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Mendeley readers
Attention Score in Context
| Title |
Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families
|
|---|---|
| Published in |
BMC Research Notes, June 2016
|
| DOI | 10.1186/s13104-016-2102-7 |
| Pubmed ID | |
| Authors |
Saeed A. Bohlega, Bashayer R. Al-Mubarak, Eman A. Alyemni, Mohamed Abouelhoda, Dorota Monies, Abeer E. Mustafa, Dania S. Khalil, Sara Al Haibi, Hussam Abou Al-Shaar, Tariq Faquih, Mohamed El-Kalioby, Asma I. Tahir, Nada A. Al Tassan |
| Abstract |
Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation and more recently, early-onset dystonia parkinsonism. Targeted-next generation sequencing using a custom Neurology panel, containing 758 OMIM-listed genes implicated in neurological disorders, was carried out in two index cases from two different Saudi families displaying early-onset levodopa-responsive Parkinsonism with pyramidal signs and additional clinical features. The detected mutations were verified in the index cases and available family members by direct sequencing. We identified a previously described PLA2G6 homozygous p.R741Q mutation in three affected and two asymptomatic individuals from two Saudi families. Our finding reinforces the notion of the broadness of the clinical spectrum of PLA2G6-related neurodegeneration. |
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 % |
|---|---|---|
| Unknown | 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 26 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 26 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 4 | 15% |
| Student > Ph. D. Student | 3 | 12% |
| Student > Bachelor | 3 | 12% |
| Researcher | 3 | 12% |
| Professor > Associate Professor | 2 | 8% |
| Other | 6 | 23% |
| Unknown | 5 | 19% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 7 | 27% |
| Neuroscience | 6 | 23% |
| Medicine and Dentistry | 3 | 12% |
| Computer Science | 2 | 8% |
| Psychology | 2 | 8% |
| Other | 2 | 8% |
| Unknown | 4 | 15% |
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 10 June 2016.
All research outputs
#20,332,117
of 22,876,619 outputs
Outputs from BMC Research Notes
#3,563
of 4,268 outputs
Outputs of similar age
#293,585
of 341,017 outputs
Outputs of similar age from BMC Research Notes
#68
of 81 outputs
Altmetric has tracked 22,876,619 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 4,268 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.5. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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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.