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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia
|
|---|---|
| Published in |
European Journal of Medical Genetics, July 2017
|
| DOI | 10.1016/j.ejmg.2017.07.010 |
| Pubmed ID | |
| Authors |
Malavika Hebbar, Katta M. Girisha, Anshika Srivastava, Stephanie Bielas, Anju Shukla |
| Abstract |
We ascertained a child with early onset cerebellar ataxia and identified a novel frameshift deletion, c.359del [p. (Pro120Leufs*2), NM_052865.2] in exon 2 of MGME1 (mitochondrial genome maintenance exonuclease 1) by exome sequencing. Variations in MGME1 have been reported to cause mitochondrial DNA (mtDNA) depletion syndrome 11 (MIM #615084) in an earlier work. The phenotype included progressive external ophthalmoplegia, emaciation, respiratory failure and late onset progressive ataxia. However, the child presented here has early onset progressive ataxia, speech delay, microcephaly, cerebellar atrophy and fundus albipunctatus. This is the second report of a mutation in MGME1 and describes a more severe phenotype. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Switzerland | 2 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 15 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 2 | 13% |
| Researcher | 2 | 13% |
| Student > Ph. D. Student | 2 | 13% |
| Other | 1 | 7% |
| Student > Bachelor | 1 | 7% |
| Other | 2 | 13% |
| Unknown | 5 | 33% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 5 | 33% |
| Medicine and Dentistry | 3 | 20% |
| Neuroscience | 1 | 7% |
| Unknown | 6 | 40% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 07 August 2017.
All research outputs
#17,292,294
of 25,382,440 outputs
Outputs from European Journal of Medical Genetics
#570
of 1,078 outputs
Outputs of similar age
#207,989
of 324,886 outputs
Outputs of similar age from European Journal of Medical Genetics
#10
of 21 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,078 research outputs from this source. They receive a mean Attention Score of 3.1. This one is in the 35th percentile – i.e., 35% of its peers scored the same or lower than it.
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We're also able to compare this research output to 21 others from the same source and published within six weeks on either side of this one. This one is in the 47th percentile – i.e., 47% of its contemporaries scored the same or lower than it.