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Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

Overview of attention for article published in Neurobiology of Aging, August 2014
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  • Good Attention Score compared to outputs of the same age (73rd percentile)
  • Good Attention Score compared to outputs of the same age and source (69th percentile)

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Title
Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion
Published in
Neurobiology of Aging, August 2014
DOI 10.1016/j.neurobiolaging.2014.07.037
Pubmed ID
Authors

Pietro Fratta, James M. Polke, Jia Newcombe, Sarah Mizielinska, Tammaryn Lashley, Mark Poulter, Jon Beck, Elisavet Preza, Anny Devoy, Katie Sidle, Robin Howard, Andrea Malaspina, Richard W. Orrell, Jan Clarke, Ching-Hua Lu, Kin Mok, Toby Collins, Maryam Shoaii, Tina Nanji, Selina Wray, Gary Adamson, Alan Pittman, Alan E. Renton, Bryan J. Traynor, Mary G. Sweeney, Tamas Revesz, Henry Houlden, Simon Mead, Adrian M. Isaacs, Elizabeth M.C. Fisher

Abstract

An expanded hexanucleotide repeat in the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). Although 0-30 hexanucleotide repeats are present in the general population, expansions >500 repeats are associated with C9ALS/FTD. Large C9ALS/FTD expansions share a common haplotype and whether these expansions derive from a single founder or occur more frequently on a predisposing haplotype is yet to be determined and is relevant to disease pathomechanisms. Furthermore, although cases carrying 50-200 repeats have been described, their role and the pathogenic threshold of the expansions remain to be identified and carry importance for diagnostics and genetic counseling. We present clinical and genetic data from a UK ALS cohort and report the detailed molecular study of an atypical somatically unstable expansion of 90 repeats. Our results across different tissues provide evidence for the pathogenicity of this repeat number by showing they can somatically expand in the central nervous system to the well characterized pathogenic range. Our results support the occurrence of multiple expansion events for C9ALS/FTD.

X Demographics

X Demographics

The data shown below were collected from the profiles of 6 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 109 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 2 2%
Colombia 1 <1%
Unknown 106 97%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 39 36%
Student > Bachelor 12 11%
Student > Master 8 7%
Researcher 7 6%
Student > Doctoral Student 5 5%
Other 21 19%
Unknown 17 16%
Readers by discipline Count As %
Agricultural and Biological Sciences 24 22%
Neuroscience 22 20%
Biochemistry, Genetics and Molecular Biology 18 17%
Medicine and Dentistry 10 9%
Nursing and Health Professions 4 4%
Other 11 10%
Unknown 20 18%
Attention Score in Context

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 22 September 2015.
All research outputs
#7,148,499
of 25,373,627 outputs
Outputs from Neurobiology of Aging
#2,357
of 4,418 outputs
Outputs of similar age
#63,096
of 240,206 outputs
Outputs of similar age from Neurobiology of Aging
#27
of 88 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 4,418 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 10.6. This one is in the 46th percentile – i.e., 46% 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 240,206 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 73% of its contemporaries.
We're also able to compare this research output to 88 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 69% of its contemporaries.