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Respiratory System Diseases

Overview of attention for book
Cover of 'Respiratory System Diseases'

Table of Contents

  1. Altmetric Badge
    Book Overview
  2. Altmetric Badge
    Chapter 6 Effectiveness of Bronchofiberoscopy in Diagnosis of Lung Lesions
  3. Altmetric Badge
    Chapter 7 Clinical Utility of Berlin Questionnaire in Comparison to Polysomnography in Patients with Obstructive Sleep Apnea
  4. Altmetric Badge
    Chapter 8 Hospital Morbidity Database for Epidemiological Studies on Churg-Strauss Syndrome
  5. Altmetric Badge
    Chapter 202 The Activity of Influenza and Influenza-like Viruses in Individuals Aged over 14 in the 2015/2016 Influenza Season in Poland
  6. Altmetric Badge
    Chapter 203 Impaired Vascular Function in Sarcoidosis Patients
  7. Altmetric Badge
    Chapter 204 Stress Response, Brain Noradrenergic System and Cognition
  8. Altmetric Badge
    Chapter 205 The Sentinel System as the Main Influenza Surveillance Tool
  9. Altmetric Badge
    Chapter 206 Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression
  10. Altmetric Badge
    Chapter 207 Public Perception of the Risks Associated with Infectious Diseases in Poland: Ebola and Influenza and Their Impact on the Attitude to Vaccination
  11. Altmetric Badge
    Chapter 208 Small Airway Obstruction in Chronic Obstructive Pulmonary Disease: Potential Parameters for Early Detection
Attention for Chapter 206: Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (72nd percentile)
  • High Attention Score compared to outputs of the same age and source (80th percentile)

Mentioned by

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1 blog

Readers on

mendeley
17 Mendeley
Summary Blogs
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Chapter title
Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression
Chapter number 206
Book title
Respiratory System Diseases
Published in
Advances in experimental medicine and biology, January 2017
DOI 10.1007/5584_2016_206
Pubmed ID
28293831
Book ISBNs
978-3-31-959497-2, 978-3-31-959498-9
Authors

Krzysztof Szczałuba, Krystyna Szymańska, Joanna Kosińska, Agnieszka Pollak, Victor Murcia, Anna Kędra, Piotr Stawiński, Małgorzata Rydzanicz, Urszula Demkow, Rafał Płoski, Szczałuba, Krzysztof, Szymańska, Krystyna, Kosińska, Joanna, Pollak, Agnieszka, Murcia, Victor, Kędra, Anna, Stawiński, Piotr, Rydzanicz, Małgorzata, Demkow, Urszula, Płoski, Rafał

Abstract

Biallelic mutations in the SPATA5 gene, encoding ATPase family protein, are an important cause of newly recognized epileptic encephalopathy classified as epilepsy, hearing loss, and mental retardation syndrome (EHLMRS, OMIM: 616577). Herein we describe a family in which two SPATA5 mutations with established pathogenicity (p.Thr330del and c.1714+1G>A) were found in the proband and her younger sister. The proband had a similar clinical picture to the previous descriptions of EHLMRS. In the sister, the only manifestation was an isolated sensorineural hearing loss. Our findings extend the phenotypic spectrum of SPATA5-associated diseases and indicate that SPATA5 defects may account for a fraction of isolated sensorineural hearing impairment cases.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 17 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 29%
Student > Ph. D. Student 2 12%
Student > Bachelor 2 12%
Student > Master 2 12%
Unknown 6 35%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 3 18%
Psychology 2 12%
Nursing and Health Professions 1 6%
Agricultural and Biological Sciences 1 6%
Computer Science 1 6%
Other 3 18%
Unknown 6 35%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 6. 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 29 March 2024.
All research outputs
#6,731,856
of 25,784,004 outputs
Outputs from Advances in experimental medicine and biology
#1,005
of 5,275 outputs
Outputs of similar age
#112,401
of 424,171 outputs
Outputs of similar age from Advances in experimental medicine and biology
#92
of 494 outputs
Altmetric has tracked 25,784,004 research outputs across all sources so far. This one has received more attention than most of these and is in the 73rd percentile.
So far Altmetric has tracked 5,275 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.2. This one has done well, scoring higher than 80% 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 424,171 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 72% of its contemporaries.
We're also able to compare this research output to 494 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 80% of its contemporaries.

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