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Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

Overview of attention for article published in Molecular Neurodegeneration, April 2013
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Title
Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation
Published in
Molecular Neurodegeneration, April 2013
DOI 10.1186/1750-1326-8-12
Pubmed ID
Authors

Vladimir L Buchman, Johnathan Cooper-Knock, Natalie Connor-Robson, Adrian Higginbottom, Janine Kirby, Olga D Razinskaya, Natalia Ninkina, Pamela J Shaw

Abstract

Sizing of GGGGCC hexanucleotide repeat expansions within the C9ORF72 locus, which account for approximately 10% of all amyotrophic lateral sclerosis (ALS) cases, is urgently required to answer fundamental questions about mechanisms of pathogenesis in this important genetic variant. Currently employed PCR protocols are limited to discrimination between the presence and absence of a modified allele with more than 30 copies of the repeat, while Southern hybridisation-based methods are confounded by the somatic heterogeneity commonly present in blood samples, which might cause false-negative or ambiguous results.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 100 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 1%
Canada 1 1%
Austria 1 1%
Unknown 97 97%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 21 21%
Researcher 18 18%
Student > Bachelor 12 12%
Student > Master 10 10%
Student > Postgraduate 6 6%
Other 18 18%
Unknown 15 15%
Readers by discipline Count As %
Agricultural and Biological Sciences 25 25%
Biochemistry, Genetics and Molecular Biology 19 19%
Neuroscience 18 18%
Medicine and Dentistry 13 13%
Psychology 2 2%
Other 4 4%
Unknown 19 19%
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 10 April 2013.
All research outputs
#19,944,994
of 25,374,647 outputs
Outputs from Molecular Neurodegeneration
#890
of 977 outputs
Outputs of similar age
#156,212
of 212,292 outputs
Outputs of similar age from Molecular Neurodegeneration
#3
of 5 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. This one is in the 18th percentile – i.e., 18% of other outputs scored the same or lower than it.
So far Altmetric has tracked 977 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 16.6. This one is in the 6th percentile – i.e., 6% of its peers scored the same or lower than it.
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