| Title |
Mitochondrial Disease in Childhood: mtDNA Encoded
|
|---|---|
| Published in |
Neurotherapeutics, April 2013
|
| DOI | 10.1007/s13311-012-0167-0 |
| Pubmed ID | |
| Authors |
Russell P. Saneto, Margret M. Sedensky |
| Abstract |
Since the first description of a mitochondrial DNA (mtDNA)-associated disease in the late 1980s, there have been more than 275 mutations within the mtDNA genome described causing human disease. The phenotypic expression of these disorders is vast, as disturbances of the unique physiology of mitochondria can create a wide range of clinical heterogeneity. Features of heteroplasmy, threshold effect, genetic bottleneck, mtDNA depletion, mitotic segregation, and maternal inheritance have been identified and described as a result of novel biochemical and genetic controls of mitochondrial function. We hope that as we unfold this fascinating part of clinical medicine, the reader will see how alterations in the tapestry of mitochondrial biochemistry and genetics can give rise to human illness. |
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 % |
|---|---|---|
| United States | 1 | 50% |
| Unknown | 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 77 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 2 | 3% |
| Czechia | 1 | 1% |
| Unknown | 74 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 17 | 22% |
| Student > Bachelor | 14 | 18% |
| Student > Ph. D. Student | 10 | 13% |
| Student > Master | 7 | 9% |
| Other | 4 | 5% |
| Other | 11 | 14% |
| Unknown | 14 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 20 | 26% |
| Biochemistry, Genetics and Molecular Biology | 15 | 19% |
| Agricultural and Biological Sciences | 14 | 18% |
| Neuroscience | 4 | 5% |
| Nursing and Health Professions | 2 | 3% |
| Other | 5 | 6% |
| Unknown | 17 | 22% |
Attention Score in Context
This research output has an Altmetric Attention Score of 6. 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 01 January 2016.
All research outputs
#6,788,732
of 25,837,817 outputs
Outputs from Neurotherapeutics
#671
of 1,328 outputs
Outputs of similar age
#53,951
of 215,603 outputs
Outputs of similar age from Neurotherapeutics
#3
of 10 outputs
Altmetric has tracked 25,837,817 research outputs across all sources so far. This one has received more attention than most of these and is in the 74th percentile.
So far Altmetric has tracked 1,328 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 18.5. This one is in the 48th percentile – i.e., 48% of its peers scored the same or lower than it.
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We're also able to compare this research output to 10 others from the same source and published within six weeks on either side of this one. This one has scored higher than 7 of them.