(Q30179418)

9 June 2017

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis (English)

1 reference

Contactin associated protein 1

9 June 2017

1 reference

myelination in peripheral nervous system

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Ludger Schöls

14

0 references

Rebecca Schüle

0 references

Ingeborg Krägeloh-Mann

10

0 references

Stephan Züchner

12

0 references

author name string

Holger Hengel

1

1 reference

9 June 2017

Alex Magee

2

1 reference

9 June 2017

Muhammad Mahanjah

3

1 reference

9 June 2017

Jean-Michel Vallat

4

1 reference

9 June 2017

Robert Ouvrier

5

1 reference

9 June 2017

Mohammad Abu-Rashid

6

1 reference

9 June 2017

Jamal Mahamid

7

1 reference

9 June 2017

Martin Schulze

9

1 reference

9 June 2017

Peter Bauer

11

1 reference

9 June 2017

Rajech Sharkia

13

1 reference

9 June 2017

22 March 2017

1 reference

9 June 2017

1 reference

9 June 2017

3

1 reference

9 June 2017

e144

1 reference

9 June 2017

2

1 reference

Caspr Controls the Temporal Specification of Neural Progenitor Cells through Notch Signaling in the Developing Mouse Cerebral Cortex.

9 June 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363873

Innovative genomic collaboration using the GENESIS (GEM.app) platform

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363873

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363873

Hypomyelinating leukodystrophies: translational research progress and prospects

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363873

MutationTaster2: mutation prediction for the deep-sequencing age.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363873

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363873

Organization and maintenance of molecular domains in myelinated axons

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363873

A method and server for predicting damaging missense mutations

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363873

Fast and accurate long-read alignment with Burrows-Wheeler transform

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363873

A novel Caspr mutation causes the shambling mouse phenotype by disrupting axoglial interactions of myelinated nerves

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363873

An update on nerve biopsy

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363873

Arthrogryposis: a review and update

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363873

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363873

Neurofascins are required to establish axonal domains for saltatory conduction

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363873

Contactin orchestrates assembly of the septate-like junctions at the paranode in myelinated peripheral nerve.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363873

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363873

ON THE FINE STRUCTURE OF SPECIAL STRUCTURES IN MYELINATED NERVE FIBERS OF THE RAT CEREBELLUM

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28374019

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/NXG.0000000000000144

1 reference

9 June 2017

0 references

1 reference