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STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity

Overview of attention for article published in Orphanet Journal of Rare Diseases, September 2014
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Citations

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Title
STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Published in
Orphanet Journal of Rare Diseases, September 2014
DOI 10.1186/s13023-014-0146-0
Pubmed ID
Authors

Ketil Heimdal, Monica Sanchez-Guixé, Ingvild Aukrust, Jens Bollerslev, Ove Bruland, Greg Eigner Jablonski, Anne Kjersti Erichsen, Einar Gude, Jeanette A Koht, Sigrid Erdal, Torunn Fiskerstrand, Bjørn Ivar Haukanes, Helge Boman, Lise Bjørkhaug, Chantal ME Tallaksen, Per M Knappskog, Stefan Johansson

Abstract

A subset of hereditary cerebellar ataxias is inherited as autosomal recessive traits (ARCAs). Classification of recessive ataxias due to phenotypic differences in the cerebellum and cerebellar structures is constantly evolving due to new identified disease genes. Recently, reports have linked mutations in genes involved in ubiquitination (RNF216, OTUD4, STUB1) to ARCA with hypogonadism.

X Demographics

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.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 56 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 2%
Spain 1 2%
United States 1 2%
Unknown 53 95%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 11 20%
Researcher 8 14%
Student > Bachelor 7 13%
Other 7 13%
Student > Doctoral Student 4 7%
Other 8 14%
Unknown 11 20%
Readers by discipline Count As %
Medicine and Dentistry 13 23%
Biochemistry, Genetics and Molecular Biology 10 18%
Neuroscience 6 11%
Agricultural and Biological Sciences 5 9%
Nursing and Health Professions 4 7%
Other 7 13%
Unknown 11 20%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 28 September 2014.
All research outputs
#14,786,093
of 22,764,165 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,694
of 2,611 outputs
Outputs of similar age
#139,090
of 252,277 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#25
of 36 outputs
Altmetric has tracked 22,764,165 research outputs across all sources so far. This one is in the 32nd percentile – i.e., 32% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,611 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 31st percentile – i.e., 31% 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 252,277 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 42nd percentile – i.e., 42% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 36 others from the same source and published within six weeks on either side of this one. This one is in the 27th percentile – i.e., 27% of its contemporaries scored the same or lower than it.