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The genetics of amyotrophic lateral sclerosis: current insights

Overview of attention for article published in Degenerative Neurological and Neuromuscular Disease, May 2016
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (82nd percentile)

Mentioned by

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12 X users
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1 Wikipedia page

Citations

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92 Dimensions

Readers on

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231 Mendeley
Title
The genetics of amyotrophic lateral sclerosis: current insights
Published in
Degenerative Neurological and Neuromuscular Disease, May 2016
DOI 10.2147/dnnd.s84956
Pubmed ID
Authors

Afnan A Alsultan, Rachel Waller, Paul R Heath, Janine Kirby

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder that results in loss of the upper and lower motor neurons from motor cortex, brainstem, and spinal cord. While the majority of cases are sporadic, approximately 10% show familial inheritance. ALS is usually inherited in an autosomal dominant manner, although autosomal recessive and X-linked inheritance do occur. To date, 24 of the genes at 26 loci have been identified; these include loci linked to ALS and to frontotemporal dementia-ALS, where family pedigrees contain individuals with frontotemporal dementia with/without ALS. The most commonly established genetic causes of familial ALS (FALS) to date are the presence of a hexanucleotide repeat expansion in the C9ORF72 gene (39.3% FALS) and mutation of SOD1, TARDBP, and FUS, with frequencies of 12%-23.5%, 5%, and 4.1%, respectively. However, with the increasing use of next-generation sequencing of small family pedigrees, this has led to an increasing number of genes being associated with ALS. This review provides a comprehensive review on the genetics of ALS and an update of the pathogenic mechanisms associated with these genes. Commonly implicated pathways have been established, including RNA processing, the protein degradation pathways of autophagy and ubiquitin-proteasome system, as well as protein trafficking and cytoskeletal function. Elucidating the role genetics plays in both FALS and sporadic ALS is essential for understanding the subsequent cellular dysregulation that leads to motor neuron loss, in order to develop future effective therapeutic strategies.

X Demographics

X Demographics

The data shown below were collected from the profiles of 12 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 231 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Korea, Republic of 1 <1%
Unknown 230 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 47 20%
Student > Bachelor 32 14%
Student > Master 28 12%
Researcher 12 5%
Student > Doctoral Student 11 5%
Other 14 6%
Unknown 87 38%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 42 18%
Neuroscience 42 18%
Medicine and Dentistry 18 8%
Agricultural and Biological Sciences 13 6%
Chemistry 7 3%
Other 13 6%
Unknown 96 42%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 10. 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 27 August 2023.
All research outputs
#3,328,350
of 24,336,902 outputs
Outputs from Degenerative Neurological and Neuromuscular Disease
#18
of 86 outputs
Outputs of similar age
#51,850
of 302,852 outputs
Outputs of similar age from Degenerative Neurological and Neuromuscular Disease
#1
of 4 outputs
Altmetric has tracked 24,336,902 research outputs across all sources so far. Compared to these this one has done well and is in the 86th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 86 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 10.9. This one has done well, scoring higher than 80% 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 302,852 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 82% of its contemporaries.
We're also able to compare this research output to 4 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them