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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

Overview of attention for article published in Orphanet Journal of Rare Diseases, January 2014
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (77th percentile)
  • Good Attention Score compared to outputs of the same age and source (68th percentile)

Mentioned by

twitter
4 tweeters
wikipedia
2 Wikipedia pages

Citations

dimensions_citation
34 Dimensions

Readers on

mendeley
37 Mendeley
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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, January 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.

Twitter Demographics

The data shown below were collected from the profiles of 4 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 37 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 37 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 7 19%
Student > Master 7 19%
Researcher 6 16%
Student > Ph. D. Student 4 11%
Student > Doctoral Student 2 5%
Other 8 22%
Unknown 3 8%
Readers by discipline Count As %
Medicine and Dentistry 9 24%
Agricultural and Biological Sciences 6 16%
Biochemistry, Genetics and Molecular Biology 6 16%
Neuroscience 5 14%
Nursing and Health Professions 4 11%
Other 3 8%
Unknown 4 11%

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 10 March 2017.
All research outputs
#3,344,439
of 13,559,870 outputs
Outputs from Orphanet Journal of Rare Diseases
#410
of 1,495 outputs
Outputs of similar age
#54,955
of 250,309 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#15
of 48 outputs
Altmetric has tracked 13,559,870 research outputs across all sources so far. Compared to these this one has done well and is in the 75th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,495 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.1. This one has gotten more attention than average, scoring higher than 71% 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 250,309 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 77% of its contemporaries.
We're also able to compare this research output to 48 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 68% of its contemporaries.