↓ Skip to main content

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology

Overview of attention for article published in Skeletal Muscle, June 2014
Altmetric Badge

About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Among the highest-scoring outputs from this source (#29 of 388)
  • High Attention Score compared to outputs of the same age (93rd percentile)
  • High Attention Score compared to outputs of the same age and source (83rd percentile)

Mentioned by

twitter
12 X users
patent
10 patents
facebook
5 Facebook pages
wikipedia
1 Wikipedia page

Citations

dimensions_citation
141 Dimensions

Readers on

mendeley
179 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
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
Published in
Skeletal Muscle, June 2014
DOI 10.1186/2044-5040-4-12
Pubmed ID
Authors

Rabi Tawil, Silvère M van der Maarel, Stephen J Tapscott

Abstract

Although the pathophysiology of facioscapulohumeral dystrophy (FSHD) has been controversial over the last decades, progress in recent years has led to a model that incorporates these decades of findings and is gaining general acceptance in the FSHD research community. Here we review how the contributions from many labs over many years led to an understanding of a fundamentally new mechanism of human disease. FSHD is caused by inefficient repeat-mediated epigenetic repression of the D4Z4 macrosatellite repeat array on chromosome 4, resulting in the variegated expression of the DUX4 retrogene, encoding a double-homeobox transcription factor, in skeletal muscle. Normally expressed in the testis and epigenetically repressed in somatic tissues, DUX4 expression in skeletal muscle induces expression of many germline, stem cell, and other genes that might account for the pathophysiology of FSHD. Although some disagreements regarding the details of mechanisms remain in the field, the coalescing agreement on a central model of pathophysiology represents a pivot-point in FSHD research, transitioning the field from discovery-oriented studies to translational studies aimed at developing therapies based on a sound model of disease pathophysiology.

X Demographics

X Demographics

The data shown below were collected from the profiles of 12 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 179 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
France 2 1%
Australia 1 <1%
Brazil 1 <1%
Sweden 1 <1%
Denmark 1 <1%
Unknown 173 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 42 23%
Student > Ph. D. Student 30 17%
Student > Bachelor 21 12%
Student > Master 18 10%
Other 10 6%
Other 25 14%
Unknown 33 18%
Readers by discipline Count As %
Agricultural and Biological Sciences 43 24%
Biochemistry, Genetics and Molecular Biology 40 22%
Medicine and Dentistry 31 17%
Neuroscience 7 4%
Nursing and Health Professions 4 2%
Other 15 8%
Unknown 39 22%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 22. 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 April 2023.
All research outputs
#1,713,359
of 25,373,627 outputs
Outputs from Skeletal Muscle
#29
of 388 outputs
Outputs of similar age
#16,711
of 244,219 outputs
Outputs of similar age from Skeletal Muscle
#1
of 6 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 93rd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 388 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.2. This one has done particularly well, scoring higher than 92% 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 244,219 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 93% of its contemporaries.
We're also able to compare this research output to 6 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them