Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy (Q51362886)

http://europepmc.org/abstract/PMC/5159775

4 April 2018

title

Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy (English)

1 reference

http://europepmc.org/abstract/PMC/5159775

4 April 2018

1 reference

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27782105 AND SRC:MED&resulttype=core&format=json

3 June 2020

Marie Vincent

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27782105 AND SRC:MED&resulttype=core&format=json

3 June 2020

Sébastien Küry

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27782105 AND SRC:MED&resulttype=core&format=json

3 June 2020

author name string

Mathilde Nizon

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27782105 AND SRC:MED&resulttype=core&format=json

3 June 2020

Benjamin Cogne

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27782105 AND SRC:MED&resulttype=core&format=json

3 June 2020

Jean-Michel Vallat

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27782105 AND SRC:MED&resulttype=core&format=json

3 June 2020

Madeleine Joubert

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27782105 AND SRC:MED&resulttype=core&format=json

3 June 2020

Laure Simon

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27782105 AND SRC:MED&resulttype=core&format=json

3 June 2020

Pierre Boisseau

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27782105 AND SRC:MED&resulttype=core&format=json

3 June 2020

Sébastien Schmitt

10

1 reference

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3 June 2020

Sandra Mercier

11

1 reference

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3 June 2020

Claire Bénéteau

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27782105 AND SRC:MED&resulttype=core&format=json

3 June 2020

Catherine Larrose

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27782105 AND SRC:MED&resulttype=core&format=json

3 June 2020

Marianne Coste

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27782105 AND SRC:MED&resulttype=core&format=json

3 June 2020

Xénia Latypova

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27782105 AND SRC:MED&resulttype=core&format=json

3 June 2020

Yann Péréon

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27782105 AND SRC:MED&resulttype=core&format=json

3 June 2020

Jean-Marie Mussini

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27782105 AND SRC:MED&resulttype=core&format=json

3 June 2020

Stéphane Bézieau

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27782105 AND SRC:MED&resulttype=core&format=json

3 June 2020

Bertrand Isidor

19

1 reference

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3 June 2020

publication date

26 October 2016

1 reference

http://europepmc.org/abstract/PMC/5159775

4 April 2018

published in

European Journal of Human Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27782105 AND SRC:MED&resulttype=core&format=json

3 June 2020

volume

25

1 reference

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3 June 2020

issue

1

1 reference

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3 June 2020

page(s)

150-152

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27782105 AND SRC:MED&resulttype=core&format=json

Analysis of protein-coding genetic variation in 60,706 humans

3 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159775

Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159775

Caspr and caspr2 are required for both radial and longitudinal organization of myelinated axons.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159775

Contactin-1 regulates myelination and nodal/paranodal domain organization in the central nervous system

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159775

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159775

Neuro-glial interactions at the nodes of Ranvier: implication in health and diseases

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159775

Multiple functions of the paranodal junction of myelinated nerve fibers

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159775

Axon-glia interactions and the domain organization of myelinated axons requires neurexin IV/Caspr/Paranodin

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159775

EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159775

Molecular domains of myelinated axons

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159775

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159775

The axonal membrane protein Caspr, a homologue of neurexin IV, is a component of the septate-like paranodal junctions that assemble during myelination

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159775

Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159775

Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159775

Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159775

Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159775

Arthrogryposis Multiplex Congenita

14 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038/EJHG.2016.142

21 January 2018

Identifiers

DOI

10.1038/EJHG.2016.142

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/as4tlg3nw5ajbde2lna6efrb3q

30 July 2022

release_as4tlg3nw5ajbde2lna6efrb3q

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/as4tlg3nw5ajbde2lna6efrb3q

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https://api.fatcat.wiki/v0/release/as4tlg3nw5ajbde2lna6efrb3q

1 reference

30 July 2022

https://api.fatcat.wiki/v0/release/as4tlg3nw5ajbde2lna6efrb3q

PubMed publication ID

1 reference

30 July 2022