Charcot-Marie-Tooth (CMT) disease is a genetically heterogeneous condition with >50 genes now being identified. Thanks to new technological developments, namely, exome sequencing, the ability to identify additional rare genes in CMT has been drastically improved. Here we present data suggesting that MARS is a very rare novel cause of late-onset CMT2. This is supported by strong functional and evolutionary evidence, yet the absence of additional unrelated cases warrant future studies to substantiate this conclusion.
This research output has an Altmetric Attention Score of 8. 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 23 January 2019.
All research outputs
#6,451,039
of 34,360,889 outputs
Outputs from Journal of neurology, neurosurgery and psychiatry
#2,847
of 8,758 outputs
Outputs of similar age
#46,709
of 240,347 outputs
Outputs of similar age from Journal of neurology, neurosurgery and psychiatry
#20
of 77 outputs
Altmetric has tracked 34,360,889 research outputs across all sources so far. Compared to these this one has done well and is in the 81st percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 8,758 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 15.0. This one has gotten more attention than average, scoring higher than 67% of its peers.
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We're also able to compare this research output to 77 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 74% of its contemporaries.