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Genetic analysis of polymorphisms in the kalirin gene for association with age-at-onset in European Huntington disease patients

Overview of attention for article published in BMC Medical Genomics, June 2012
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Title
Genetic analysis of polymorphisms in the kalirin gene for association with age-at-onset in European Huntington disease patients
Published in
BMC Medical Genomics, June 2012
DOI 10.1186/1471-2350-13-48
Pubmed ID
Authors

Yu-Chun Tsai, Silke Metzger, Olaf Riess, Anne S Soehn, Huu Phuc Nguyen

Abstract

Huntington disease (HD) is caused by an expanded CAG repeat in the HD gene. Although the length of the CAG repeat strongly correlates with the age-at-onset (AAO), AAO in HD individuals may differ dramatically in spite of similar expanded CAG repeat lengths. Additional genetic or environmental factors are thought to influence the disease onset. Several modifier genes have been discovered so far but they do not fully explain the variability of AAO in HD. To potentially identify a novel genetic modifier, we analyzed single nucleotide polymorphisms (SNPs) in the kalirin (KALRN) gene. Kalirin is a protein crucially involved in spine plasticity and its interaction with huntingtin-associated protein-1 (HAP-1) and a potential protein dysfunction might contribute to spine pathogenesis in HD.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 32 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 3%
Unknown 31 97%

Demographic breakdown

Readers by professional status Count As %
Student > Master 7 22%
Student > Ph. D. Student 6 19%
Researcher 5 16%
Student > Bachelor 4 13%
Student > Doctoral Student 3 9%
Other 1 3%
Unknown 6 19%
Readers by discipline Count As %
Medicine and Dentistry 8 25%
Agricultural and Biological Sciences 6 19%
Neuroscience 4 13%
Biochemistry, Genetics and Molecular Biology 2 6%
Psychology 2 6%
Other 2 6%
Unknown 8 25%
Attention Score in Context

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 26 June 2012.
All research outputs
#17,285,668
of 25,373,627 outputs
Outputs from BMC Medical Genomics
#1,315
of 2,444 outputs
Outputs of similar age
#116,618
of 177,445 outputs
Outputs of similar age from BMC Medical Genomics
#18
of 35 outputs
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