(Q55122153)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

title

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Xilma R Ortiz-Gonzalez

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Sara Nuovo

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

David G. Hunter

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

author name string

Caroline Andrews

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Wai-Man Chan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Max A Tischfield

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Steven F Stasheff

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Francesco Brancati

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Francesco Garaci

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Sarah E MacKinnon

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

P Ellen Grant

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Elizabeth C Engle

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

language of work or name

English

0 references

publication date

6 December 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

1 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

volume

170A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

page(s)

297-305

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

1 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4770801

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4770801

High-Resolution Microtubule Structures Reveal the Structural Transitions in αβ-Tubulin upon GTP Hydrolysis

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4770801

Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4770801

The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4770801

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4770801

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4770801

Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4770801

Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4770801

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4770801

A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4770801

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4770801

Refined structure of alpha beta-tubulin at 3.5 A resolution

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4770801

Congenital Fibrosis of the Extraocular Muscles

22 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.37362

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37362

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

release_vvnwnrd35zarrit7bthxc6cd2e

1 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/vvnwnrd35zarrit7bthxc6cd2e

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26639658%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

PubMed publication ID

26639658

1 reference