↓ Skip to main content

Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation

Overview of attention for article published in Orphanet Journal of Rare Diseases, April 2013
Altmetric Badge

About this Attention Score

  • Good Attention Score compared to outputs of the same age (73rd percentile)
  • Good Attention Score compared to outputs of the same age and source (72nd percentile)

Mentioned by

twitter
3 X users
wikipedia
1 Wikipedia page

Citations

dimensions_citation
28 Dimensions

Readers on

mendeley
53 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation
Published in
Orphanet Journal of Rare Diseases, April 2013
DOI 10.1186/1750-1172-8-59
Pubmed ID
Authors

Lina Issa, Katrin Mueller, Katja Seufert, Nadine Kraemer, Henning Rosenkotter, Olaf Ninnemann, Michael Buob, Angela M Kaindl, Deborah J Morris-Rosendahl

Abstract

Primary autosomal recessive microcephaly (MCPH) is a rare neurodevelopmental disorder that results in severe microcephaly at birth with pronounced reduction in brain volume, particularly of the neocortex, simplified cortical gyration and intellectual disability. Homozygous mutations in the Cyclin-dependent kinase 5 regulatory subunit-associated protein 2 gene CDK5RAP2 are the cause of MCPH3. Despite considerable interest in MCPH as a model disorder for brain development, the underlying pathomechanism has not been definitively established and only four pedigrees with three CDK5RAP2 mutations have been reported. Specifically for MCPH3, no detailed radiological or histological descriptions exist.

X Demographics

X Demographics

The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 53 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Japan 1 2%
United States 1 2%
Unknown 51 96%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 18 34%
Researcher 8 15%
Student > Master 4 8%
Professor > Associate Professor 3 6%
Student > Doctoral Student 3 6%
Other 8 15%
Unknown 9 17%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 14 26%
Agricultural and Biological Sciences 10 19%
Psychology 6 11%
Medicine and Dentistry 5 9%
Neuroscience 3 6%
Other 4 8%
Unknown 11 21%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 2020.
All research outputs
#6,121,314
of 22,707,247 outputs
Outputs from Orphanet Journal of Rare Diseases
#784
of 2,601 outputs
Outputs of similar age
#51,177
of 197,209 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#8
of 29 outputs
Altmetric has tracked 22,707,247 research outputs across all sources so far. This one has received more attention than most of these and is in the 72nd percentile.
So far Altmetric has tracked 2,601 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.5. This one has gotten more attention than average, scoring higher than 68% 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 197,209 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 73% of its contemporaries.
We're also able to compare this research output to 29 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 72% of its contemporaries.