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X Demographics
Mendeley readers
Attention Score in Context
| Title |
A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation
|
|---|---|
| Published in |
Frontiers in Neurology, November 2016
|
| DOI | 10.3389/fneur.2016.00185 |
| Pubmed ID | |
| Authors |
Marco Ceccanti, Chiara Cambieri, Vittorio Frasca, Emanuela Onesti, Antonella Biasiotta, Carla Giordano, Sabina M. Bruno, Giancarlo Testino, Marco Lucarelli, Marcello Arca, Maurizio Inghilleri |
| Abstract |
Tangier disease is an autosomal recessive disorder characterized by severe reduction in high-density lipoprotein cholesterol and peripheral lipid storage. We describe a family with c.5094C > A p.Tyr1698* mutation in the ABCA1 gene, clinically characterized by syringomyelic-like anesthesia, demyelinating multineuropathy, and reduction in intraepidermal small fibers innervation. In the proband patient, cardiac involvement determined a myocardial infarction; lipid storage was demonstrated in gut, cornea, and aortic wall. The reported ABCA1 mutation has never been described before in a Tangier family. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Switzerland | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 29 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 29 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 5 | 17% |
| Researcher | 4 | 14% |
| Student > Ph. D. Student | 4 | 14% |
| Student > Master | 3 | 10% |
| Librarian | 1 | 3% |
| Other | 3 | 10% |
| Unknown | 9 | 31% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 7 | 24% |
| Biochemistry, Genetics and Molecular Biology | 4 | 14% |
| Agricultural and Biological Sciences | 3 | 10% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 7% |
| Neuroscience | 2 | 7% |
| Other | 1 | 3% |
| Unknown | 10 | 34% |
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 02 November 2016.
All research outputs
#20,351,881
of 22,899,952 outputs
Outputs from Frontiers in Neurology
#8,831
of 11,818 outputs
Outputs of similar age
#269,105
of 311,560 outputs
Outputs of similar age from Frontiers in Neurology
#53
of 81 outputs
Altmetric has tracked 22,899,952 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 11,818 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.3. This one is in the 1st percentile – i.e., 1% 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 311,560 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 81 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.