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Autosomal recessive primary microcephaly due to ASPM mutations: An update

Overview of attention for article published in Human Mutation, January 2018
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  • High Attention Score compared to outputs of the same age and source (93rd percentile)

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3 X users
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1 Facebook page
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1 Wikipedia page

Citations

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57 Dimensions

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93 Mendeley
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1 CiteULike
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Title
Autosomal recessive primary microcephaly due to ASPM mutations: An update
Published in
Human Mutation, January 2018
DOI 10.1002/humu.23381
Pubmed ID
Authors

Pascaline Létard, Séverine Drunat, Yoann Vial, Sarah Duerinckx, Anais Ernault, Daniel Amram, Stéphanie Arpin, Marta Bertoli, Tiffany Busa, Berten Ceulemans, Julie Desir, Martine Doco‐Fenzy, Siham Chafai Elalaoui, Koenraad Devriendt, Laurence Faivre, Christine Francannet, David Geneviève, Marion Gérard, Cyril Gitiaux, Sophie Julia, Sébastien Lebon, Toni Lubala, Michèle Mathieu‐Dramard, Hélène Maurey, Julia Metreau, Sanaa Nasserereddine, Mathilde Nizon, Geneviève Pierquin, Nathalie Pouvreau, Clothilde Rivier‐Ringenbach, Massimiliano Rossi, Elise Schaefer, Abdelaziz Sefiani, Sabine Sigaudy, Yves Sznajer, Yusuf Tunca, Sophie Guilmin Crepon, Corinne Alberti, Monique Elmaleh‐Bergès, Brigitte Benzacken, Bernd Wollnick, C. Geoffrey Woods, Anita Rauch, Marc Abramowicz, Vincent El Ghouzzi, Pierre Gressens, Alain Verloes, Sandrine Passemard

Abstract

Autosomal recessive microcephaly or MicroCephaly Primary Hereditary (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a reduction in brain volume, indirectly measured by an occipitofrontal circumference (OFC) 2 standard deviations or more below the age- and sex-matched mean (-2SD) at birth and -3SD after 6 months, and leading to intellectual disability of variable severity. The Abnormal SPindle-like Microcephaly gene (ASPM), the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), encodes ASPM, a protein localized at the centrosome of apical neuroprogenitor cells and involved in spindle pole positioning during neurogenesis. Loss-of-function mutations in ASPM cause MCPH5, which affects the majority of all MCPH patients worldwide. Here, we report 47 unpublished patients from 39 families carrying 28 new ASPM mutations, and conduct an exhaustive review of the molecular, clinical, neuroradiological and neuropsychological features of the 282 families previously reported (with 161 distinct ASPM mutations). Furthermore, we show that ASPM-related microcephaly is not systematically associated with intellectual deficiency and discuss the association between the structural brain defects (strong reduction in cortical volume and surface area) that modify the cortical map of these patients and their cognitive abilities. This article is protected by copyright. All rights reserved.

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

Geographical breakdown

Country Count As %
Unknown 93 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 17 18%
Student > Master 13 14%
Student > Bachelor 9 10%
Researcher 8 9%
Professor 6 6%
Other 14 15%
Unknown 26 28%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 21 23%
Agricultural and Biological Sciences 9 10%
Medicine and Dentistry 9 10%
Neuroscience 8 9%
Psychology 3 3%
Other 11 12%
Unknown 32 34%
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 04 January 2022.
All research outputs
#6,932,988
of 25,382,440 outputs
Outputs from Human Mutation
#846
of 2,989 outputs
Outputs of similar age
#130,707
of 451,641 outputs
Outputs of similar age from Human Mutation
#2
of 31 outputs
Altmetric has tracked 25,382,440 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 2,989 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 71% 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 451,641 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 70% of its contemporaries.
We're also able to compare this research output to 31 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 93% of its contemporaries.