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X Demographics
Mendeley readers
Attention Score in Context
| Title |
A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis
|
|---|---|
| Published in |
Frontiers in Aging Neuroscience, December 2016
|
| DOI | 10.3389/fnagi.2016.00291 |
| Pubmed ID | |
| Authors |
Chujun Wu, Dongsheng Fan |
| Abstract |
Background: Juvenile amyotrophic lateral sclerosis (jALS) is a rare form of ALS with an onset age of less than 25 years and is frequently thought to be genetic in origin. DDHD1 gene mutations have been reported to be associated with the SPG28 subtype of autosomal recessive HSP but have never been reported in jALS patients. Methods: Gene screens for the causative genes of ALS, HSP and CMT using next-generation sequencing (NGS) technologies were performed on a jALS patient. Sanger sequencing was used to validate identified variants and perform segregation analysis. Results: We identified a novel c.1483A>G (p.Met495Val) homozygous missense mutation of the DDHD1 gene in the jALS patient. All of his parents and young bother were heterozygous for this mutation. The mutation was not found in 800 Chinese control subjects or the database of dbSNP, ExAC and 1000G. Conclusion: The novel c.1483A>G (p.Met495Val) missense mutation of the DDHD1 gene could be a causative mutation of autosomal recessive jALS. |
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 % |
|---|---|---|
| Brazil | 1 | 50% |
| Switzerland | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 25 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Lecturer | 3 | 12% |
| Student > Bachelor | 3 | 12% |
| Student > Doctoral Student | 2 | 8% |
| Student > Ph. D. Student | 2 | 8% |
| Researcher | 2 | 8% |
| Other | 4 | 16% |
| Unknown | 9 | 36% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 3 | 12% |
| Medicine and Dentistry | 3 | 12% |
| Neuroscience | 2 | 8% |
| Psychology | 2 | 8% |
| Chemical Engineering | 1 | 4% |
| Other | 3 | 12% |
| Unknown | 11 | 44% |
Attention Score in Context
This research output has an Altmetric Attention Score of 10. 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 December 2016.
All research outputs
#3,082,133
of 22,914,829 outputs
Outputs from Frontiers in Aging Neuroscience
#1,505
of 4,825 outputs
Outputs of similar age
#63,351
of 419,601 outputs
Outputs of similar age from Frontiers in Aging Neuroscience
#34
of 93 outputs
Altmetric has tracked 22,914,829 research outputs across all sources so far. Compared to these this one has done well and is in the 86th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 4,825 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 13.0. This one has gotten more attention than average, scoring higher than 66% 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 419,601 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 84% of its contemporaries.
We're also able to compare this research output to 93 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 62% of its contemporaries.