(Q34138179)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112076%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Periaxin mutations cause a broad spectrum of demyelinating neuropathies (English)

1 reference

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10 November 2019

8

1 reference

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10 November 2019

11

James R Lupski

1 reference

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10 November 2019

author name string

Hiroshi Takashima

1

1 reference

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10 November 2019

Cornelius F Boerkoel

2

1 reference

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10 November 2019

Peter De Jonghe

3

1 reference

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10 November 2019

Chantal Ceuterick

4

1 reference

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10 November 2019

Jean-Jacques Martin

5

1 reference

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10 November 2019

Thomas Voit

6

1 reference

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10 November 2019

J-Michael Schröder

7

1 reference

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10 November 2019

Peter J Brophy

9

1 reference

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10 November 2019

Vincent Timmerman

10

1 reference

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10 November 2019

publication date

1 June 2002

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10 November 2019

1 reference

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10 November 2019

volume

51

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10 November 2019

issue

6

1 reference

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10 November 2019

page(s)

709-715

1 reference

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The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy

10 November 2019

cites work

1 reference

Periaxin mutations cause recessive Dejerine-Sottas neuropathy

21 January 2018

1 reference

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

21 January 2018

1 reference

A tripartite nuclear localization signal in the PDZ-domain protein L-periaxin

21 January 2018

1 reference

Rho, Rac and Cdc42 GTPases regulate the organization of the actin cytoskeleton

21 January 2018

1 reference

Two PDZ domain proteins encoded by the murine periaxin gene are the result of alternative intron retention and are differentially targeted in Schwann cells

21 January 2018

1 reference

Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy

21 January 2018

1 reference

Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice

21 January 2018

1 reference

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

21 January 2018

1 reference

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

mRNA quality control: Marking the message for life or death.

21 January 2018

1 reference

Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Myelin galactolipids: mediators of axon-glial interactions?

21 January 2018

1 reference

Neurofascin is a glial receptor for the paranodin/Caspr-contactin axonal complex at the axoglial junction

21 January 2018

1 reference

Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13

21 January 2018

1 reference

The challenge of CMTX and connexin 32 mutations

21 January 2018

1 reference