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Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD

Overview of attention for article published in Orphanet Journal of Rare Diseases, April 2016
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  • Good Attention Score compared to outputs of the same age (65th percentile)
  • Average Attention Score compared to outputs of the same age and source

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5 tweeters

Citations

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6 Dimensions

Readers on

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6 Mendeley
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Title
Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD
Published in
Orphanet Journal of Rare Diseases, April 2016
DOI 10.1186/s13023-016-0433-z
Pubmed ID
Authors

Sylvie Picker-Minh, Cyril Mignot, Diane Doummar, Mais Hashem, Eissa Faqeih, Patrice Josset, Béatrice Dubern, Fowzan S. Alkuraya, Nadine Kraemer, Angela M. Kaindl

Abstract

Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) has been recently linked to biallelic mutation of the peptidyl-tRNA hydrolase 2 gene PTRH2. Two index patients with IMNEPD in the original report had multiple neurological symptoms such as postnatal microcephaly, intellectual disability, developmental delay, sensorineural deafness, cerebellar atrophy, ataxia, and peripheral neuropathy. In addition, distal muscle weakness and abnormalities of thyroid, pancreas, and liver were found. Here, we report five further IMNEPD patients with a different homozygous PTRH2 mutation, broaden the phenotypic spectrum of the disease and differentiate common symptoms and interindividual variability in IMNEPD associated with a unique mutation. We thereby hope to better define IMNEPD and promote recognition and diagnosis of this novel disease entity.

Twitter Demographics

The data shown below were collected from the profiles of 5 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 6 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 6 100%

Demographic breakdown

Readers by professional status Count As %
Other 2 33%
Student > Ph. D. Student 1 17%
Professor 1 17%
Student > Doctoral Student 1 17%
Unspecified 1 17%
Other 0 0%
Readers by discipline Count As %
Unspecified 2 33%
Biochemistry, Genetics and Molecular Biology 1 17%
Arts and Humanities 1 17%
Sports and Recreations 1 17%
Chemistry 1 17%
Other 0 0%

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 05 May 2016.
All research outputs
#2,890,230
of 7,657,182 outputs
Outputs from Orphanet Journal of Rare Diseases
#424
of 1,075 outputs
Outputs of similar age
#90,470
of 267,028 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#35
of 57 outputs
Altmetric has tracked 7,657,182 research outputs across all sources so far. This one has received more attention than most of these and is in the 61st percentile.
So far Altmetric has tracked 1,075 research outputs from this source. They receive a mean Attention Score of 4.8. This one has gotten more attention than average, scoring higher than 59% 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 267,028 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 65% of its contemporaries.
We're also able to compare this research output to 57 others from the same source and published within six weeks on either side of this one. This one is in the 36th percentile – i.e., 36% of its contemporaries scored the same or lower than it.