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A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

Overview of attention for article published in BMC Medical Genomics, September 2012
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3 X users

Citations

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28 Dimensions

Readers on

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43 Mendeley
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Title
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion
Published in
BMC Medical Genomics, September 2012
DOI 10.1186/1471-2350-13-80
Pubmed ID
Authors

Bassam R Ali, Jennifer L Silhavy, Matthew J Gleeson, Joseph G Gleeson, Lihadh Al-Gazali

Abstract

Dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation. The condition has been classified into cerebellar ataxia, mental retardation and disequilibrium syndrome types 1 (CAMRQ1), 2 (CAMRQ2) and 3 (CAMRQ3) and attributed to mutations in VLDLR, CA8 and WDR81 genes, respectively. Quadrupedal locomotion in this syndrome has been reported in association with mutations in all three genes.

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 43 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Italy 1 2%
Unknown 42 98%

Demographic breakdown

Readers by professional status Count As %
Researcher 8 19%
Student > Ph. D. Student 5 12%
Student > Master 5 12%
Student > Doctoral Student 3 7%
Student > Postgraduate 3 7%
Other 8 19%
Unknown 11 26%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 9 21%
Medicine and Dentistry 7 16%
Neuroscience 4 9%
Agricultural and Biological Sciences 3 7%
Veterinary Science and Veterinary Medicine 2 5%
Other 6 14%
Unknown 12 28%
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 13 September 2012.
All research outputs
#16,048,009
of 25,374,647 outputs
Outputs from BMC Medical Genomics
#1,102
of 2,444 outputs
Outputs of similar age
#114,888
of 187,435 outputs
Outputs of similar age from BMC Medical Genomics
#16
of 34 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. This one is in the 34th percentile – i.e., 34% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one has gotten more attention than average, scoring higher than 51% 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 187,435 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 36th percentile – i.e., 36% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 34 others from the same source and published within six weeks on either side of this one. This one is in the 32nd percentile – i.e., 32% of its contemporaries scored the same or lower than it.