |
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, February 2014
|
| DOI | 10.1186/1750-1172-9-24 |
| Pubmed ID | |
| Authors |
Matthis Synofzik, Jennifer Müller vom Hagen, Tobias B Haack, Christian Wilhelm, Tobias Lindig, Stefanie Beck-Wödl, Sander B Nabuurs, André BP van Kuilenburg, Arjan PM de Brouwer, Ludger Schöls |
| Abstract |
X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2) are allelic syndromes, caused by reduced activity of phosphoribosylpyrophosphate synthetase 1 (PRS-I) due to loss-of-function mutations in PRPS1. As only few families have been described, knowledge about the relation between these syndromes, the phenotypic spectrum in patients and female carriers, and the relation to underlying PRS-I activity is limited. |
X Demographics
The data shown below were collected from the profiles of 3 X users 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 | 33% |
| Unknown | 2 | 67% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Scientists | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 46 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 46 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 7 | 15% |
| Researcher | 6 | 13% |
| Student > Bachelor | 6 | 13% |
| Student > Ph. D. Student | 5 | 11% |
| Unspecified | 4 | 9% |
| Other | 10 | 22% |
| Unknown | 8 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 8 | 17% |
| Medicine and Dentistry | 8 | 17% |
| Agricultural and Biological Sciences | 6 | 13% |
| Neuroscience | 5 | 11% |
| Nursing and Health Professions | 4 | 9% |
| Other | 6 | 13% |
| Unknown | 9 | 20% |
Attention Score in Context
This research output has an Altmetric Attention Score of 5. 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 17 October 2019.
All research outputs
#7,204,882
of 25,373,627 outputs
Outputs from Orphanet Journal of Rare Diseases
#986
of 3,105 outputs
Outputs of similar age
#81,642
of 330,518 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#17
of 43 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. This one has received more attention than most of these and is in the 71st percentile.
So far Altmetric has tracked 3,105 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.2. This one has gotten more attention than average, scoring higher than 67% of its peers.
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 330,518 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 74% of its contemporaries.
We're also able to compare this research output to 43 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 60% of its contemporaries.