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Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson’s Disease

Overview of attention for article published in Molecular Neurodegeneration, April 2016
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (85th percentile)
  • Average Attention Score compared to outputs of the same age and source

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1 news outlet
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7 X users

Citations

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60 Dimensions

Readers on

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128 Mendeley
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4 CiteULike
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Title
Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson’s Disease
Published in
Molecular Neurodegeneration, April 2016
DOI 10.1186/s13024-016-0097-0
Pubmed ID
Authors

Bruno A. Benitez, Albert A. Davis, Sheng Chih Jin, Laura Ibanez, Sara Ortega-Cubero, Pau Pastor, Jiyoon Choi, Breanna Cooper, Joel S. Perlmutter, Carlos Cruchaga

Abstract

Most sequencing studies in Parkinson's disease (PD) have focused on either a particular gene, primarily in familial and early onset PD samples, or on screening single variants in sporadic PD cases. To date, there is no systematic study that sequences the most common PD causing genes with Mendelian inheritance [α-synuclein (SNCA), leucine-rich repeat kinase 2 (LRRK2), PARKIN, PTEN-induced putative kinase 1 (PINK1) and DJ-1 (Daisuke-Junko-1)] and susceptibility genes [glucocerebrosidase beta acid (GBA) and microtubule-associated protein tau (MAPT)] identified through genome-wide association studies (GWAS) in a European-American case-control sample (n=815). Disease-causing variants in the SNCA, LRRK2 and PARK2 genes were found in 2 % of PD patients. The LRRK2, p.G2019S mutation was found in 0.6 % of sporadic PD and 4.8 % of familial PD cases. Gene-based analysis suggests that additional variants in the LRRK2 gene also contribute to PD risk. The SNCA duplication was found in 0.8 % of familial PD patients. Novel variants were found in 0.8 % of PD cases and 0.6 % of controls. Heterozygous Gaucher disease-causing mutations in the GBA gene were found in 7.1 % of PD patients. Here, we established that the GBA variant (p.T408M) is associated with PD risk and age at onset. Additionally, gene-based and single-variant analyses demostrated that GBA gene variants (p.L483P, p.R83C, p.N409S, p.H294Q and p.E365K) increase PD risk. Our data suggest that the impact of additional untested coding variants in the GBA and LRRK2 genes is higher than previously estimated. Our data also provide compelling evidence of the existence of additional untested variants in the primary Mendelian and PD GWAS genes that contribute to the genetic etiology of sporadic PD.

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X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 128 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 <1%
Unknown 127 99%

Demographic breakdown

Readers by professional status Count As %
Researcher 21 16%
Student > Master 19 15%
Student > Ph. D. Student 16 13%
Student > Bachelor 16 13%
Other 7 5%
Other 26 20%
Unknown 23 18%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 30 23%
Neuroscience 20 16%
Medicine and Dentistry 19 15%
Agricultural and Biological Sciences 14 11%
Nursing and Health Professions 4 3%
Other 12 9%
Unknown 29 23%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 12. 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 31 October 2019.
All research outputs
#2,573,090
of 22,865,319 outputs
Outputs from Molecular Neurodegeneration
#323
of 849 outputs
Outputs of similar age
#42,858
of 299,207 outputs
Outputs of similar age from Molecular Neurodegeneration
#8
of 17 outputs
Altmetric has tracked 22,865,319 research outputs across all sources so far. Compared to these this one has done well and is in the 88th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 849 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 14.2. This one has gotten more attention than average, scoring higher than 61% 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 299,207 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 85% of its contemporaries.
We're also able to compare this research output to 17 others from the same source and published within six weeks on either side of this one. This one is in the 47th percentile – i.e., 47% of its contemporaries scored the same or lower than it.