ScienceOpen:
research and publishing network
For Publishers
Discovery
Metadata
Peer review
Hosting
Publishing
For Researchers
Join
Publish
Review
Collect
My ScienceOpen
Sign in
Register
Dashboard
Blog
About
Search
Advanced search
My ScienceOpen
Sign in
Register
Dashboard
Search
Search
Advanced search
For Publishers
Discovery
Metadata
Peer review
Hosting
Publishing
For Researchers
Join
Publish
Review
Collect
Blog
About
20
views
0
references
Top references
cited by
20
Cite as...
0 reviews
Review
0
comments
Comment
0
recommends
+1
Recommend
1
collections
Add to
0
shares
Share
Twitter
Sina Weibo
Facebook
Email
790
similar
All similar
Record
: found
Abstract
: found
Article
: found
Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy
Author(s):
Sophie Scheidecker
,
Christelle Etard
,
Laurence Haren
,
Corinne Stoetzel
,
Sarah Hull
,
Gavin Arno
,
Vincent Plagnol
,
Séverine Drunat
,
Sandrine Passemard
,
Annick Toutain
,
Cathy Obringer
,
Mériam Koob
,
Véronique Geoffroy
,
Vincent Marion
,
Uwe Strähle
,
Pia Ostergaard
,
Alain Verloes
,
Andreas Merdes
,
Anthony T. Moore
,
Hélène Dollfus
Publication date:
2015-04-01
Journal:
The American Journal of Human Genetics
Publisher:
Elsevier BV
Read this article at
ScienceOpen
Publisher
PubMed
Further versions
open (via crossref license)
oa repository (via OAI-PMH doi match)
oa repository (via OAI-PMH title and first author match)
oa repository (via pmcid lookup)
Powered by
Review
Review article
Invite someone to review
Bookmark
Cite as...
There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.
Related collections
UCL: UN SDG 03 Good Health and Well-Being
Author and article information
Journal
DOI::
10.1016/j.ajhg.2015.02.011
PubMed ID::
25817018
License:
https://www.elsevier.com/tdm/userlicense/1.0/
Data availability:
Comments
Comment on this article
Sign in to comment
scite_
Similar content
790
A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia
Authors:
Sixian Wu
,
Chuan Jiang
,
Jiaman Li
…
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
Authors:
Shin Hayashi
,
Daniela Tiaki Uehara
,
Kousuke Tanimoto
…
Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction
Authors:
Leslie E. W. LaConte
,
Vrushali Chavan
,
Abdallah F. Elias
…
See all similar
Cited by
19
Non-centrosomal nucleation mediated by augmin organizes microtubules in post-mitotic neurons and controls axonal microtubule polarity
Authors:
Carlos Sánchez-Huertas
,
Francisco Freixo
,
Ricardo Viais
…
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress
Authors:
Ariane Kröll‐Hermi
,
Frédéric Ebstein
,
Corinne Stoetzel
…
Assembly and regulation of γ-tubulin complexes
Authors:
Dorian Farache
,
Laurent J Emorine
,
Laurence Haren
…
See all cited by
Version 1
- Current
Version 1