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Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts

Overview of attention for article published in Orphanet Journal of Rare Diseases, April 2014
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  • Good Attention Score compared to outputs of the same age (68th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (55th percentile)

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1 X user
wikipedia
1 Wikipedia page

Citations

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55 Dimensions

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48 Mendeley
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Title
Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts
Published in
Orphanet Journal of Rare Diseases, April 2014
DOI 10.1186/1750-1172-9-57
Pubmed ID
Authors

Matthis Synofzik, Rebecca Schüle, Martin Schulze, Janina Gburek-Augustat, Roland Schweizer, Anja Schirmacher, Ingeborg Krägeloh-Mann, Michael Gonzalez, Peter Young, Stephan Züchner, Ludger Schöls, Peter Bauer

Abstract

Mutations in the gene STUB1, encoding the protein CHIP (C-terminus of HSC70-interacting protein), have recently been suggested as a cause of recessive ataxia based on the findings in few Chinese families. Here we aimed to investigate the phenotypic and genotypic spectrum of STUB1 mutations, and to assess their frequency in different Caucasian disease cohorts.

X Demographics

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.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 48 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 2 4%
Spain 1 2%
Unknown 45 94%

Demographic breakdown

Readers by professional status Count As %
Researcher 10 21%
Student > Ph. D. Student 9 19%
Student > Doctoral Student 6 13%
Other 3 6%
Student > Bachelor 2 4%
Other 9 19%
Unknown 9 19%
Readers by discipline Count As %
Medicine and Dentistry 15 31%
Neuroscience 7 15%
Biochemistry, Genetics and Molecular Biology 5 10%
Agricultural and Biological Sciences 4 8%
Social Sciences 3 6%
Other 5 10%
Unknown 9 19%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 29 April 2014.
All research outputs
#7,960,512
of 25,374,647 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,134
of 3,105 outputs
Outputs of similar age
#71,968
of 238,626 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#19
of 43 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. This one has received more attention than most of these and is in the 67th 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 61% 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 238,626 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 68% 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 55% of its contemporaries.