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A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance

Overview of attention for article published in BMC Neurology, June 2014
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39 Mendeley
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Title
A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance
Published in
BMC Neurology, June 2014
DOI 10.1186/1471-2377-14-118
Pubmed ID
Authors

Maik Engeholm, Julia Sekler, David C Schöndorf, Vineet Arora, Jens Schittenhelm, Saskia Biskup, Caroline Schell, Thomas Gasser

Abstract

Charcot-Marie-Tooth disease (CMT) refers to a heterogeneous group of genetic motor and sensory neuropathies. According to the primary site of damage, a distinction is made between demyelinating and axonal forms (CMT1 and 2, respectively, when inherited as an autosomal dominant trait). Leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) is a ubiquitin-protein ligase with a role in sorting internalised cell-surface receptor proteins. So far, mutations in the LRSAM1 gene have been shown to cause axonal CMT in three different families and can confer either dominant or recessive transmission of the disease.

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

Geographical breakdown

Country Count As %
Unknown 39 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 8 21%
Other 7 18%
Researcher 6 15%
Student > Bachelor 4 10%
Student > Doctoral Student 2 5%
Other 8 21%
Unknown 4 10%
Readers by discipline Count As %
Agricultural and Biological Sciences 7 18%
Biochemistry, Genetics and Molecular Biology 7 18%
Medicine and Dentistry 5 13%
Neuroscience 4 10%
Nursing and Health Professions 3 8%
Other 5 13%
Unknown 8 21%
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 17 January 2015.
All research outputs
#14,781,203
of 22,756,196 outputs
Outputs from BMC Neurology
#1,353
of 2,427 outputs
Outputs of similar age
#127,221
of 227,901 outputs
Outputs of similar age from BMC Neurology
#29
of 58 outputs
Altmetric has tracked 22,756,196 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 2,427 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.7. This one is in the 39th percentile – i.e., 39% 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 227,901 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 41st percentile – i.e., 41% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 58 others from the same source and published within six weeks on either side of this one. This one is in the 46th percentile – i.e., 46% of its contemporaries scored the same or lower than it.