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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Genome-wide association study in essential tremor identifies three new loci
|
|---|---|
| Published in |
Brain, October 2016
|
| DOI | 10.1093/brain/aww242 |
| Pubmed ID | |
| Authors |
Stefanie H. Müller, Simon L. Girard, Franziska Hopfner, Nancy D. Merner, Cynthia V. Bourassa, Delia Lorenz, Lorraine N. Clark, Lukas Tittmann, Alexandra I. Soto-Ortolaza, Stephan Klebe, Mark Hallett, Susanne A. Schneider, Colin A. Hodgkinson, Wolfgang Lieb, Zbigniew K. Wszolek, Manuela Pendziwiat, Oswaldo Lorenzo-Betancor, Werner Poewe, Sara Ortega-Cubero, Klaus Seppi, Alex Rajput, Anna Hussl, Ali H. Rajput, Daniela Berg, Patrick A. Dion, Isabel Wurster, Joshua M. Shulman, Karin Srulijes, Dietrich Haubenberger, Pau Pastor, Carles Vilariño-Güell, Ronald B. Postuma, Geneviève Bernard, Karl-Heinz Ladwig, Nicolas Dupré, Joseph Jankovic, Konstantin Strauch, Michel Panisset, Juliane Winkelmann, Claudia M. Testa, Eva Reischl, Kirsten E. Zeuner, Owen A. Ross, Thomas Arzberger, Sylvain Chouinard, Günther Deuschl, Elan D. Louis, Gregor Kuhlenbäumer, Guy A. Rouleau |
| Abstract |
We conducted a genome-wide association study of essential tremor, a common movement disorder characterized mainly by a postural and kinetic tremor of the upper extremities. Twin and family history studies show a high heritability for essential tremor. The molecular genetic determinants of essential tremor are unknown. We included 2807 patients and 6441 controls of European descent in our two-stage genome-wide association study. The 59 most significantly disease-associated markers of the discovery stage were genotyped in the replication stage. After Bonferroni correction two markers, one (rs10937625) located in the serine/threonine kinase STK32B and one (rs17590046) in the transcriptional coactivator PPARGC1A were associated with essential tremor. Three markers (rs12764057, rs10822974, rs7903491) in the cell-adhesion molecule CTNNA3 were significant in the combined analysis of both stages. The expression of STK32B was increased in the cerebellar cortex of patients and expression quantitative trait loci database mining showed association between the protective minor allele of rs10937625 and reduced expression in cerebellar cortex. We found no expression differences related to disease status or marker genotype for the other two genes. Replication of two lead single nucleotide polymorphisms of previous small genome-wide association studies (rs3794087 in SLC1A2, rs9652490 in LINGO1) did not confirm the association with essential tremor. |
X Demographics
The data shown below were collected from the profiles of 29 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 | 7 | 24% |
| United States | 3 | 10% |
| Canada | 2 | 7% |
| Spain | 2 | 7% |
| Germany | 1 | 3% |
| Switzerland | 1 | 3% |
| Japan | 1 | 3% |
| Argentina | 1 | 3% |
| Unknown | 11 | 38% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 21 | 72% |
| Science communicators (journalists, bloggers, editors) | 3 | 10% |
| Scientists | 3 | 10% |
| Practitioners (doctors, other healthcare professionals) | 2 | 7% |
Mendeley readers
The data shown below were compiled from readership statistics for 98 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 1% |
| Austria | 1 | 1% |
| Unknown | 96 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 18 | 18% |
| Student > Ph. D. Student | 13 | 13% |
| Other | 11 | 11% |
| Student > Bachelor | 7 | 7% |
| Student > Doctoral Student | 7 | 7% |
| Other | 20 | 20% |
| Unknown | 22 | 22% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 19 | 19% |
| Biochemistry, Genetics and Molecular Biology | 17 | 17% |
| Neuroscience | 16 | 16% |
| Agricultural and Biological Sciences | 8 | 8% |
| Engineering | 3 | 3% |
| Other | 12 | 12% |
| Unknown | 23 | 23% |
Attention Score in Context
This research output has an Altmetric Attention Score of 119. 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 13 December 2018.
All research outputs
#351,376
of 25,402,889 outputs
Outputs from Brain
#280
of 7,604 outputs
Outputs of similar age
#6,792
of 322,987 outputs
Outputs of similar age from Brain
#2
of 59 outputs
Altmetric has tracked 25,402,889 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 98th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,604 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 27.8. This one has done particularly well, scoring higher than 96% 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 322,987 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 97% of its contemporaries.
We're also able to compare this research output to 59 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 98% of its contemporaries.