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Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

Overview of attention for article published in Orphanet Journal of Rare Diseases, November 2017
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (83rd percentile)
  • Above-average Attention Score compared to outputs of the same age and source (59th percentile)

Mentioned by

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1 news outlet
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3 X users

Citations

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17 Dimensions

Readers on

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38 Mendeley
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1 CiteULike
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Title
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia
Published in
Orphanet Journal of Rare Diseases, November 2017
DOI 10.1186/s13023-017-0721-2
Pubmed ID
Authors

Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M. Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B. Singleton, Georgia Xiromerisiou

Abstract

Autosomal recessive hereditary spastic paraplegia (HSP) due to AP4M1 mutations is a very rare neurodevelopmental disorder reported for only a few patients. We investigated a Greek HSP family using whole exome sequencing (WES). A novel AP4M1A frameshift insertion, and a very rare missense variant were identified in all three affected siblings in the compound heterozygous state (p.V174fs and p.C319R); the unaffected parents were carriers of only one variant. Patients were affected with a combination of: (a) febrile seizures with onset in the first year of life (followed by epileptic non-febrile seizures); (b) distinctive facial appearance (e.g., coarse features, bulbous nose and hypomimia); (c) developmental delay and intellectual disability; (d) early-onset spastic weakness of the lower limbs; and (e) cerebellar hypoplasia/atrophy on brain MRI. We review genotype-phenotype correlations and discuss clinical overlaps between different AP4-related diseases. The AP4M1 belongs to a complex that mediates vesicle trafficking of glutamate receptors, being likely involved in brain development and neurotransmission.

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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 38 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 38 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 6 16%
Researcher 5 13%
Other 3 8%
Student > Doctoral Student 3 8%
Student > Postgraduate 2 5%
Other 6 16%
Unknown 13 34%
Readers by discipline Count As %
Medicine and Dentistry 10 26%
Neuroscience 4 11%
Social Sciences 4 11%
Biochemistry, Genetics and Molecular Biology 3 8%
Nursing and Health Professions 2 5%
Other 2 5%
Unknown 13 34%
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 11 October 2023.
All research outputs
#2,856,793
of 24,605,383 outputs
Outputs from Orphanet Journal of Rare Diseases
#387
of 2,939 outputs
Outputs of similar age
#53,285
of 334,633 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#10
of 22 outputs
Altmetric has tracked 24,605,383 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 2,939 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.1. This one has done well, scoring higher than 86% 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 334,633 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 83% of its contemporaries.
We're also able to compare this research output to 22 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 59% of its contemporaries.