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X Demographics
Mendeley readers
Attention Score in Context
| Title |
A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, December 2011
|
| DOI | 10.1186/1750-1172-6-87 |
| Pubmed ID | |
| Authors |
Julien Cassereau, Arnaud Chevrollier, Dominique Bonneau, Christophe Verny, Vincent Procaccio, Pascal Reynier, Marc Ferré |
| Abstract |
The ganglioside-induced differentiation-associated protein 1 gene (GDAP1), which is involved in the Charcot-Marie-Tooth disease (CMT), the most commonly inherited peripheral neuropathy, encodes a protein anchored to the mitochondrial outer membrane. The phenotypic presentations of patients carrying GDAP1 mutations are heterogeneous, making it difficult to determine genotype-phenotype correlations, since the majority of the mutations have been found in only a few unrelated patients. Locus-specific databases (LSDB) established in the framework of the Human Variome Project provide powerful tools for the investigation of such rare diseases. |
X Demographics
The data shown below were collected from the profiles of 4 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Netherlands | 1 | 25% |
| France | 1 | 25% |
| Switzerland | 1 | 25% |
| Unknown | 1 | 25% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 3 | 75% |
| Scientists | 1 | 25% |
Mendeley readers
The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 18 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 3 | 17% |
| Other | 2 | 11% |
| Researcher | 2 | 11% |
| Student > Doctoral Student | 1 | 6% |
| Student > Ph. D. Student | 1 | 6% |
| Other | 3 | 17% |
| Unknown | 6 | 33% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 3 | 17% |
| Biochemistry, Genetics and Molecular Biology | 2 | 11% |
| Neuroscience | 2 | 11% |
| Medicine and Dentistry | 2 | 11% |
| Arts and Humanities | 1 | 6% |
| Other | 0 | 0% |
| Unknown | 8 | 44% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. 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 11 March 2013.
All research outputs
#6,910,541
of 22,660,862 outputs
Outputs from Orphanet Journal of Rare Diseases
#972
of 2,590 outputs
Outputs of similar age
#63,660
of 243,292 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#22
of 43 outputs
Altmetric has tracked 22,660,862 research outputs across all sources so far. This one has received more attention than most of these and is in the 68th percentile.
So far Altmetric has tracked 2,590 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one has gotten more attention than average, scoring higher than 61% 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 243,292 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 72% of its contemporaries.
We're also able to compare this research output to 43 others from the same source and published within six weeks on either side of this one. This one is in the 41st percentile – i.e., 41% of its contemporaries scored the same or lower than it.