| Title |
Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms
|
|---|---|
| Published in |
Journal of Inherited Metabolic Disease, June 2018
|
| DOI | 10.1007/s10545-018-0205-0 |
| Pubmed ID | |
| Authors |
Lucia Abela, Manju A. Kurian |
| Abstract |
Movement disorders comprise a group of heterogeneous diseases with often complex clinical phenotypes. Overlapping symptoms and a lack of diagnostic biomarkers may hamper making a definitive diagnosis. Next-generation sequencing techniques have substantially contributed to unraveling genetic etiologies underlying movement disorders and thereby improved diagnoses. Defects in dopaminergic signaling in postsynaptic striatal medium spiny neurons are emerging as a pathogenic mechanism in a number of newly identified hyperkinetic movement disorders. Several of the causative genes encode components of the cAMP pathway, a critical postsynaptic signaling pathway in medium spiny neurons. Here, we review the clinical presentation, genetic findings, and disease mechanisms that characterize these genetic postsynaptic movement disorders. |
X Demographics
The data shown below were collected from the profiles of 8 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 Kingdom | 2 | 25% |
| Australia | 1 | 13% |
| Unknown | 5 | 63% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 4 | 50% |
| Scientists | 2 | 25% |
| Science communicators (journalists, bloggers, editors) | 1 | 13% |
| Practitioners (doctors, other healthcare professionals) | 1 | 13% |
Mendeley readers
The data shown below were compiled from readership statistics for 44 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 44 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Unspecified | 5 | 11% |
| Student > Ph. D. Student | 4 | 9% |
| Researcher | 4 | 9% |
| Other | 3 | 7% |
| Student > Bachelor | 3 | 7% |
| Other | 13 | 30% |
| Unknown | 12 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 11 | 25% |
| Neuroscience | 8 | 18% |
| Unspecified | 5 | 11% |
| Nursing and Health Professions | 2 | 5% |
| Computer Science | 1 | 2% |
| Other | 3 | 7% |
| Unknown | 14 | 32% |
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 16 October 2020.
All research outputs
#6,517,937
of 25,380,089 outputs
Outputs from Journal of Inherited Metabolic Disease
#511
of 1,999 outputs
Outputs of similar age
#94,815
of 305,173 outputs
Outputs of similar age from Journal of Inherited Metabolic Disease
#9
of 35 outputs
Altmetric has tracked 25,380,089 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 1,999 research outputs from this source. They receive a mean Attention Score of 4.8. This one has gotten more attention than average, scoring higher than 74% 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 305,173 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 70% of its contemporaries.
We're also able to compare this research output to 35 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 77% of its contemporaries.